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Kein Kauf auf gut Glück und keine Blackbox. Hier steht jedes Gen, jede Erkrankung und jedes Merkmal, das wir untersuchen, mit Namen, und was jede Art von Datei Ihnen zeigen kann. Zahlen und Namen entstehen aus denselben Registern, mit denen die Pipeline arbeitet, deshalb kann diese Seite nicht unbemerkt von Ihrem Bericht abweichen.

Was jeder Dateityp zeigen kann

Versionsstand: 14. Oktober 2026.

Was jeder Dateityp zeigen kann, Modul für Modul
Was Sie erhalten Chip-Test Genom Genom + Deep Read
Clinical findings Bis zu 2 Bis zu 39 Bis zu 39
Carrier status Nicht verfügbar Bis zu 60 Bis zu 60
Wider ClinVar screen (known variants) Nicht verfügbar Bis zu 1.415, siehe Anmerkung 1 Bis zu 1.415, siehe Anmerkung 1
Pharmacogenomics Bis zu 7, siehe Anmerkung 2 Bis zu 9, siehe Anmerkung 3 Bis zu 9, siehe Anmerkung 3
Traits Bis zu 24, siehe Anmerkung 4 Bis zu 28 Bis zu 28
Frontier Bis zu 56, siehe Anmerkung 4 Bis zu 60 Bis zu 60
The Fringe Bis zu 29, siehe Anmerkung 4 Bis zu 32 Bis zu 32
Archaic ancestry Bis zu 4, siehe Anmerkung 5 Bis zu 9, siehe Anmerkung 6 Bis zu 9, siehe Anmerkung 6
Polygenic scores Bis zu 17 Bis zu 17 Bis zu 17
Ancestry: maternal (mtDNA) Bis zu 30, siehe Anmerkung 7 Bis zu 30, siehe Anmerkung 7 Bis zu 30, siehe Anmerkung 7
Ancestry: paternal (Y-DNA) Bis zu 14, siehe Anmerkung 8 Bis zu 14 Bis zu 14
Ancestry composition Bis zu 31 Bis zu 31 Bis zu 31
APOE risk allele (e4) Enthalten Enthalten Enthalten
Lp(a) level Enthalten Enthalten Enthalten
Hemochromatosis (HFE) variants Enthalten, siehe Anmerkung 9 Enthalten Enthalten
ABO blood type Nicht verfügbar Enthalten Enthalten
APOL1 risk variants Enthalten, siehe Anmerkung 10 Enthalten Enthalten
Celiac HLA types (DQ2.5 / DQ8) Enthalten, siehe Anmerkung 11 Enthalten Enthalten
Deep Read: pharmacogenes from your reads, with CYP2D6 copy number, per-gene callability and HLA typing Nicht verfügbar Nicht verfügbar Bis zu 29
Recurrent deletion calls (from read depth) Nicht verfügbar Nicht verfügbar Bis zu 2

Anmerkung 1:  Die krankheitsverursachenden Varianten, die ClinVar kennt (insgesamt 106.278), in 1.363 rezessiven und X-chromosomalen Genen und in 52 dominanten Genen, die als handlungsrelevant eingestuft sind; gelesen werden die gelisteten Varianten, nicht das ganze Gen.
Anmerkung 2:  Je nach Array: die Gene, die ein Chip vollständig lesen kann, und davon nur die, deren definierende SNPs Ihr Chip typisiert hat und auflösen konnte. Für DPYD braucht es eine sequenzierte Datei.
Anmerkung 3:  9 aus einer einfachen VCF, 25 aus einer gVCF, die auch die untersuchten Positionen verzeichnet. Für die CYP2D6-Kopienzahl braucht es Deep Read.
Anmerkung 4:  Je nach Array: so viel, wie ein Chip überhaupt lesen kann, denn ein Chip liest nur Marker aus einem einzelnen Buchstaben, die er dem richtigen Strang zuordnen kann. Welche davon Ihr Chip liest, hängt vom Array ab.
Anmerkung 5:  Je nach Array: so viel, wie ein Chip überhaupt lesen kann. Die übrigen Marker stehen auf keinem Array für Privatkunden oder lassen sich daraus nicht auflösen, und welche der gezählten Marker Ihr Chip enthält, hängt vom Array ab.
Anmerkung 6:  Alle aus einer gVCF, deren Referenzeinträge belegen, dass jede Position gelesen wurde. Eine einfache VCF listet nur die Stellen, an denen Sie von der Referenz abweichen, und liest deshalb nur die Marker, die Sie tragen.
Anmerkung 7:  Ihre mütterliche Linie wird im gesamten veröffentlichten mitochondrialen Stammbaum verortet, daher kann der Zweig, den wir nennen, feiner sein als diese Liste. Die Zahl nennt die Kladen, zu denen wir Texte geschrieben haben; eine Linie außerhalb davon wird trotzdem verortet, und der Bericht sagt das.
Anmerkung 8:  Für die väterliche Linie brauchen wir das Referenzgenom Ihres Exports, und Dateien von 23andMe und AncestryDNA geben es an. Exporte von MyHeritage und FamilyTreeDNA nennen es nicht, deshalb melden wir die väterliche Linie bei diesen Dateien als nicht lesbar, statt zu raten.
Anmerkung 9:  Je nach Array: Ein Chip liest C282Y, sofern er die Position enthält, und H63D nur, wenn er genau eine Kopie zeigt. Eine sequenzierte Datei liest beide.
Anmerkung 10:  Je nach Array: Ein Chip liest G1, sofern er die Position enthält. G2 ist eine kleine Deletion, die sich aus einer sequenzierten Datei lesen lässt.
Anmerkung 11:  Je nach Array: Beide Markerpositionen müssen auf Ihrem Chip liegen und von ihm lesbar sein. Ist das nicht der Fall, gilt das Ergebnis als nicht bestimmt und nicht als negativ.

Eine Zahl gibt an, wie viele Einträge wir untersuchen; bedeutet enthalten; ein Strich () bedeutet, dass dieser Dateityp es nicht liefern kann. Die Zahlen nennen das Maximum, das eine Datei dieses Typs liefern kann, und sind kein Versprechen für jede Datei.

Worauf diese Zahlen beruhen: Das Panel umfasst 1.054 Regionen von GRCh38, und ClinVar 2026-07 verzeichnet darin 483.295 klassifizierte Varianten, 74.760 davon pathogen oder wahrscheinlich pathogen mit dokumentierten Bewertungskriterien. Jede Variante Ihrer Datei, die in diese Regionen fällt, wird mit dieser Liste annotiert, bevor ein Modul entscheidet, was in den Bericht kommt. Diese Regionen sind der Kern dessen, was untersucht wird, und die Zahlen der Module zeigen, was wir daraus für den Bericht ausgewählt haben. Bei einer sequenzierten Datei fügt das erweiterte ClinVar-Screening 106.278 exakte ClinVar-Positionen hinzu, und jeder polygene Score bringt eigene Marker mit.

Medikamente im Deep-Read-Panel

Das pharmakogenetische Panel von Deep Read mit seinen 29 Zielen gibt die CPIC-Empfehlungen für 79 Medikamente wieder. Es ist dieselbe Art pharmakogenetischer Auswertung, wie sie ein Test wie GeneSight verkauft, nur aus den alignierten Reads (BAM/CRAM), die Sie schon besitzen. Hier steht jedes abgedeckte Medikament, mit dem Gen oder den Genen, die dafür maßgeblich sind. Medikamenten- und Gennamen erscheinen auf Englisch, so wie Sie sie im Bericht lesen.

Die genannten Dienste beschreiben wir anhand ihrer öffentlichen Produktseiten; Funktionen können sich ändern, und wir sprechen nicht im Namen dieser Anbieter.

  • aminosalicylic acid G6PD
  • amitriptyline CYP2C19
  • aspirin G6PD
  • atazanavir UGT1A1
  • atorvastatin SLCO1B1
  • azathioprine NUDT15TPMT
  • capecitabine DPYD
  • chloramphenicol G6PD
  • chloroquine G6PD
  • ciprofloxacin G6PD
  • citalopram CYP2C19
  • clomipramine CYP2C19
  • clopidogrel CYP2C19
  • Codeine / tramadol CYP2D6
  • dapsone G6PD
  • desflurane CACNA1S
  • dexlansoprazole CYP2C19
  • dimercaprol G6PD
  • doxepin CYP2C19
  • doxorubicin G6PD
  • efavirenz CYP2B6
  • enflurane CACNA1S
  • escitalopram CYP2C19
  • fluorouracil DPYD
  • Fluvastatin CYP2C9
  • fluvastatin SLCO1B1
  • Fluvoxamine CYP2D6
  • furazolidone G6PD
  • glyburide G6PD
  • halothane CACNA1S
  • hydralazine NAT2
  • hydroxychloroquine G6PD
  • imipramine CYP2C19
  • isoflurane CACNA1S
  • lansoprazole CYP2C19
  • lovastatin SLCO1B1
  • mafenide G6PD
  • mercaptopurine NUDT15TPMT
  • methoxyflurane CACNA1S
  • methylene blue G6PD
  • nalidixic acid G6PD
  • nitrofurantoin G6PD
  • norfloxacin G6PD
  • NSAIDs (e.g. celecoxib, ibuprofen) CYP2C9
  • ofloxacin G6PD
  • omeprazole CYP2C19
  • pantoprazole CYP2C19
  • Paroxetine CYP2D6
  • pegloticase G6PD
  • phenazopyridine G6PD
  • pitavastatin SLCO1B1
  • pravastatin SLCO1B1
  • primaquine G6PD
  • quinine G6PD
  • rasburicase G6PD
  • rosuvastatin ABCG2SLCO1B1
  • sertraline CYP2B6CYP2C19
  • sevoflurane CACNA1S
  • simvastatin SLCO1B1
  • succinylcholine CACNA1S
  • sulfadiazine G6PD
  • sulfadimidine G6PD
  • sulfamethoxazole / trimethoprim G6PD
  • sulfanilamide G6PD
  • sulfasalazine G6PD
  • sulfisoxazole G6PD
  • tacrolimus CYP3A5
  • tafenoquine G6PD
  • Tamoxifen CYP2D6
  • thioguanine NUDT15TPMT
  • tolbutamide G6PD
  • toluidine blue G6PD
  • trimipramine CYP2C19
  • Venlafaxine CYP2D6
  • vitamin c G6PD
  • vitamin k G6PD
  • voriconazole CYP2C19
  • Vortioxetine CYP2D6
  • Warfarin CYP2C9
Ebenfalls bei CPIC gelistet (138)

Für diese Medikamente nennt CPIC Gene aus diesem Panel, aber ohne Dosierungsempfehlung für das jeweilige Gen. Jede Zeile gibt wieder, was CPIC tatsächlich veröffentlicht; auch diese Zeilen sind auf Englisch. Ein Medikament kann in beiden Listen stehen, wenn CPIC über ein Gen eine Empfehlung dazu gibt und über ein anderes keine.

  • acebutolol CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • aceclofenac CYP2C9

    CYP2C9: CPIC reviewed this pair (level C) and publishes no CYP2C9-based dosing recommendation.

  • acenocoumarol CYP2C9CYP4F2

    CYP2C9: CPIC rates the evidence level B but publishes no dosing recommendation for the pair in the release we use.

    CYP4F2: CPIC rates the evidence level B but publishes no dosing recommendation for the pair in the release we use.

  • amifampridine NAT2

    NAT2: CPIC reviewed this pair (level B/C) and publishes no NAT2-based dosing recommendation.

  • amifampridine phosphate NAT2

    NAT2: CPIC reviewed this pair (level B/C) and publishes no NAT2-based dosing recommendation.

  • amoxapine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • amphetamine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • aripiprazole CYP2D6

    CYP2D6: CPIC rates the evidence level B but publishes no dosing recommendation for the pair in the release we use.

  • aripiprazole lauroxil CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • aspirin CYP2C9

    CYP2C9: no recommendation for this pair; CPIC's dosing guidance for this drug is through G6PD.

  • atorvastatin CYP3A4CYP3A5

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

    CYP3A5: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

  • avatrombopag CYP2C9

    CYP2C9: CPIC reviewed this pair (level B/C) and publishes no CYP2C9-based dosing recommendation.

  • belinostat UGT1A1

    UGT1A1: CPIC rates the evidence level B but publishes no dosing recommendation for the pair in the release we use.

  • betaxolol CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • bisoprolol CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • brexpiprazole CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • brivaracetam CYP2C19

    CYP2C19: CPIC rates the evidence level B but publishes no dosing recommendation for the pair in the release we use.

  • bupropion CYP2B6

    CYP2B6: CPIC reviewed this pair (level B/C) and publishes no CYP2B6-based dosing recommendation.

  • carboplatin MTHFR

    MTHFR: CPIC reviewed this pair (level C) and publishes no MTHFR-based dosing recommendation.

  • carisoprodol CYP2C19

    CYP2C19: CPIC reviewed this pair (level B/C) and publishes no CYP2C19-based dosing recommendation.

  • carvedilol CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • cevimeline CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • chlorpropamide G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • citalopram CYP2D6GRIK4

    CYP2D6: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2C19.

    GRIK4: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2C19.

  • clobazam CYP2C19

    CYP2C19: CPIC reviewed this pair (level B/C) and publishes no CYP2C19-based dosing recommendation.

  • clozapine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • cyclosporine CYP3A5

    CYP3A5: CPIC reviewed this pair (level C) and publishes no CYP3A5-based dosing recommendation.

  • dabrafenib G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • darifenacin CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • deutetrabenazine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • dextromethorphan CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • diazepam CYP2C19

    CYP2C19: CPIC reviewed this pair (level B/C) and publishes no CYP2C19-based dosing recommendation.

  • diclofenac CYP2C8CYP2C9

    CYP2C8: CPIC reviewed this pair (level C) and publishes no CYP2C8-based dosing recommendation.

    CYP2C9: CPIC reviewed this pair (level C) and publishes no CYP2C9-based dosing recommendation.

  • digoxin ABCB1

    ABCB1: CPIC reviewed this pair (level C) and publishes no ABCB1-based dosing recommendation.

  • dolasetron CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • dolutegravir UGT1A1

    UGT1A1: CPIC reviewed this pair (level B/C) and publishes no UGT1A1-based dosing recommendation.

  • donepezil CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • dronabinol CYP2C9

    CYP2C9: CPIC reviewed this pair (level B/C) and publishes no CYP2C9-based dosing recommendation.

  • duloxetine CYP2C19CYP2D6

    CYP2C19: CPIC reviewed this pair (level C) and publishes no CYP2C19-based dosing recommendation.

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • elagolix SLCO1B1

    SLCO1B1: CPIC reviewed this pair (level B/C) and publishes no SLCO1B1-based dosing recommendation.

  • eliglustat CYP2D6

    CYP2D6: CPIC rates the evidence level A/B but publishes no dosing recommendation for the pair in the release we use. The FDA drug label lists CYP2D6 testing as required.

  • eltrombopag F5

    F5: CPIC reviewed this pair (level C) and publishes no F5-based dosing recommendation.

  • erdafitinib CYP2C9

    CYP2C9: CPIC reviewed this pair (level B/C) and publishes no CYP2C9-based dosing recommendation.

  • escitalopram CYP2D6GRIK4

    CYP2D6: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2C19.

    GRIK4: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2C19.

  • esomeprazole CYP2C19

    CYP2C19: CPIC reviewed this pair (level C) and publishes no CYP2C19-based dosing recommendation.

  • fentanyl ABCB1

    ABCB1: CPIC reviewed this pair (level C) and publishes no ABCB1-based dosing recommendation.

  • fesoterodine CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • flecainide CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • flibanserin CYP2C19CYP2C9CYP2D6

    CYP2C19: CPIC reviewed this pair (level C) and publishes no CYP2C19-based dosing recommendation.

    CYP2C9: CPIC reviewed this pair (level C) and publishes no CYP2C9-based dosing recommendation.

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • fluoxetine CYP2C19CYP2D6GRIK4

    CYP2C19: CPIC reviewed this pair (level C) and publishes no CYP2C19-based dosing recommendation.

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

    GRIK4: CPIC reviewed this pair (level C) and publishes no GRIK4-based dosing recommendation.

  • fluvastatin CYP3A4CYP3A5

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2C9 and SLCO1B1.

    CYP3A5: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2C9 and SLCO1B1.

  • fluvoxamine CYP2C19

    CYP2C19: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2D6.

  • galantamine CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • gefitinib CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • gliclazide G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • glimepiride G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • glipizide G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • haloperidol CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • hormonal contraceptives for systemic use F5

    F5: CPIC reviewed this pair (level C) and publishes no F5-based dosing recommendation.

  • ibuprofen CYP2C8

    CYP2C8: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2C9.

  • iloperidone CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • indomethacin CYP2C9

    CYP2C9: CPIC reviewed this pair (level C) and publishes no CYP2C9-based dosing recommendation.

  • irinotecan UGT1A1

    UGT1A1: CPIC rates the evidence level A but publishes no dosing recommendation for the pair in the release we use. The FDA drug label lists UGT1A1 testing as recommended.

  • isoniazid NAT2

    NAT2: CPIC reviewed this pair (level C) and publishes no NAT2-based dosing recommendation.

  • l-methylfolate MTHFR

    MTHFR: CPIC reviewed this pair (level B/C) and publishes no MTHFR-based dosing recommendation.

  • labetalol CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • lesinurad CYP2C9

    CYP2C9: CPIC reviewed this pair (level B/C) and publishes no CYP2C9-based dosing recommendation.

  • lidocaine G6PD

    G6PD: CPIC reviewed this pair (level B/C) and publishes no G6PD-based dosing recommendation.

  • lofexidine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • lovastatin CYP3A4CYP3A5

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

    CYP3A5: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

  • lumiracoxib CYP2C9

    CYP2C9: CPIC reviewed this pair (level C) and publishes no CYP2C9-based dosing recommendation.

  • meclizine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • mepacrine G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • mesalazine G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • methadone CYP2B6CYP2D6

    CYP2B6: CPIC reviewed this pair (level C) and publishes no CYP2B6-based dosing recommendation.

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • methotrexate ABCB1MTHFRSLCO1B1

    ABCB1: CPIC reviewed this pair (level C) and publishes no ABCB1-based dosing recommendation.

    MTHFR: CPIC reviewed this pair (level C) and publishes no MTHFR-based dosing recommendation.

    SLCO1B1: CPIC reviewed this pair (level C) and publishes no SLCO1B1-based dosing recommendation.

  • methylphenidate CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • metoclopramide CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • midazolam CYP3A5

    CYP3A5: CPIC reviewed this pair (level C/D) and publishes no CYP3A5-based dosing recommendation.

  • mirabegron CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • mirtazapine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • mivacurium BCHE

    BCHE: CPIC reviewed this pair (level B/C) and publishes no BCHE-based dosing recommendation.

  • modafinil CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • moxifloxacin G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • nabumetone CYP2C9

    CYP2C9: CPIC reviewed this pair (level C) and publishes no CYP2C9-based dosing recommendation.

  • naproxen CYP2C9

    CYP2C9: CPIC reviewed this pair (level C) and publishes no CYP2C9-based dosing recommendation.

  • nebivolol CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • nevirapine ABCB1CYP2B6

    ABCB1: CPIC reviewed this pair (level C) and publishes no ABCB1-based dosing recommendation.

    CYP2B6: CPIC reviewed this pair (level B/C) and publishes no CYP2B6-based dosing recommendation.

  • nicorandil G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • nilotinib UGT1A1

    UGT1A1: CPIC reviewed this pair (level B/C) and publishes no UGT1A1-based dosing recommendation.

  • nitrofural G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • oliceridine CYP2D6

    CYP2D6: CPIC rates the evidence level A/B but publishes no dosing recommendation for the pair in the release we use.

  • ondansetron ABCB1

    ABCB1: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2D6.

  • oxycodone CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • palonosetron CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • paroxetine CYP2C19GRIK4

    CYP2C19: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2D6.

    GRIK4: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2D6.

  • pazopanib UGT1A1

    UGT1A1: CPIC reviewed this pair (level B/C) and publishes no UGT1A1-based dosing recommendation.

  • perphenazine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • phenprocoumon CYP4F2

    CYP4F2: CPIC rates the evidence level B but publishes no dosing recommendation for the pair in the release we use.

  • pimozide CYP2D6

    CYP2D6: CPIC rates the evidence level A/B but publishes no dosing recommendation for the pair in the release we use. The FDA drug label lists CYP2D6 testing as required.

  • pitavastatin CYP3A4CYP3A5

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

    CYP3A5: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

  • pitolisant CYP2D6

    CYP2D6: CPIC rates the evidence level A but publishes no dosing recommendation for the pair in the release we use.

  • pravastatin CYP3A4CYP3A5

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

    CYP3A5: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

  • probenecid G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • procainamide NAT2

    NAT2: CPIC reviewed this pair (level B/C) and publishes no NAT2-based dosing recommendation.

  • propafenone CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • propranolol CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • protriptyline CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • quinidine CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • quinine CYP2D6

    CYP2D6: no recommendation for this pair; CPIC's dosing guidance for this drug is through G6PD.

  • rabeprazole CYP2C19

    CYP2C19: CPIC reviewed this pair (level C) and publishes no CYP2C19-based dosing recommendation.

  • raltegravir UGT1A1

    UGT1A1: CPIC reviewed this pair (level B/C) and publishes no UGT1A1-based dosing recommendation.

  • risperidone CYP2D6

    CYP2D6: CPIC rates the evidence level B but publishes no dosing recommendation for the pair in the release we use.

  • rosiglitazone CYP2C8

    CYP2C8: CPIC reviewed this pair (level C) and publishes no CYP2C8-based dosing recommendation.

  • rosuvastatin CYP3A4CYP3A5

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through ABCG2 and SLCO1B1.

    CYP3A5: no recommendation for this pair; CPIC's dosing guidance for this drug is through ABCG2 and SLCO1B1.

  • sertraline CYP2D6GRIK4

    CYP2D6: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2B6 and CYP2C19.

    GRIK4: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2B6 and CYP2C19.

  • simvastatin ABCB1CYP3A4CYP3A5

    ABCB1: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

    CYP3A5: no recommendation for this pair; CPIC's dosing guidance for this drug is through SLCO1B1.

  • siponimod CYP2C9

    CYP2C9: CPIC rates the evidence level A but publishes no dosing recommendation for the pair in the release we use. The FDA drug label lists CYP2C9 testing as required.

  • sirolimus CYP3A5

    CYP3A5: CPIC reviewed this pair (level C) and publishes no CYP3A5-based dosing recommendation.

  • sodium nitrite G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • succinylcholine BCHE

    BCHE: no recommendation for this pair; CPIC's dosing guidance for this drug is through CACNA1S.

  • sulfacetamide G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • sulfamethoxazole / trimethoprim NAT2

    NAT2: no recommendation for this pair; CPIC's dosing guidance for this drug is through G6PD.

  • sulfasalazine NAT2

    NAT2: no recommendation for this pair; CPIC's dosing guidance for this drug is through G6PD.

  • tacrolimus CYP3A4

    CYP3A4: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP3A5.

  • tamsulosin CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • tegafur DPYD

    DPYD: CPIC reviewed this pair (level C) and publishes no DPYD-based dosing recommendation.

  • terbinafine CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • tetrabenazine CYP2D6

    CYP2D6: CPIC rates the evidence level A/B but publishes no dosing recommendation for the pair in the release we use. The FDA drug label lists CYP2D6 testing as required.

  • thioridazine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • timolol CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • tolazamide G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • tolterodine CYP2D6

    CYP2D6: CPIC reviewed this pair (level C) and publishes no CYP2D6-based dosing recommendation.

  • trametinib G6PD

    G6PD: CPIC reviewed this pair (level C) and publishes no G6PD-based dosing recommendation.

  • valbenazine CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

  • venlafaxine CYP2C19GRIK4

    CYP2C19: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2D6.

    GRIK4: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2D6.

  • vortioxetine CYP2C19

    CYP2C19: no recommendation for this pair; CPIC's dosing guidance for this drug is through CYP2D6.

  • zuclopenthixol CYP2D6

    CYP2D6: CPIC reviewed this pair (level B/C) and publishes no CYP2D6-based dosing recommendation.

Zu vielen davon gibt es eine eigene, allgemein verständliche Seite, aus beiden Richtungen: Gene und Ihre Medikamente, Erkrankungen im Trägerscreening oder Medikamente und Ihre DNA.

Abdeckung heißt, dass das Panel das Gen liest, das für dieses Medikament maßgeblich ist. Das ist eine Entscheidungshilfe für Sie und für die Ärztin oder den Arzt, die oder der es verordnet, nie eine Anweisung, ein Medikament anzusetzen, abzusetzen oder zu ändern. Von CPIC übernommen, nie eine Diagnose.

Bericht + Deep Read im Paket bestellen · 69 $ (Sie sparen 19 $) Deep Read läuft nach Ihrem Bericht auf einer BAM- oder CRAM-Datei; das Paket deckt beides ab.

Jedes Gen, jede Erkrankung, jedes Merkmal mit Namen

Nach Modulen gruppiert, die klinischen zuerst. Alles hier ist im Genom-Bericht für 39 $ enthalten, außer dem Deep-Read-Panel, einer Erweiterung für Dateien mit alignierten Reads (BAM/CRAM). Eine Datei aus einem Chip-Test deckt eine kleinere Auswahl ab (siehe die Tabelle oben). Wenn nichts gefunden wird, heißt das nicht, dass alles unauffällig ist: Das sind kuratierte, geprüfte Panels und eine Liste von Varianten, die ClinVar bereits kennt, kein umfassendes genomweites Screening. Gene, Erkrankungen und Merkmale tragen hier dieselben englischen Namen wie im Bericht.

Clinical findings

39 items examined

Restated from ClinVar · ACMG SF v3.3

Pathogenic / likely-pathogenic variants in these genes, framed as personal risk. Needs a sequenced genome (WGS); a chip reads only a couple of these.

  • X-linked adrenoleukodystrophy ABCD1
  • Arrhythmogenic right ventricular cardiomyopathy PKP2, DSP, DSC2, DSG2, TMEM43
  • Biotinidase deficiency BTD
  • Cerebrotendinous xanthomatosis (CTX) CYP27A1
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) RYR2, CASQ2, TRDN
  • Dilated cardiomyopathy (inherited) LMNA, FLNC, TTN, BAG3, DES, RBM20, PLN
  • Fabry disease GLA
  • Factor V Leiden thrombophilia F5
  • Familial hypercholesterolemia LDLR, APOB, PCSK9
  • Familial adenomatous polyposis APC
  • Hereditary Breast and Ovarian Cancer BRCA1, BRCA2
  • Hereditary paraganglioma-pheochromocytoma SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127
  • Heritable thoracic aortic disease TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11
  • Hereditary haemorrhagic telangiectasia (HHT) ACVRL1, ENG
  • Hypertrophic cardiomyopathy MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, MYL2, ACTC1, TNNC1, PRKAG2
  • Juvenile polyposis syndrome BMPR1A, SMAD4
  • Li-Fraumeni syndrome TP53
  • Long QT syndrome KCNQ1, KCNH2, SCN5A, CALM1, CALM2, CALM3
  • Lynch syndrome MLH1, MSH2, MSH6, PMS2, EPCAM
  • Malignant hyperthermia susceptibility RYR1, CACNA1S
  • MUTYH-associated polyposis MUTYH
  • Marfan syndrome FBN1
  • Multiple endocrine neoplasia type 1 MEN1
  • Multiple endocrine neoplasia type 2 RET
  • Maturity-onset diabetes of the young (HNF1A-MODY) HNF1A
  • NF2-related schwannomatosis (neurofibromatosis type 2) NF2
  • Ornithine transcarbamylase (OTC) deficiency OTC
  • Peutz-Jeghers syndrome STK11
  • Pompe disease GAA
  • Prothrombin G20210A thrombophilia F2
  • PTEN hamartoma tumour syndrome PTEN
  • Hereditary retinoblastoma RB1
  • RPE65-related retinal dystrophy RPE65
  • Hereditary transthyretin amyloidosis TTR
  • Tuberous sclerosis complex TSC1, TSC2
  • Vascular Ehlers-Danlos syndrome COL3A1
  • Von Hippel-Lindau syndrome VHL
  • Wilson disease ATP7B
  • WT1-related Wilms tumour predisposition WT1

Carrier status

60 items examined

Restated from ACMG Tier 3 · ACOG carrier panel

A recessive-lens read for family planning. Needs WGS.

  • MCAD deficiency carrier ACADM
  • Aspartylglucosaminuria (AGU) carrier AGA
  • APECED (autoimmune polyendocrinopathy) carrier AIRE
  • Canavan disease carrier ASPA
  • Citrullinemia type I carrier ASS1
  • Wilson disease carrier ATP7B
  • Maple syrup urine disease carrier BCKDHB
  • GRACILE syndrome carrier BCS1L
  • Bloom syndrome carrier BLM
  • Biotinidase deficiency carrier BTD
  • Catecholaminergic polymorphic ventricular tachycardia type 2 (CASQ2) carrier CASQ2
  • Cystic fibrosis carrier CFTR
  • CLN5 disease carrier CLN5
  • Northern epilepsy (CLN8) carrier CLN8
  • Usher syndrome type 3A carrier CLRN1
  • Cystinosis carrier CTNS
  • Imerslund-Gräsbeck syndrome (B12 malabsorption) carrier CUBN
  • Cerebrotendinous xanthomatosis (CTX) carrier CYP27A1
  • Smith-Lemli-Opitz syndrome carrier DHCR7
  • Familial dysautonomia carrier ELP1
  • Tyrosinemia type I carrier FAH
  • Fanconi anemia group C carrier FANCC
  • Glycogen storage disease type Ia carrier G6PC1
  • G6PD deficiency G6PD
  • Pompe disease carrier GAA
  • Krabbe disease carrier GALC
  • Galactosemia carrier GALT
  • Gaucher disease carrier GBA1
  • Non-syndromic hearing loss carrier (DFNB1) GJB2
  • Lethal congenital contracture syndrome 1 (LCCS1) carrier GLE1
  • Sickle cell & β-thalassemia carrier HBB
  • Tay-Sachs disease carrier HEXA
  • Hydrolethalus syndrome (HLS) carrier HYLS1
  • Mucopolysaccharidosis type I carrier IDUA
  • Cornea plana 2 (CNA2) carrier KERA
  • Congenital lactase deficiency carrier LCT
  • Mucolipidosis IV carrier MCOLN1
  • Meckel syndrome, Finnish type (MKS1) carrier MKS1
  • MUTYH-associated polyposis carrier MUTYH
  • Congenital nephrosis, Finnish type (CNF) carrier NPHS1
  • Gyrate atrophy of the choroid and retina carrier OAT
  • Phenylketonuria (PKU) carrier PAH
  • Muscle-eye-brain disease (MEB) carrier POMGNT1
  • Infantile neuronal ceroid lipofuscinosis (CLN1) carrier PPT1
  • RAPADILINO syndrome carrier RECQL4
  • Cartilage-hair hypoplasia (CHH) carrier RMRP
  • RPE65-related retinal dystrophy carrier RPE65
  • Salla disease carrier SLC17A5
  • Diastrophic dysplasia (DTD) carrier SLC26A2
  • Congenital chloride diarrhea (CCD) carrier SLC26A3
  • Pendred syndrome / hearing-loss carrier SLC26A4
  • Lysinuric protein intolerance (LPI) carrier SLC7A7
  • Niemann-Pick disease type A/B carrier SMPD1
  • Triadin knockout syndrome (TRDN) carrier TRDN
  • Mulibrey nanism carrier TRIM37
  • Infantile-onset spinocerebellar ataxia (IOSCA) carrier TWNK
  • Usher syndrome type 2A carrier USH2A
  • Cohen syndrome carrier VPS13B
  • XXYLT1 retinal dystrophy carrier XXYLT1
  • PEHO syndrome carrier ZNHIT3

Wider ClinVar screen

1,415 items examined

Restated from ClinVar · ClinGen · Orphanet

ClinVar's known disease-causing variants at 106,278 exact positions (ClinVar 2026-07-20): carrier status in 1,263 recessive and 100 X-linked genes beyond the curated carrier panel, and 52 dominant genes whose conditions score at least 7 of 12 on ClinGen's adult actionability scale, from two-star ClinVar entries only. ClinVar-listed variants only, not whole genes, and sequenced files only (VCF or gVCF): not a chip or a low-pass genome. Conditions are named in ClinGen's words. Finding nothing does not rule a condition out.

All 1,415 genes, by name
  • AARS2 mitochondrial disease
  • AASS hyperlysinemia
  • ABAT genetic developmental and epileptic encephalopathy
  • ABCA3 interstitial lung disease due to ABCA3 deficiency
  • ABCA4 ABCA4-related retinopathy
  • ABCB4 progressive familial intrahepatic cholestasis type 3
  • ABCC8 hyperinsulinemic hypoglycemia, familial, 1
  • ABCD4 methylmalonic acidemia with homocystinuria, type cblJ
  • ABCG5 sitosterolemia
  • ABCG8 sitosterolemia
  • ABHD12 PHARC syndrome
  • ABHD5 Dorfman-Chanarin disease
  • ACAD8 isobutyryl-CoA dehydrogenase deficiency
  • ACAD9 acyl-CoA dehydrogenase 9 deficiency
  • ACADS short chain acyl-CoA dehydrogenase deficiency
  • ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
  • ACADVL very long chain acyl-CoA dehydrogenase deficiency
  • ACAT1 beta-ketothiolase deficiency
  • ACBD5 acyl-CoA binding domain containing protein 5 deficiency
  • ACE renal tubular dysgenesis - ACE
  • ACOX2 congenital bile acid synthesis defect 6
  • ACSF3 combined malonic and methylmalonic acidemia
  • ACY1 aminoacylase 1 deficiency
  • ADA severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • ADA2 obsolete deficiency of adenosine deaminase 2
  • ADAM17 inflammatory skin and bowel disease, neonatal, 1
  • ADAM22 developmental and epileptic encephalopathy
  • ADAM9 ADAM9-related retinopathy
  • ADAMTS13 congenital thrombotic thrombocytopenic purpura
  • ADAMTS18 microcornea-myopic chorioretinal atrophy
  • ADAT3 intellectual disability-strabismus syndrome
  • ADD3 complex neurodevelopmental disorder with motor features
  • ADGRG1 bilateral frontoparietal polymicrogyria
  • ADGRV1 Usher syndrome type 2
  • ADK adenosine kinase deficiency
  • ADSL adenylosuccinate lyase deficiency
  • AFG2A syndromic complex neurodevelopmental disorder
  • AGBL5 inherited retinal dystrophy
  • AGK mitochondrial disease
  • AGL glycogen storage disease III
  • AGPAT2 lipodystrophy
  • AGPS alkylglycerone-phosphate synthase deficiency
  • AGRN congenital myasthenic syndrome 8
  • AGTPBP1 neurodegeneration, childhood-onset, with cerebellar atrophy
  • AGXT alanine glyoxylate aminotransferase deficiency
  • AHCY hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
  • AHI1 Joubert syndrome 3
  • AIMP1 hypomyelinating leukodystrophy 3
  • AIMP2 leukodystrophy, hypomyelinating, 17
  • AIPL1 AIPL1-related retinopathy
  • AK2 reticular dysgenesis
  • AKR1D1 congenital bile acid synthesis defect 2
  • ALAD porphyria due to ALA dehydratase deficiency
  • ALDH4A1 hyperprolinemia type 2
  • ALDH5A1 succinic semialdehyde dehydrogenase deficiency
  • ALDH7A1 pyridoxine-dependent epilepsy
  • ALDOB hereditary fructose intolerance
  • ALG1 ALG1-congenital disorder of glycosylation
  • ALG11 ALG11-congenital disorder of glycosylation
  • ALG12 ALG12-congenital disorder of glycosylation
  • ALG2 ALG2-congenital disorder of glycosylation
  • ALG3 ALG3-congenital disorder of glycosylation
  • ALG6 ALG6-congenital disorder of glycosylation 1C
  • ALMS1 Alstrom syndrome
  • ALS2 ALS2-related motor neuron disease
  • ALX1 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
  • ALX3 frontorhiny
  • ALX4 frontonasal dysplasia with alopecia and genital anomaly
  • AMACR alpha-methylacyl-CoA racemase deficiency
  • AMT glycine encephalopathy
  • ANK3 intellectual disability
  • ANKS6 nephronophthisis 16
  • ANO10 autosomal recessive spinocerebellar ataxia 10
  • ANO6 Scott syndrome
  • ANTXR1 GAPO syndrome
  • ANTXR2 hyaline fibromatosis syndrome
  • AP1B1 ichthyosiform erythroderma, corneal involvement, and hearing loss
  • AP1S1 MEDNIK syndrome
  • AP3B1 Hermansky-Pudlak syndrome 2
  • AP3B2 genetic developmental and epileptic encephalopathy
  • AP4B1 AP-4 deficiency syndrome
  • AP4E1 AP-4 deficiency syndrome
  • AP4M1 AP-4 deficiency syndrome
  • AP4S1 AP-4 deficiency syndrome
  • AP5Z1 hereditary spastic paraplegia
  • APC2 lissencephaly spectrum disorders
  • ARFGEF2 periventricular heterotopia with microcephaly, autosomal recessive
  • ARG1 arginase deficiency
  • ARHGDIA nephrotic syndrome, type 8
  • ARHGEF18 inherited retinal dystrophy
  • ARL13B Joubert syndrome
  • ARL2BP ciliopathy
  • ARL6 ciliopathy
  • ARL6IP1 hereditary spastic paraplegia
  • ARMC2 spermatogenic failure 38
  • ARMC9 Joubert syndrome 30
  • ARPC1B platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
  • ARSA metachromatic leukodystrophy
  • ARSB mucopolysaccharidosis type 6
  • ASAH1 ASAH1-related sphingolipidosis
  • ASL argininosuccinic aciduria
  • ASNS congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
  • ASPM autosomal recessive primary microcephaly
  • ATF6 ATF6-related retinopathy
  • ATG7 spinocerebellar ataxia, autosomal recessive 31
  • ATP13A2 Kufor-Rakeb syndrome
  • ATP5MK Leigh syndrome; mitochondrial disease
  • ATP5PO mitochondrial disease
  • ATP6V0A2 autosomal recessive cutis laxa type 2A
  • ATP6V1B1 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • ATP8A2 cerebellar ataxia, intellectual disability, and dysequilibrium
  • AUH 3-methylglutaconic aciduria type 1
  • AURKC spermatogenic failure 5
  • B3GALNT2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • B3GALT6 B3GALT6-congenital disorder of glycosylation
  • B3GLCT Peters plus syndrome
  • B4GALNT1 complex hereditary spastic paraplegia
  • B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1
  • B4GAT1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • B9D1 ciliopathy
  • B9D2 ciliopathy
  • BAG5 cardiomyopathy, dilated, 2F
  • BBS1 BBS1-related ciliopathy
  • BBS10 BBS10-related ciliopathy
  • BBS12 BBS12-related ciliopathy
  • BBS2 BBS2-related ciliopathy
  • BBS4 BBS4-related ciliopathy
  • BBS5 BBS5-related ciliopathy
  • BBS7 BBS7-related ciliopathy
  • BBS9 BBS9-related ciliopathy
  • BCAT2 hypervalinemia and hyperleucine-isoleucinemia
  • BCKDHA maple syrup urine disease type 1A
  • BCKDK branched-chain keto acid dehydrogenase kinase deficiency
  • BCL10 immunodeficiency 37
  • BIN1 centronuclear myopathy
  • BLNK agammaglobulinemia 4, autosomal recessive
  • BLOC1S5 Hermansky-Pudlak syndrome 11
  • BLOC1S6 Hermansky-Pudlak syndrome 9
  • BLTP1 Alkuraya-Kucinskas syndrome
  • BLVRA hyperbiliverdinemia
  • BOLA3 mitochondrial disease
  • BPNT2 chondrodysplasia with joint dislocations, gPAPP type
  • BRAT1 neonatal-onset encephalopathy with rigidity and seizures; neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • BSND Bartter disease type 4A
  • BUB1B mosaic variegated aneuploidy syndrome 1
  • BVES autosomal recessive limb-girdle muscular dystrophy
  • C1QA systemic lupus erythematosus related to C1QA
  • C1QB C1Q deficiency
  • C1QBP mitochondrial disease
  • C2CD3 orofaciodigital syndrome type 14
  • CA2 autosomal recessive osteopetrosis 3
  • CA5A hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
  • CA8 cerebellar ataxia
  • CABP2 nonsyndromic genetic hearing loss
  • CACNA1B complex neurodevelopmental disorder with motor features
  • CACNA2D2 complex neurodevelopmental disorder
  • CACNA2D4 CACNA2D4-related retinopathy
  • CAD developmental and epileptic encephalopathy, 50
  • CANT1 Desbuquois dysplasia 1
  • CARMIL2 severe combined immunodeficiency due to CARMIL2 deficiency
  • CARS2 mitochondrial disease
  • CASP2 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
  • CASP8 autoimmune lymphoproliferative syndrome type 2B
  • CAT acatalasia
  • CAVIN1 lipodystrophy
  • CBS classic homocystinuria
  • CC2D1A complex neurodevelopmental disorder
  • CC2D2A ciliopathy
  • CCDC39 primary ciliary dyskinesia 14
  • CCDC40 primary ciliary dyskinesia 15
  • CCN6 progressive pseudorheumatoid arthropathy of childhood
  • CCNO primary ciliary dyskinesia 29
  • CD19 immunodeficiency, common variable, 3
  • CD247 immunodeficiency 25
  • CD27 lymphoproliferative syndrome 2
  • CD3D immunodeficiency 19
  • CD3E immunodeficiency 18
  • CD3G combined immunodeficiency due to CD3gamma deficiency
  • CD40 hyper-IgM syndrome type 3
  • CD79A agammaglobulinemia 3, autosomal recessive
  • CD79B agammaglobulinemia 6, autosomal recessive
  • CDAN1 anemia, congenital dyserythropoietic, type 1a
  • CDC14A nonsyndromic genetic hearing loss; hearing impairment and infertile male syndrome
  • CDC45 Meier-Gorlin syndrome 7
  • CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome 3
  • CDH23 nonsyndromic genetic hearing loss
  • CDH3 EEM syndrome
  • CDHR1 retinitis pigmentosa 65
  • CDK5 lissencephaly with cerebellar hypoplasia
  • CDK5RAP2 autosomal recessive primary microcephaly
  • CDT1 Meier-Gorlin syndrome 4
  • CEP104 ciliopathy
  • CEP120 ciliopathy
  • CEP152 microcephaly with or without short stature
  • CEP164 CEP164-related ciliopathy
  • CEP250 cone-rod dystrophy and hearing loss 2
  • CEP290 CEP290-related ciliopathy
  • CEP41 ciliopathy
  • CEP57 mosaic variegated aneuploidy syndrome 2
  • CEP78 cone-rod dystrophy and hearing loss
  • CEP83 ciliopathy
  • CERKL CERKL-related retinopathy
  • CERS1 progressive myoclonus epilepsy
  • CFAP221 primary ciliary dyskinesia
  • CFAP298 primary ciliary dyskinesia 26
  • CFAP300 ciliary dyskinesia, primary, 38
  • CFAP410 ciliopathy
  • CFAP418 ciliopathy
  • CFAP43 spermatogenic failure 19
  • CFAP54 ciliary dyskinesia, primary, 54
  • CFAP74 ciliary dyskinesia, primary, 49, without situs inversus
  • CFL2 nemaline myopathy 7
  • CHAT congenital myasthenic syndrome 6
  • CHRNA1 myasthenic syndrome, congenital, 1B, fast-channel
  • CHRNG CHRNG-associated hypo-akinesia disorder of prenatal onset
  • CHST14 Ehlers-Danlos syndrome, musculocontractural type 1
  • CHST3 spondyloepiphyseal dysplasia with congenital joint dislocations
  • CHST6 macular corneal dystrophy
  • CHSY1 temtamy preaxial brachydactyly syndrome
  • CHUK Bartsocas-Papas syndrome 2
  • CIB2 nonsyndromic genetic hearing loss
  • CIDEC CIDEC-related familial partial lipodystrophy
  • CIITA MHC class II deficiency
  • CILK1 ciliopathy
  • CISD2 Wolfram syndrome
  • CLDN14 nonsyndromic genetic hearing loss
  • CLDN16 renal hypomagnesemia 3
  • CLDN9 hearing loss, autosomal recessive 116
  • CLN6 neuronal ceroid lipofuscinosis
  • CLPP Perrault syndrome 3
  • CLXN ciliary dyskinesia, primary, 53
  • CNGA1 CNGA1-related retinopathy
  • CNGA3 CNGA3-related retinopathy
  • CNGB1 CNGB1-related retinopathy
  • CNGB3 CNGB3-related retinopathy
  • CNNM4 Jalili syndrome
  • CNTN2 complex neurodevelopmental disorder
  • CNTNAP2 complex neurodevelopmental disorder
  • COA6 mitochondrial disease
  • COA7 mitochondrial disease
  • COA8 mitochondrial disease
  • COG1 COG1-congenital disorder of glycosylation
  • COG5 COG5-congenital disorder of glycosylation
  • COG6 COG6-congenital disorder of glycosylation
  • COG7 COG7-congenital disorder of glycosylation
  • COG8 COG8-congenital disorder of glycosylation
  • COL18A1 Knobloch syndrome 1
  • COL7A1 recessive dystrophic epidermolysis bullosa
  • COL9A1 Stickler syndrome, type 4
  • COL9A3 Stickler syndrome
  • COLGALT1 brain small vessel disease 3
  • COQ2 mitochondrial disease
  • COQ4 mitochondrial disease
  • COQ5 mitochondrial disease
  • COQ6 primary coenzyme Q10 deficiency 8
  • COQ7 distal hereditary motor neuropathy
  • COQ8B mitochondrial disease
  • COQ9 mitochondrial disease
  • CORO1A severe combined immunodeficiency due to CORO1A deficiency
  • COX10 mitochondrial disease; Leigh syndrome
  • COX15 mitochondrial disease
  • COX16 mitochondrial disease
  • COX20 mitochondrial disease
  • COX6A1 mitochondrial disease
  • COX6A2 mitochondrial disease
  • COX6B1 mitochondrial disease
  • COXFA4 mitochondrial disease
  • CP aceruloplasminemia
  • CPAMD8 anterior segment dysgenesis 8
  • CPLANE1 Joubert syndrome 17
  • CPS1 carbamoyl phosphate synthetase I deficiency disease
  • CPT1A carnitine palmitoyl transferase 1A deficiency
  • CPT2 carnitine palmitoyltransferase II deficiency
  • CR2 immunodeficiency, common variable, 7
  • CRADD syndromic intellectual disability
  • CRB1 inherited retinal dystrophy
  • CRB2 focal segmental glomerulosclerosis 9
  • CRBN intellectual disability
  • CRPPA myopathy caused by variation in CRPPA
  • CSF2RA surfactant metabolism dysfunction, pulmonary, 4
  • CSGALNACT1 skeletal dysplasia, mild, with joint laxity and advanced bone age
  • CSPP1 Joubert syndrome 21
  • CTC1 cerebroretinal microangiopathy with calcifications and cysts 1
  • CTH cystathioninuria
  • CTPS1 severe combined immunodeficiency due to CTPS1 deficiency
  • CTSA galactosialidosis
  • CTSD neuronal ceroid lipofuscinosis
  • CTSF adult neuronal ceroid lipofuscinosis
  • CTSK pycnodysostosis
  • CWC27 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
  • CWF19L1 autosomal recessive cerebellar ataxia
  • CYB5A methemoglobinemia type 4
  • CYB5R3 methemoglobinemia due to deficiency of methemoglobin reductase
  • CYC1 mitochondrial disease
  • CYP11B2 familial hyperreninemic hypoaldosteronism type 2
  • CYP1B1 CYP1B1-related glaucoma with or without anterior segment dysgenesis
  • CYP26B1 lethal occipital encephalocele-skeletal dysplasia syndrome
  • CYP27B1 vitamin D-dependent rickets, type 1A
  • CYP2U1 hereditary spastic paraplegia
  • CYP4V2 Bietti crystalline corneoretinal dystrophy
  • CYP7B1 CYP7B1-related disorder of oxysterol accumulation
  • D2HGDH mitochondrial disease
  • DAG1 neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
  • DARS2 mitochondrial disease
  • DAW1 visceral heterotaxy
  • DBT maple syrup urine disease
  • DCAF17 Woodhouse-Sakati syndrome
  • DCDC2 ciliopathy
  • DCHS1 van Maldergem syndrome
  • DCLRE1C severe combined immunodeficiency due to DCLRE1C deficiency
  • DDB2 xeroderma pigmentosum group E
  • DDC aromatic L-amino acid decarboxylase deficiency
  • DDHD1 hereditary spastic paraplegia
  • DDOST DDOST-congenital disorder of glycosylation
  • DDX11 Warsaw breakage syndrome
  • DEF6 immunodeficiency 87 and autoimmunity
  • DEGS1 leukodystrophy, hypomyelinating, 18
  • DGKE atypical hemolytic-uremic syndrome with DGKE deficiency; membranoproliferative glomerulonephritis
  • DGUOK mitochondrial disease
  • DHCR24 desmosterolosis
  • DHDDS DHDDS-CDG
  • DHODH postaxial acrofacial dysostosis
  • DHTKD1 2-aminoadipic 2-oxoadipic aciduria
  • DIS3L2 Perlman syndrome
  • DLAT Leigh syndrome
  • DLD Leigh syndrome; pyruvate dehydrogenase E3 deficiency
  • DNAAF1 primary ciliary dyskinesia 13
  • DNAAF11 primary ciliary dyskinesia 19
  • DNAAF19 primary ciliary dyskinesia 17
  • DNAAF2 primary ciliary dyskinesia 10
  • DNAAF3 primary ciliary dyskinesia 2
  • DNAAF4 primary ciliary dyskinesia 25
  • DNAAF5 primary ciliary dyskinesia 18
  • DNAH1 spermatogenic failure 18
  • DNAH10 spermatogenic failure 56
  • DNAH11 primary ciliary dyskinesia 7
  • DNAH17 spermatogenic failure 39
  • DNAH5 primary ciliary dyskinesia 3
  • DNAH6 spermatogenic failure
  • DNAH8 spermatogenic failure 46
  • DNAH9 ciliary dyskinesia, primary, 40
  • DNAI1 primary ciliary dyskinesia 1
  • DNAI2 primary ciliary dyskinesia 9
  • DNAJB13 primary ciliary dyskinesia 34
  • DNAJB2 neuronopathy, distal hereditary motor, autosomal recessive 5
  • DNAJC12 hyperphenylalaninemia due to DNAJC12 deficiency
  • DNAJC19 3-methylglutaconic aciduria type 5
  • DNAJC21 bone marrow failure syndrome 3
  • DNAJC30 Leber-like hereditary optic neuropathy, autosomal recessive 1
  • DNAL1 primary ciliary dyskinesia 16
  • DNASE1L3 autosomal systemic lupus erythematosus type 16
  • DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • DOCK2 DOCK2 deficiency
  • DOCK6 Adams-Oliver syndrome
  • DOCK7 genetic developmental and epileptic encephalopathy
  • DOCK8 combined immunodeficiency due to DOCK8 deficiency
  • DOK7 congenital myasthenic syndrome 10
  • DOLK DK1-congenital disorder of glycosylation
  • DPAGT1 DPAGT1-congenital disorder of glycosylation
  • DPH1 developmental delay with short stature, dysmorphic facial features, and sparse hair
  • DPM1 congenital disorder of glycosylation type 1E
  • DPM2 congenital muscular dystrophy with intellectual disability and severe epilepsy
  • DPM3 DPM3-congenital disorder of glycosylation
  • DPY19L2 male infertility due to globozoospermia
  • DRC1 primary ciliary dyskinesia 21
  • DRC2 primary ciliary dyskinesia 27
  • DRC4 primary ciliary dyskinesia 33
  • DSE Ehlers-Danlos syndrome, musculocontractural type 2
  • DST hereditary sensory and autonomic neuropathy type 6
  • DSTYK complex hereditary spastic paraplegia
  • DTNBP1 Hermansky-Pudlak syndrome 7
  • DYNC2H1 asphyxiating thoracic dystrophy 3
  • DYNC2I1 short-rib thoracic dysplasia 8 with or without polydactyly
  • DYNC2I2 short-rib thoracic dysplasia 11 with or without polydactyly
  • DYSF autosomal recessive limb-girdle muscular dystrophy
  • DZIP1L autosomal recessive polycystic kidney disease
  • EARS2 Leigh syndrome; mitochondrial disease
  • ECHS1 Leigh syndrome; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
  • EDAR ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • EDEM3 congenital disorder of glycosylation, type 2v
  • EDN3 Waardenburg syndrome type 4B
  • EDNRB Waardenburg syndrome type 4A
  • EFEMP2 cutis laxa, autosomal recessive, type 1B
  • EFL1 Shwachman-Diamond syndrome 2
  • EIF2AK4 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
  • EIF2B1 leukoencephalopathy with vanishing white matter 1
  • EIF2B2 leukoencephalopathy with vanishing white matter 2
  • EIF2B3 leukoencephalopathy with vanishing white matter 3
  • EIF2B4 leukoencephalopathy with vanishing white matter 4
  • EIF2B5 leukoencephalopathy with vanishing white matter 5
  • EIF3F syndromic intellectual disability
  • ELAC2 mitochondrial disease
  • ELP2 complex neurodevelopmental disorder with motor features
  • EMILIN1 arterial tortuosity-bone fragility syndrome
  • EML1 band heterotopia of brain
  • ENPP1 arterial calcification, generalized, of infancy, 1
  • ENTPD1 complex hereditary spastic paraplegia
  • EOGT Adams-Oliver syndrome 4
  • EPG5 Vici syndrome
  • EPM2A Lafora disease
  • EPS8 autosomal recessive nonsyndromic hearing loss 102
  • EPS8L2 nonsyndromic genetic hearing loss
  • ERCC2 xeroderma pigmentosum group D
  • ERCC3 xeroderma pigmentosum group B
  • ERCC4 xeroderma pigmentosum group F
  • ERCC5 xeroderma pigmentosum group G
  • ERCC6 Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
  • ERCC6L2 bone marrow failure syndrome
  • ERCC8 Cockayne syndrome type 1
  • ERLIN1 hereditary spastic paraplegia 62
  • ERLIN2 hereditary spastic paraplegia 18
  • ESCO2 Roberts-SC phocomelia syndrome
  • ESPN nonsyndromic genetic hearing loss
  • ESRRB nonsyndromic genetic hearing loss
  • ETFA multiple acyl-CoA dehydrogenase deficiency
  • ETFB multiple acyl-CoA dehydrogenase deficiency
  • ETFDH multiple acyl-CoA dehydrogenase deficiency
  • ETHE1 Leigh syndrome
  • EVC Ellis-van Creveld syndrome
  • EXOC6B spondyloepimetaphyseal dysplasia with joint laxity, type 3
  • EXOC7 neurodevelopmental disorder with seizures and brain atrophy
  • EXTL3 immunoskeletal dysplasia with neurodevelopmental abnormalities
  • EYS EYS-related retinopathy
  • F10 congenital factor X deficiency
  • F13A1 factor XIII, A subunit, deficiency of
  • F13B factor XIII, b subunit, deficiency of
  • F7 factor VII deficiency
  • FA2H hereditary spastic paraplegia 35
  • FADD FADD-related immunodeficiency
  • FAM149B1 Joubert syndrome 36
  • FAM20C lethal osteosclerotic bone dysplasia
  • FAN1 karyomegalic interstitial nephritis
  • FANCA Fanconi anemia complementation group A
  • FANCD2 Fanconi anemia complementation group D2
  • FANCE Fanconi anemia complementation group E
  • FANCF Fanconi anemia complementation group F
  • FANCG Fanconi anemia complementation group G
  • FANCI Fanconi anemia complementation group I
  • FANCL Fanconi anemia complementation group L
  • FANCM FANCM Fanconi-like genomic instability disorder
  • FARS2 mitochondrial disease; Leigh syndrome
  • FASLG autoimmune lymphoproliferative syndrome type 1
  • FASTKD2 mitochondrial disease
  • FAT1 focal segmental glomerulosclerosis
  • FAT4 FAT4-related neurodevelopmental disorder
  • FBP1 fructose-1,6-bisphosphatase deficiency
  • FBXL4 Leigh syndrome; mitochondrial disease
  • FCHO1 immunodeficiency 76
  • FDXR FDXR-related optic atrophy mitochondrial dysfunction syndrome
  • FECH protoporphyria, erythropoietic, 1
  • FERMT1 Kindler syndrome
  • FERMT3 leukocyte adhesion deficiency 3
  • FGD4 Charcot-Marie-Tooth disease
  • FGF3 deafness with labyrinthine aplasia, microtia, and microdontia
  • FIG4 Charcot-Marie-Tooth disease
  • FITM2 Siddiqi syndrome
  • FKRP myopathy caused by variation in FKRP
  • FKTN myopathy caused by variation in FKTN
  • FLAD1 myopathy with abnormal lipid metabolism
  • FLII cardiomyopathy, dilated, 2j
  • FLVCR1 FLVCR1-related retinopathy with or without ataxia
  • FLVCR2 Fowler syndrome
  • FMO3 trimethylaminuria
  • FNIP1 FNIP1-associated syndrome
  • FOLR1 neurodegenerative syndrome due to cerebral folate transport deficiency
  • FOXE1 Bamforth-Lazarus syndrome
  • FOXRED1 mitochondrial disease; Leigh syndrome
  • FRAS1 Fraser syndrome
  • FRRS1L genetic developmental and epileptic encephalopathy
  • FUCA1 fucosidosis
  • FUT8 congenital disorder of glycosylation with defective fucosylation 1
  • FXN Friedreich ataxia
  • G6PC3 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • GAD1 obsolete early infantile epileptic encephalopathy
  • GALE galactose epimerase deficiency
  • GALK1 galactokinase deficiency
  • GALM galactosemia 4
  • GALNS mucopolysaccharidosis type 4A
  • GALNT2 congenital disorder of glycosylation, type iit
  • GALNT3 tumoral calcinosis, hyperphosphatemic, familial, 1
  • GAMT guanidinoacetate methyltransferase deficiency
  • GAN giant axonal neuropathy 1
  • GBA2 complex hereditary spastic paraplegia
  • GBE1 glycogen storage disease due to glycogen branching enzyme deficiency
  • GCDH glutaryl-CoA dehydrogenase deficiency
  • GCSH multiple mitochondrial dysfunctions syndrome 7
  • GDAP2 spinocerebellar ataxia, autosomal recessive 27
  • GEMIN5 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • GFER mitochondrial disease
  • GFM1 Leigh syndrome
  • GFM2 Leigh syndrome
  • GFPT1 congenital myasthenic syndrome 12
  • GINS1 combined immunodeficiency due to GINS1 deficiency
  • GIPC3 nonsyndromic genetic hearing loss
  • GJC2 hypomyelinating leukodystrophy 2
  • GLB1 GM1 gangliosidosis; mucopolysaccharidosis type 4B
  • GLDN lethal congenital contracture syndrome 11
  • GLS glutaminase deficiency
  • GLYCTK D-glyceric aciduria
  • GM2A Tay-Sachs disease AB variant
  • GMPPA alacrima, achalasia, and intellectual disability syndrome
  • GMPPB myopathy caused by variation in GMPPB
  • GNAT2 GNAT2-related retinopathy
  • GNE thrombocytopenia 12 with or without myopathy
  • GNPAT glyceronephosphate O-acyltransferase deficiency
  • GNPTAB GNPTAB-mucolipidosis
  • GNPTG GNPTG-mucolipidosis
  • GNS mucopolysaccharidosis type 3D
  • GORAB geroderma osteodysplastica
  • GOSR2 progressive myoclonus epilepsy
  • GOT2 mitochondrial disease
  • GP1BB Bernard-Soulier syndrome
  • GP6 platelet-type bleeding disorder 11
  • GP9 Bernard-Soulier syndrome
  • GPAA1 glycosylphosphatidylinositol biosynthesis defect 15
  • GPHN sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
  • GPR179 GPR179-related retinopathy
  • GPSM2 Chudley-McCullough syndrome
  • GPT2 glutamate pyruvate transaminase 2 deficiency
  • GRIP1 Fraser syndrome 3
  • GRK1 Oguchi disease
  • GRM6 GRM6-related retinopathy
  • GRXCR1 nonsyndromic genetic hearing loss
  • GRXCR2 nonsyndromic genetic hearing loss
  • GSS inherited glutathione synthetase deficiency
  • GSTZ1 maleylacetoacetate isomerase deficiency
  • GTPBP2 Jaberi-Elahi syndrome
  • GTPBP3 mitochondrial disease; Leigh syndrome
  • GUSB mucopolysaccharidosis type 7
  • GYG1 polyglucosan body myopathy type 2
  • GYS1 glycogen storage disease due to muscle and heart glycogen synthase deficiency
  • GYS2 glycogen storage disorder due to hepatic glycogen synthase deficiency
  • HAAO vertebral, cardiac, renal, and limb defects syndrome 1
  • HACD1 congenital myopathy
  • HADH obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
  • HADHA long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • HADHB mitochondrial trifunctional protein deficiency
  • HAMP hemochromatosis type 2B
  • HELLS immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • HEXB Sandhoff disease
  • HGD alkaptonuria
  • HGF nonsyndromic genetic hearing loss
  • HGSNAT inherited retinal dystrophy; mucopolysaccharidosis type 3C
  • HIBCH 3-hydroxyisobutyryl-CoA hydrolase deficiency; Leigh syndrome
  • HIKESHI hypomyelinating leukodystrophy 13
  • HINT1 Charcot-Marie-Tooth disease
  • HJV hemochromatosis type 2A
  • HLCS holocarboxylase synthetase deficiency
  • HMGCL 3-hydroxy-3-methylglutaric aciduria
  • HMGCR autosomal recessive limb-girdle muscular dystrophy
  • HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
  • HMOX1 heme oxygenase 1 deficiency
  • HMX1 oculoauricular syndrome
  • HOGA1 primary hyperoxaluria type 3
  • HOXA1 syndromic intellectual disability
  • HPD tyrosinemia type III
  • HPDL Leigh syndrome
  • HPS1 Hermansky-Pudlak syndrome 1
  • HPS3 Hermansky-Pudlak syndrome 3
  • HPS4 Hermansky-Pudlak syndrome 4
  • HPS5 Hermansky-Pudlak syndrome 5
  • HPS6 Hermansky-Pudlak syndrome 6
  • HSD11B2 apparent mineralocorticoid excess
  • HSD17B4 Perrault syndrome; d-bifunctional protein deficiency
  • HSD3B7 congenital bile acid synthesis defect 1
  • HSPG2 Schwartz-Jampel syndrome type 1; Silverman-Handmaker type dyssegmental dysplasia
  • HTRA2 3-methylglutaconic aciduria type 8
  • HYAL1 mucopolysaccharidosis type 9
  • HYCC1 hypomyelinating leukodystrophy 5
  • HYDIN primary ciliary dyskinesia 5
  • IARS2 mitochondrial disease
  • IBA57 mitochondrial disease
  • ICOS common variable immunodeficiency
  • ICOSLG combined immunodeficiency
  • IDH3B IDH3B-related retinopathy
  • IFNAR1 immunodeficiency 106, susceptibility to viral infections
  • IFNAR2 immunodeficiency 45
  • IFT122 cranioectodermal dysplasia 1
  • IFT172 ciliopathy
  • IFT27 ciliopathy
  • IFT43 ciliopathy
  • IFT52 short-rib thoracic dysplasia 16 with or without polydactyly
  • IFT57 ciliopathy
  • IFT74 ciliopathy-IFT74
  • IFT80 asphyxiating thoracic dystrophy 2
  • IFT81 short-rib thoracic dysplasia 19 with or without polydactyly
  • IGHM autosomal recessive agammaglobulinemia 1
  • IGHMBP2 hereditary peripheral neuropathy
  • IL10RA inflammatory bowel disease 28
  • IL10RB inflammatory bowel disease 25
  • IL11RA craniosynostosis and dental anomalies
  • IL21R immunodeficiency disease
  • IL2RA immunodeficiency due to CD25 deficiency
  • IL2RB immunodeficiency 63 with lymphoproliferation and autoimmunity
  • IL7R immunodeficiency 104
  • ILDR1 nonsyndromic genetic hearing loss
  • IMPG2 IMPG2-related recessive retinopathy
  • INPP5E Joubert syndrome 1; MORM syndrome
  • INPPL1 opsismodysplasia
  • INTU INTU-related skeletal ciliopathy
  • INVS nephronophthisis 2
  • IQCB1 ciliopathy
  • ISCA2 mitochondrial disease
  • ISCU mitochondrial disease
  • ITCH syndromic multisystem autoimmune disease due to ITCH deficiency
  • ITGA3 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
  • ITK lymphoproliferative syndrome 1
  • ITPA genetic developmental and epileptic encephalopathy
  • IVD isovaleric acidemia
  • JAG2 autosomal recessive limb-girdle muscular dystrophy
  • JAK3 T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • KATNIP ciliopathy
  • KCNJ1 Bartter disease type 2
  • KCNJ10 EAST syndrome
  • KCNJ16 hypokalemic alkalosis, familial, with specific renal tubulopathy
  • KCNV2 inherited retinal dystrophy
  • KCTD7 progressive myoclonus epilepsy
  • KDM5B intellectual disability
  • KDSR erythrokeratodermia variabilis et progressiva 4
  • KIAA1549 retinitis pigmentosa 86
  • KIF26A complex cortical dysplasia with other brain malformations
  • KIFBP Goldberg-Shprintzen syndrome
  • KIZ KIZ-related retinopathy
  • KLHL24 hypertrophic cardiomyopathy
  • KLHL40 nemaline myopathy 8
  • KLHL41 nemaline myopathy 9
  • KLKB1 inherited prekallikrein deficiency
  • KNG1 congenital high-molecular-weight kininogen deficiency
  • KPTN complex neurodevelopmental disorder
  • KYNU vertebral, cardiac, renal, and limb defects syndrome 2
  • L2HGDH mitochondrial disease
  • LAMA2 LAMA2-related muscular dystrophy
  • LAMA5 LAMA5-related multisystemic syndrome
  • LAMB1 cobblestone lissencephaly without muscular or ocular involvement
  • LARGE1 muscular dystrophy-dystroglycanopathy
  • LARS2 Perrault syndrome
  • LAT severe combined immunodeficiency due to LAT deficiency
  • LBR Greenberg dysplasia; regressive spondylometaphyseal dysplasia
  • LCA5 LCA5-related retinopathy
  • LCK severe combined immunodeficiency due to LCK deficiency
  • LDB3 cardiomyopathy, dilated, 2l
  • LDLRAP1 hypercholesterolemia, familial, 4
  • LHFPL5 nonsyndromic genetic hearing loss
  • LIAS mitochondrial disease
  • LIFR obsolete Stüve-Wiedemann syndrome
  • LIG1 immunodeficiency 96
  • LIG3 mitochondrial disease
  • LIG4 DNA ligase IV deficiency
  • LINS1 complex neurodevelopmental disorder
  • LIPA lysosomal acid lipase deficiency
  • LIPE LIPE-related familial partial lipodystrophy
  • LIPT1 Leigh syndrome
  • LMAN1 factor V and factor VIII, combined deficiency of, type 1
  • LMBRD1 methylmalonic aciduria and homocystinuria type cblF
  • LMOD2 cardiomyopathy, dilated, 2G
  • LMOD3 nemaline myopathy 10
  • LOXHD1 nonsyndromic genetic hearing loss
  • LPIN1 myoglobinuria, acute recurrent, autosomal recessive
  • LPIN2 Majeed syndrome
  • LRAT inherited retinal dystrophy
  • LRBA combined immunodeficiency due to LRBA deficiency
  • LRP4 Cenani-Lenz syndactyly syndrome
  • LRP5 LRP5-related exudative vitreoretinopathy
  • LRPPRC Leigh syndrome; mitochondrial disease
  • LRRC56 ciliary dyskinesia, primary, 39
  • LRTOMT autosomal recessive nonsyndromic hearing loss 63
  • LTBP2 glaucoma 3, primary congenital, D
  • LYRM7 mitochondrial disease
  • LYST Chediak-Higashi syndrome
  • LZTFL1 LZTFL1-related ciliopathy
  • MAB21L1 cerebellar, ocular, craniofacial, and genital syndrome
  • MAG complex hereditary spastic paraplegia
  • MAK MAK-related retinopathy
  • MALT1 combined immunodeficiency due to MALT1 deficiency
  • MAN1B1 MAN1B1-congenital disorder of glycosylation
  • MAN2B1 alpha-mannosidosis
  • MAN2C1 congenital disorder of deglycosylation 2
  • MANBA beta-mannosidosis
  • MAP3K14 NIK deficiency
  • MAP3K20 myopathy, centronuclear, 6, with fiber-type disproportion
  • MAPKBP1 nephronophthisis 20
  • MARS2 mitochondrial disease
  • MARVELD2 nonsyndromic genetic hearing loss
  • MASP1 3MC syndrome 1
  • MAT1A methionine adenosyltransferase deficiency
  • MBOAT7 complex neurodevelopmental disorder
  • MBTPS1 spondyloepiphyseal dysplasia, kondo-fu type
  • MCCC1 3-methylcrotonyl-CoA carboxylase deficiency
  • MCCC2 3-methylcrotonyl-CoA carboxylase deficiency
  • MCEE methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
  • MCFD2 factor 5 and Factor VIII, combined deficiency of, 2
  • MCIDAS ciliary dyskinesia, primary, 42
  • MCM10 immunodeficiency 80 with or without congenital cardiomyopathy
  • MCM3AP peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
  • MCM4 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
  • MCM9 MCM9-related gametogenic failure
  • MCPH1 microcephaly with intellectual disability
  • MECR Leigh syndrome
  • MED23 syndromic intellectual disability
  • MEGF10 MEGF10-related myopathy
  • MEGF8 MEGF8-related Carpenter syndrome
  • MERTK MERTK-related retinopathy
  • METTL23 intellectual disability
  • MFF Leigh syndrome; encephalopathy due to mitochondrial and peroxisomal fission defect
  • MFSD8 neuronal ceroid lipofuscinosis
  • MGAT2 MGAT2-congenital disorder of glycosylation
  • MGME1 mitochondrial disease
  • MGP Keutel syndrome
  • MICOS13 mitochondrial disease
  • MICU1 mitochondrial disease
  • MINPP1 pontocerebellar hypoplasia
  • MIPEP mitochondrial disease
  • MKKS MKKS-related ciliopathy
  • MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
  • MLYCD malonic aciduria
  • MMAA methylmalonic aciduria, cblA type
  • MMAB methylmalonic aciduria, cblB type
  • MMACHC methylmalonic aciduria and homocystinuria type cblC
  • MMADHC inborn disorder of cobalamin metabolism and transport
  • MME Charcot-Marie-Tooth disease type 2T
  • MMUT methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • MOCOS xanthinuria type II
  • MOCS1 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
  • MOCS2 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
  • MOGS MOGS-congenital disorder of glycosylation
  • MPC1 mitochondrial disease
  • MPDU1 MPDU1-congenital disorder of glycosylation
  • MPI MPI-congenital disorder of glycosylation
  • MPIG6B thrombocytopenia, anemia, and myelofibrosis
  • MPV17 mitochondrial disease
  • MPZL2 nonsyndromic genetic hearing loss
  • MRPL3 mitochondrial disease
  • MRPL39 mitochondrial disease
  • MRPL44 mitochondrial disease
  • MRPS2 mitochondrial disease
  • MRPS22 mitochondrial disease
  • MRPS34 Leigh syndrome
  • MSH3 familial adenomatous polyposis 4
  • MSRB3 nonsyndromic genetic hearing loss
  • MSTO1 mitochondrial disease
  • MTFMT Leigh syndrome
  • MTHFD1 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • MTMR2 demyelinating hereditary motor and sensory neuropathy
  • MTO1 mitochondrial disease
  • MTPAP mitochondrial disease
  • MTR methylcobalamin deficiency type cblG
  • MTRFR Leigh syndrome; mitochondrial disease
  • MTRR methylcobalamin deficiency type cblE
  • MTX2 mandibuloacral dysplasia progeroid syndrome
  • MUSK congenital myasthenic syndrome 9
  • MVK mevalonate kinase deficiency
  • MYMK obsolete Carey-Fineman-Ziter syndrome
  • MYO15A nonsyndromic genetic hearing loss
  • MYO18B Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
  • MYO3A nonsyndromic genetic hearing loss
  • MYO5A Griscelli syndrome type 1
  • MYO7A Usher syndrome type 1
  • MYPN MYPN-related myopathy
  • MYSM1 bone marrow failure syndrome 4
  • MYZAP cardiomyopathy, dilated, 2K
  • NAA20 syndromic intellectual disability
  • NADK2 progressive encephalopathy with leukodystrophy due to DECR deficiency
  • NADSYN1 vertebral, cardiac, renal, and limb defects syndrome 3
  • NAGA alpha-N-acetylgalactosaminidase deficiency
  • NAGLU mucopolysaccharidosis type 3B
  • NAGS hyperammonemia due to N-acetylglutamate synthase deficiency
  • NANS spondyloepimetaphyseal dysplasia, Genevieve type
  • NARS2 mitochondrial disease
  • NAXD mitochondrial disease
  • NAXE mitochondrial disease
  • NBEAL2 gray platelet syndrome
  • NBN Nijmegen breakage syndrome
  • NCKAP1L immunodeficiency 72 with autoinflammation
  • NDE1 microcephaly with lissencephaly and/or hydranencephaly
  • NDUFA10 mitochondrial disease
  • NDUFA12 mitochondrial disease
  • NDUFA13 Leigh syndrome; mitochondrial disease
  • NDUFA2 mitochondrial disease; Leigh syndrome
  • NDUFA6 mitochondrial disease
  • NDUFA8 mitochondrial disease
  • NDUFA9 Leigh syndrome; mitochondrial disease
  • NDUFAF1 mitochondrial disease
  • NDUFAF2 Leigh syndrome; mitochondrial disease
  • NDUFAF3 mitochondrial disease
  • NDUFAF5 Leigh syndrome; mitochondrial disease
  • NDUFAF6 Leigh syndrome; mitochondrial disease
  • NDUFAF8 Leigh syndrome; mitochondrial disease
  • NDUFB10 mitochondrial disease
  • NDUFB3 mitochondrial disease
  • NDUFB8 Leigh syndrome; mitochondrial disease
  • NDUFC2 Leigh syndrome; mitochondrial disease
  • NDUFS1 Leigh syndrome; mitochondrial disease
  • NDUFS2 Leigh syndrome; mitochondrial disease
  • NDUFS3 Leigh syndrome; mitochondrial disease
  • NDUFS4 Leigh syndrome; mitochondrial disease
  • NDUFS6 mitochondrial disease
  • NDUFS7 mitochondrial disease; Leigh syndrome
  • NDUFS8 mitochondrial disease; Leigh syndrome
  • NDUFV1 Leigh syndrome; mitochondrial disease
  • NDUFV2 mitochondrial disease
  • NEB nemaline myopathy 2
  • NECAP1 genetic developmental and epileptic encephalopathy
  • NECTIN1 cleft lip/palate-ectodermal dysplasia syndrome
  • NEK10 ciliary dyskinesia, primary, 44
  • NEMF intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • NEU1 sialidosis
  • NFU1 mitochondrial disease
  • NGF hereditary sensory and autonomic neuropathy
  • NGLY1 congenital disorder of deglycosylation 1
  • NHEJ1 Cernunnos-XLF deficiency
  • NHLRC1 Lafora disease
  • NME5 ciliary dyskinesia, primary, 48, without situs inversus
  • NMNAT1 NMNAT1-related retinopathy
  • NNT mitochondrial disease
  • NPC1 Niemann-Pick disease, type C1
  • NPC2 Niemann-Pick disease, type C2
  • NPHP1 nephronophthisis 1
  • NPHP3 nephronophthisis
  • NPHP4 nephronophthisis 4
  • NRAP dilated cardiomyopathy
  • NRROS seizures, early-onset, with neurodegeneration and brain calcifications
  • NSMCE2 Seckel syndrome 10
  • NSRP1 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
  • NSUN2 syndromic intellectual disability
  • NT5C2 complex hereditary spastic paraplegia
  • NTHL1 NTHL1-deficiency tumor predisposition syndrome
  • NTRK1 hereditary sensory and autonomic neuropathy type 4
  • NUBPL mitochondrial disease; Leigh syndrome
  • NUP133 nephrotic syndrome, type 18
  • NUP160 nephrotic syndrome, type 19
  • NUP188 sandestig-stefanova syndrome
  • NUP93 nephrotic syndrome, type 12
  • OCA2 oculocutaneous albinism type 2
  • ODAD1 primary ciliary dyskinesia 20
  • ODAD2 primary ciliary dyskinesia 23
  • ODAD3 primary ciliary dyskinesia 30
  • ODAD4 primary ciliary dyskinesia 35
  • OGDH mitochondrial disease
  • ORC4 Meier-Gorlin syndrome 2
  • ORC6 Meier-Gorlin syndrome 3
  • OSTM1 autosomal recessive osteopetrosis 5
  • OTOA nonsyndromic genetic hearing loss
  • OTOF nonsyndromic genetic hearing loss
  • OTOG nonsyndromic genetic hearing loss
  • OTOGL nonsyndromic genetic hearing loss
  • OTUD6B syndromic intellectual disability
  • OTULIN autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
  • OXCT1 mitochondrial disease
  • PAN2 syndromic complex neurodevelopmental disorder
  • PARK7 Parkinson disease
  • PARS2 mitochondrial disease
  • PAX1 otofaciocervical syndrome 2
  • PAX7 congenital myopathy with myasthenic-like onset
  • PC pyruvate carboxylase deficiency disease
  • PCARE PCARE-related retinopathy
  • PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 deficiency
  • PCCA propionic acidemia
  • PCCB propionic acidemia
  • PCDH15 Usher syndrome type 1F
  • PCK1 phosphoenolpyruvate carboxykinase deficiency, cytosolic
  • PCNT microcephalic osteodysplastic primordial dwarfism type II
  • PCYT1A spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
  • PDE6A PDE6A-related retinopathy
  • PDE6B inherited retinal dystrophy
  • PDE6C PDE6C-related retinopathy
  • PDE6D ciliopathy
  • PDE6G PDE6G-related retinopathy
  • PDHB Leigh syndrome
  • PDHX Leigh syndrome; mitochondrial disease
  • PDSS1 mitochondrial disease
  • PDSS2 Leigh syndrome
  • PDZD7 hearing loss, autosomal recessive
  • PEPD prolidase deficiency
  • PEX1 peroxisome biogenesis disorder due to PEX1 defect
  • PEX10 peroxisome biogenesis disorder
  • PEX11B peroxisome biogenesis disorder
  • PEX12 peroxisome biogenesis disorder
  • PEX13 peroxisome biogenesis disorder
  • PEX14 peroxisome biogenesis disorder
  • PEX16 peroxisome biogenesis disorder
  • PEX19 peroxisome biogenesis disorder
  • PEX2 peroxisome biogenesis disorder
  • PEX26 peroxisome biogenesis disorder
  • PEX3 peroxisome biogenesis disorder
  • PEX5 peroxisome biogenesis disorder
  • PEX6 peroxisome biogenesis disorder
  • PEX7 peroxisome biogenesis disorder
  • PGAP3 hyperphosphatasia with intellectual disability syndrome 4
  • PGM1 PGM1-congenital disorder of glycosylation
  • PGM3 immunodeficiency 23
  • PHGDH neurometabolic disorder due to serine deficiency
  • PHKB glycogen storage disease IXb
  • PHKG2 glycogen storage disease IXc
  • PHYH phytanoyl-CoA hydroxylase deficiency
  • PIDD1 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
  • PIGB developmental and epileptic encephalopathy, 80
  • PIGL syndromic intellectual disability
  • PIGN multiple congenital anomalies-hypotonia-seizures syndrome 1
  • PIGO complex neurodevelopmental disorder
  • PIGP developmental and epileptic encephalopathy, 55
  • PIGQ developmental and epileptic encephalopathy, 77
  • PIGS glycosylphosphatidylinositol biosynthesis defect 18
  • PIGT multiple congenital anomalies-hypotonia-seizures syndrome 3
  • PIGV hyperphosphatasia with intellectual disability syndrome 1
  • PIK3CG immunodeficiency 97 with autoinflammation
  • PINK1 Parkinson disease
  • PISD Liberfarb syndrome
  • PJVK nonsyndromic genetic hearing loss
  • PKHD1 autosomal recessive polycystic kidney disease
  • PKLR pyruvate kinase deficiency of red cells
  • PLA2G4A cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
  • PLA2G6 PLA2G6-associated neurodegeneration
  • PLCB1 genetic developmental and epileptic encephalopathy
  • PLCE1 nephrotic syndrome, type 3
  • PLD1 PLD1-related congenital heart disease
  • PLEC PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
  • PLEKHG5 neuromuscular disease
  • PLG hypoplasminogenemia
  • PMM2 PMM2-congenital disorder of glycosylation; hyperinsulinemic hypoglycemia with polycystic kidney disease
  • PMPCA mitochondrial disease
  • PNKP microcephaly, seizures, and developmental delay
  • PNP purine nucleoside phosphorylase deficiency
  • PNPLA2 neutral lipid storage myopathy
  • PNPLA6 PNPLA6-related spastic paraplegia with or without ataxia; retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
  • PNPLA8 mitochondrial disease
  • PNPO pyridoxal phosphate-responsive seizures
  • PNPT1 Leigh syndrome
  • POC1B cone-rod dystrophy 20
  • POGLUT1 autosomal recessive limb-girdle muscular dystrophy
  • POLH xeroderma pigmentosum variant type
  • POLR1C POLR1C-related disorder; Treacher Collins syndrome 3
  • POLR3A POLR3A-related disorder
  • POMGNT2 myopathy caused by variation in POMGNT2
  • POMT1 myopathy caused by variation in POMT1
  • POMT2 myopathy caused by variation in POMT2
  • POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  • PPA2 dilated cardiomyopathy
  • PPM1K maple syrup urine disease, mild variant
  • PPP1R13L arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
  • PPP1R21 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
  • PRF1 familial hemophagocytic lymphohistiocytosis 2
  • PRG4 camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • PRIM1 primordial dwarfism-immunodeficiency-lipodystrophy syndrome
  • PRKCD systemic lupus erythematosus
  • PRKDC severe combined immunodeficiency due to DNA-PKcs deficiency
  • PRKN Parkinson disease
  • PRODH hyperprolinemia type 1
  • PRORP mitochondrial disease
  • PRSS56 isolated microphthalmia 6
  • PRX Charcot-Marie-Tooth disease type 4
  • PSAP Gaucher disease due to saposin C deficiency; combined PSAP deficiency; metachromatic leukodystrophy due to saposin B deficiency
  • PSAT1 neurometabolic disorder due to serine deficiency
  • PSPH neurometabolic disorder due to serine deficiency
  • PTPRC immunodeficiency 104
  • PTPRQ hearing loss, autosomal recessive
  • PTS BH4-deficient hyperphenylalaninemia A
  • PUS1 mitochondrial disease
  • PXDN anterior segment dysgenesis 7
  • PYCR1 autosomal recessive cutis laxa type 2B
  • PYCR2 leukodystrophy, hypomyelinating, 10
  • PYGL glycogen storage disease VI
  • PYGM glycogen storage disease V
  • PYROXD1 myofibrillar myopathy 8
  • QARS1 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • QDPR dihydropteridine reductase deficiency
  • RAB18 Warburg micro syndrome
  • RAB23 RAB23-related Carpenter syndrome
  • RAB27A Griscelli syndrome type 2
  • RAB28 RAB28-related retinopathy
  • RAB3GAP1 Warburg micro syndrome
  • RAB3GAP2 Warburg micro syndrome
  • RAG1 recombinase activating gene 1 deficiency
  • RAG2 recombinase activating gene 2 deficiency
  • RARS1 hypomyelinating leukodystrophy 9
  • RARS2 mitochondrial disease
  • RASGRP1 immunodeficiency 64
  • RASGRP2 platelet-type bleeding disorder 18
  • RBCK1 polyglucosan body myopathy 1 with or without immunodeficiency
  • RBM8A thrombocytopenia-absent radius syndrome
  • RBP4 progressive retinal dystrophy due to retinol transport defect
  • RCBTB1 RCBTB1-related retinopathy
  • RD3 RD3-related retinopathy
  • RDH5 RDH5-related retinopathy
  • RDX nonsyndromic genetic hearing loss
  • REEP6 inherited retinal dystrophy
  • REL immunodeficiency 92
  • RELB immunodeficiency 53
  • RELN lissencephaly with cerebellar hypoplasia
  • RETREG1 hereditary sensory and autonomic neuropathy
  • RFC1 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • RFT1 RFT1-congenital disorder of glycosylation
  • RFX5 MHC class II deficiency
  • RFXANK MHC class II deficiency
  • RFXAP MHC class II deficiency
  • RGS9 bradyopsia
  • RIN2 RIN2 syndrome
  • RIPK1 immunodeficiency 57
  • RLBP1 RLBP1-related retinopathy
  • RMND1 mitochondrial disease
  • RNASEH2A RNASEH2A-related type 1 interferonopathy
  • RNASEH2B RNASEH2B-related type 1 interferonopathy
  • RNASEH2C RNASEH2C-related type 1 interferonopathy
  • RNF168 RIDDLE syndrome
  • RNU12 RNU12-related minor spliceopathy disorder
  • RNU4ATAC RNU4ATAC spectrum disorder
  • RNU7-1 RNU7-1-related type 1 interferonopathy
  • ROBO3 gaze palsy, familial horizontal, with progressive scoliosis 1
  • ROGDI amelocerebrohypohidrotic syndrome
  • RPGRIP1L ciliopathy
  • RPL3L cardiomyopathy, dilated, 2D
  • RSPH1 primary ciliary dyskinesia 24
  • RSPH3 primary ciliary dyskinesia 32
  • RSPH4A primary ciliary dyskinesia 11
  • RSPH9 primary ciliary dyskinesia 12
  • RSRC1 complex neurodevelopmental disorder
  • RTN4IP1 optic atrophy 10 with or without ataxia, intellectual disability, and seizures
  • RTTN microcephalic primordial dwarfism due to RTTN deficiency
  • RUSC2 intellectual disability, autosomal recessive 61
  • RXYLT1 muscle-eye-brain disease
  • SAG retinitis pigmentosa 47
  • SAMHD1 SAMHD1-related type 1 interferonopathy
  • SARS2 mitochondrial disease
  • SBDS Shwachman-Diamond syndrome
  • SBF1 Charcot-Marie-Tooth disease type 4B3
  • SBF2 Charcot-Marie-Tooth disease type 4B2
  • SCAPER intellectual developmental disorder and retinitis pigmentosa; IDDRP
  • SCARB2 progressive myoclonus epilepsy
  • SCLT1 ciliopathy
  • SCN4A SCN4A-related myopathy, autosomal recessive
  • SCNN1A pseudohypoaldosteronism, type IB1, autosomal recessive
  • SCO1 mitochondrial disease
  • SCO2 Leigh syndrome; mitochondrial disease; Charcot-Marie-Tooth disease
  • SCP2 sterol carrier protein 2 deficiency
  • SDCCAG8 Bardet-Biedl syndrome 16
  • SDHAF1 mitochondrial disease
  • SEC23B congenital dyserythropoietic anemia type 2
  • SELENBP1 extraoral halitosis due to methanethiol oxidase deficiency
  • SELENON SELENON-related myopathy
  • SERAC1 Leigh syndrome
  • SERPINB6 nonsyndromic genetic hearing loss
  • SERPINF2 alpha-2-plasmin inhibitor deficiency
  • SFTPB surfactant metabolism dysfunction, pulmonary, 1
  • SFXN4 mitochondrial disease
  • SGCA autosomal recessive limb-girdle muscular dystrophy
  • SGCB autosomal recessive limb-girdle muscular dystrophy
  • SGCD autosomal recessive limb-girdle muscular dystrophy
  • SGCG autosomal recessive limb-girdle muscular dystrophy
  • SGPL1 nephrotic syndrome 14
  • SGSH mucopolysaccharidosis type 3A
  • SH3PXD2B Frank-Ter Haar syndrome
  • SH3TC2 Charcot-Marie-Tooth disease type 4C
  • SIL1 Marinesco-Sjogren syndrome
  • SKIC2 trichohepatoenteric syndrome 2
  • SKIC3 trichohepatoenteric syndrome 1
  • SLC10A7 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
  • SLC11A2 microcytic anemia with liver iron overload
  • SLC12A1 obsolete antenatal Bartter syndrome
  • SLC18A2 brain dopamine-serotonin vesicular transport disease
  • SLC19A3 Leigh syndrome
  • SLC1A4 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
  • SLC22A5 systemic primary carnitine deficiency disease
  • SLC24A1 inherited retinal dystrophy
  • SLC25A1 mitochondrial disease
  • SLC25A12 mitochondrial disease
  • SLC25A13 citrin deficiency
  • SLC25A15 ornithine translocase deficiency
  • SLC25A20 carnitine-acylcarnitine translocase deficiency
  • SLC25A22 genetic developmental and epileptic encephalopathy
  • SLC25A26 mitochondrial disease
  • SLC25A3 mitochondrial disease
  • SLC25A4 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
  • SLC25A46 neuropathy, hereditary motor and sensory, type 6B
  • SLC29A3 H syndrome
  • SLC2A10 arterial tortuosity syndrome
  • SLC30A9 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • SLC34A1 hypercalcemia, infantile, 2
  • SLC35C1 leukocyte adhesion deficiency type II
  • SLC35D1 schneckenbecken dysplasia
  • SLC38A8 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
  • SLC39A13 Ehlers-Danlos syndrome, spondylocheirodysplastic type
  • SLC39A4 acrodermatitis enteropathica
  • SLC39A7 agammaglobulinemia
  • SLC3A1 cystinuria
  • SLC46A1 hereditary folate malabsorption
  • SLC4A10 complex neurodevelopmental disorder
  • SLC52A2 Brown-Vialetto-van Laere syndrome 2
  • SLC52A3 Brown-Vialetto-van Laere syndrome 1
  • SLC6A19 Hartnup disease
  • SLC6A3 SLC6A3-related dopamine transporter deficiency syndrome
  • SLC6A5 hyperekplexia 3
  • SLC6A9 atypical glycine encephalopathy
  • SLC7A9 cystinuria
  • SLC9A1 Lichtenstein-Knorr syndrome
  • SLITRK6 high myopia-sensorineural deafness syndrome
  • SLX4 Fanconi anemia complementation group P
  • SMARCAL1 Schimke immuno-osseous dysplasia
  • SMG8 Alzahrani-Kuwahara syndrome
  • SNUPN SNUPN-related muscular dystrophy with or without multi-system involvement
  • SNX10 autosomal recessive osteopetrosis 8
  • SNX14 autosomal recessive spinocerebellar ataxia 20
  • SORD Charcot-Marie-Tooth disease
  • SP110 hepatic veno-occlusive disease-immunodeficiency syndrome
  • SPAG1 primary ciliary dyskinesia 28
  • SPART Troyer syndrome
  • SPATA7 inherited retinal dystrophy
  • SPEF2 primary ciliary dyskinesia
  • SPEG myopathy, centronuclear, 5
  • SPG11 hereditary spastic paraplegia 11
  • SPG7 mitochondrial disease
  • SPINK5 Netherton syndrome
  • SPR dopa-responsive dystonia due to sepiapterin reductase deficiency
  • SPTBN4 neurodevelopmental disorder with hypotonia, neuropathy, and deafness
  • SRD5A3 SRD5A3-congenital disorder of glycosylation
  • ST3GAL3 complex neurodevelopmental disorder
  • ST3GAL5 GM3 synthase deficiency
  • STAC3 Bailey-Bloch congenital myopathy
  • STIL autosomal recessive primary microcephaly
  • STK36 ciliary dyskinesia, primary, 46
  • STK4 combined immunodeficiency due to STK4 deficiency
  • STN1 cerebroretinal microangiopathy with calcifications and cysts 2
  • STRC nonsyndromic genetic hearing loss
  • STX11 familial hemophagocytic lymphohistiocytosis 4
  • STXBP2 familial hemophagocytic lymphohistiocytosis 5
  • SUCLA2 Leigh syndrome; mitochondrial disease
  • SUCLG1 Leigh syndrome
  • SUGCT glutaric acidemia type 3
  • SUMF1 mucosulfatidosis
  • SUOX isolated sulfite oxidase deficiency
  • SURF1 Leigh syndrome; mitochondrial disease
  • SYCE1 SYCE1-related gametogenic failure
  • SYNE1 autosomal recessive ataxia, Beauce type; arthrogryposis multiplex congenita 3, myogenic type
  • SYNE4 nonsyndromic genetic hearing loss
  • SYNJ1 genetic developmental and epileptic encephalopathy
  • SZT2 genetic developmental and epileptic encephalopathy
  • TACO1 mitochondrial disease; Leigh syndrome
  • TAMM41 mitochondrial disease
  • TAP1 MHC class I deficiency
  • TAP2 MHC class I deficiency
  • TAPBP MHC class I deficiency
  • TARS2 mitochondrial disease
  • TAT tyrosinemia type II
  • TBC1D24 DOORS syndrome
  • TBC1D32 ciliopathy
  • TBCD early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
  • TBCE encephalopathy, progressive, with amyotrophy and optic atrophy
  • TBCK syndromic complex neurodevelopmental disorder
  • TBXAS1 ghosal hematodiaphyseal dysplasia
  • TCAP autosomal recessive limb-girdle muscular dystrophy
  • TCIRG1 autosomal recessive osteopetrosis 1
  • TCN2 transcobalamin II deficiency
  • TCTN1 ciliopathy
  • TCTN2 Joubert syndrome 24
  • TCTN3 ciliopathy
  • TDP2 spinocerebellar ataxia, autosomal recessive 23
  • TECRL catecholaminergic polymorphic ventricular tachycardia
  • TELO2 TELO2-related intellectual disability-neurodevelopmental disorder
  • TF atransferrinemia
  • TFR2 hemochromatosis type 3
  • TFRC TFRC-related combined immunodeficiency
  • TGDS Catel-Manzke syndrome
  • TH tyrosine hydroxylase deficiency
  • THOC6 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • TIMM50 3-methylglutaconic aciduria type 9
  • TIMMDC1 mitochondrial disease
  • TK2 mitochondrial disease
  • TMEM126A autosomal recessive optic atrophy, OPA7 type; mitochondrial disease
  • TMEM126B mitochondrial disease
  • TMEM138 ciliopathy
  • TMEM165 TMEM165-congenital disorder of glycosylation
  • TMEM216 ciliopathy
  • TMEM231 ciliopathy
  • TMEM237 Joubert syndrome 14
  • TMEM67 ciliopathy
  • TMEM70 mitochondrial disease
  • TMEM94 intellectual developmental disorder with cardiac defects and dysmorphic facies
  • TMIE nonsyndromic genetic hearing loss
  • TMPRSS3 nonsyndromic genetic hearing loss
  • TMPRSS6 IRIDA syndrome
  • TNFRSF13B immunodeficiency, common variable, 2
  • TNFRSF9 immunodeficiency 109 with lymphoproliferation
  • TNFSF11 autosomal recessive osteopetrosis 2
  • TNNT1 nemaline myopathy 5
  • TNR neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
  • TOR1AIP1 TOR1AIP1-related multisystem disorder; TOR1AIP1-related myopathy
  • TP73 ciliary dyskinesia, primary, 47, and lissencephaly
  • TPK1 Leigh syndrome
  • TPP1 neuronal ceroid lipofuscinosis
  • TPP2 immunodeficiency 78 with autoimmunity and developmental delay
  • TPRN nonsyndromic genetic hearing loss
  • TRAF3IP1 ciliopathy
  • TRAPPC11 autosomal recessive limb-girdle muscular dystrophy
  • TRAPPC4 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
  • TRAPPC6B neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
  • TRAPPC9 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
  • TRIM32 autosomal recessive limb-girdle muscular dystrophy
  • TRIM63 hypertrophic cardiomyopathy
  • TRIOBP hearing loss, autosomal recessive
  • TRIP11 TRIP11-related skeletal dysplasia
  • TRIT1 mitochondrial disease
  • TRMT1 complex neurodevelopmental disorder
  • TRMT5 mitochondrial disease
  • TRMU mitochondrial disease; Leigh syndrome
  • TRNT1 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
  • TRPM1 TRPM1-related retinopathy
  • TSFM mitochondrial disease; Leigh syndrome
  • TTC12 ciliary dyskinesia, primary, 45
  • TTC19 Leigh syndrome; mitochondrial disease
  • TTC21B nephronophthisis 12
  • TTC7A multiple intestinal atresia
  • TTC8 TTC8-related ciliopathy
  • TTLL5 TTLL5-related retinopathy
  • TUBGCP6 microcephaly and chorioretinopathy 1
  • TUFM mitochondrial disease
  • TULP1 Leber congenital amaurosis 15
  • TULP3 ciliopathy
  • TUSC3 intellectual disability
  • TXNDC15 ciliopathy
  • TXNL4A choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
  • TYMP mitochondrial disease
  • TYR oculocutaneous albinism type 1
  • UBA5 genetic developmental and epileptic encephalopathy
  • UBE3B oculocerebrofacial syndrome, Kaufman type
  • UBR1 Johanson-Blizzard syndrome
  • UFM1 leukodystrophy, hypomyelinating, 14
  • UNC13D familial hemophagocytic lymphohistiocytosis 3
  • UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • UNG hyper-IgM syndrome type 5
  • UQCRC2 mitochondrial disease
  • UQCRFS1 mitochondrial disease
  • UROS cutaneous porphyria
  • USH1C Usher syndrome type 1
  • VARS1 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
  • VARS2 mitochondrial disease
  • VIPAS39 arthrogryposis, renal dysfunction, and cholestasis 2
  • VKORC1 vitamin K-dependent clotting factors, combined deficiency of, type 2
  • VLDLR cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • VPS11 VPS11-related neurological disorder
  • VPS33A mucopolysaccharidosis-plus syndrome
  • VPS33B arthrogryposis, renal dysfunction, and cholestasis 1
  • WARS2 mitochondrial disease
  • WDPCP ciliopathy
  • WDR19 ciliopathy
  • WDR35 cranioectodermal dysplasia 2; short-rib thoracic dysplasia 7 with or without polydactyly
  • WDR62 microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  • WDR72 amelogenesis imperfecta
  • WHRN Usher syndrome type 2D; nonsyndromic genetic hearing loss
  • WIPF1 Wiskott-Aldrich syndrome 2
  • WNK1 neuropathy, hereditary sensory and autonomic, type 2A
  • WRAP53 dyskeratosis congenita, autosomal recessive 3
  • WRN Werner syndrome
  • WWOX genetic developmental and epileptic encephalopathy
  • XPA xeroderma pigmentosum group A
  • XPC xeroderma pigmentosum group C
  • XPNPEP3 nephronophthisis-like nephropathy 1
  • YARS2 mitochondrial disease
  • YIF1B Kaya-Barakat-Masson syndrome
  • ZAP70 combined immunodeficiency due to ZAP70 deficiency
  • ZBTB11 syndromic complex neurodevelopmental disorder
  • ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome 2
  • ZMPSTE24 mandibuloacral dysplasia with type B lipodystrophy; obsolete lethal restrictive dermopathy
  • ZMYND10 primary ciliary dyskinesia 22
  • ZNF341 hyper-IgE recurrent infection syndrome 3, autosomal recessive
  • ZNF423 ciliopathy
  • ABCB7 mitochondrial disease · X-linked
  • ACSL4 non-syndromic X-linked intellectual disability · X-linked
  • AFF2 non-syndromic X-linked intellectual disability · X-linked
  • AIFM1 X-linked hereditary sensory and autonomic neuropathy with hearing loss; Leigh syndrome · X-linked
  • ALG13 genetic developmental and epileptic encephalopathy · X-linked
  • ANOS1 hypogonadotropic hypogonadism 1 with or without anosmia · X-linked
  • AP1S2 X-linked syndromic complex neurodevelopmental disorder · X-linked
  • AR Kennedy disease · X-linked
  • ARHGEF9 X-linked complex neurodevelopmental disorder · X-linked
  • ARSL X-linked chondrodysplasia punctata 1 · X-linked
  • ATP6AP1 congenital disorder of glycosylation type II · X-linked
  • ATP6AP2 ATP6AP2-related disorder · X-linked
  • ATP7A Menkes disease; X-linked distal spinal muscular atrophy type 3 · X-linked
  • ATRX ATR-X-related syndrome · X-linked
  • BGN Meester-Loeys syndrome · X-linked
  • BRWD3 X-linked syndromic intellectual disability · X-linked
  • BTK Bruton-type agammaglobulinemia · X-linked
  • CACNA1F CACNA1F-related retinopathy · X-linked
  • CCDC22 Ritscher-Schinzel syndrome 2 · X-linked
  • CD40LG hyper-IgM syndrome type 1 · X-linked
  • CHM choroideremia · X-linked
  • CLCN5 Dent disease type 1 · X-linked
  • CNKSR2 X-linked complex neurodevelopmental disorder · X-linked
  • CUL4B X-linked intellectual disability, Cabezas type · X-linked
  • DCX lissencephaly spectrum disorders · X-linked
  • DKC1 DKC1-related disorder; dyskeratosis congenita, X-linked · X-linked
  • DLG3 non-syndromic X-linked intellectual disability · X-linked
  • DNAAF6 ciliary dyskinesia, primary, 36, X-linked · X-linked
  • DOCK11 autoinflammatory disease, multisystem, with immune dysregulation, X-linked · X-linked
  • EIF2S3 MEHMO syndrome · X-linked
  • ELF4 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 · X-linked
  • F8 hemophilia A · X-linked
  • F9 hemophilia B · X-linked
  • FANCB Fanconi anemia complementation group B · X-linked
  • FGD1 Aarskog-Scott syndrome, X-linked · X-linked
  • FOXP3 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome · X-linked
  • FRMPD4 X-linked complex neurodevelopmental disorder · X-linked
  • FTSJ1 X-linked complex neurodevelopmental disorder · X-linked
  • GATA1 GATA1-Related X-Linked Cytopenia · X-linked
  • GDI1 non-syndromic X-linked intellectual disability · X-linked
  • GK inborn glycerol kinase deficiency · X-linked
  • GPC3 Simpson-Golabi-Behmel syndrome · X-linked
  • GPR143 GPR143-related foveal hypoplasia · X-linked
  • GRIA3 X-linked complex neurodevelopmental disorder · X-linked
  • HCFC1 X-linked intellectual disability · X-linked
  • HPRT1 Lesch-Nyhan syndrome · X-linked
  • HUWE1 non-syndromic X-linked intellectual disability · X-linked
  • IDS mucopolysaccharidosis type 2 · X-linked
  • IL1RAPL1 X-linked complex neurodevelopmental disorder · X-linked
  • IL2RG T-B+ severe combined immunodeficiency due to gamma chain deficiency · X-linked
  • IQSEC2 X-linked complex neurodevelopmental disorder · X-linked
  • KDM5C X-linked complex neurodevelopmental disorder · X-linked
  • L1CAM L1 syndrome · X-linked
  • MAGED2 Bartter disease type 5 · X-linked
  • MAGT1 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia · X-linked
  • MAOA Brunner syndrome · X-linked
  • MID1 X-linked Opitz G/BBB syndrome · X-linked
  • MSN combined immunodeficiency due to moesin deficiency · X-linked
  • MTM1 X-linked myotubular myopathy · X-linked
  • NDP Norrie disease · X-linked
  • NEXMIF X-linked complex neurodevelopmental disorder · X-linked
  • NONO X-linked syndromic intellectual disability · X-linked
  • OCRL oculocerebrorenal syndrome · X-linked
  • OPN1LW red color blindness · X-linked
  • OTUD5 multiple congenital anomalies-neurodevelopmental syndrome, X-linked · X-linked
  • PAK3 X-linked complex neurodevelopmental disorder · X-linked
  • PHF6 Borjeson-Forssman-Lehmann syndrome · X-linked
  • PHF8 syndromic X-linked intellectual disability Siderius type · X-linked
  • PHKA1 glycogen storage disease IXd · X-linked
  • POU3F4 nonsyndromic genetic hearing loss · X-linked
  • PQBP1 Renpenning syndrome · X-linked
  • PRPS1 PRPS1 deficiency disorder · X-linked
  • RAB39B early-onset parkinsonism-intellectual disability syndrome · X-linked
  • RBM10 TARP syndrome · X-linked
  • RP2 RP2-related retinopathy · X-linked
  • RPGR RPGR-related retinopathy · X-linked
  • RPL10 X-linked syndromic intellectual disability · X-linked
  • RS1 X-linked retinoschisis · X-linked
  • SASH3 combined immunodeficiency, X-linked · X-linked
  • SH2D1A X-linked lymphoproliferative disease due to SH2D1A deficiency · X-linked
  • SLC16A2 Allan-Herndon-Dudley syndrome · X-linked
  • SLC6A8 creatine transporter deficiency · X-linked
  • SLC9A6 Christianson syndrome · X-linked
  • SMPX nonsyndromic genetic hearing loss · X-linked
  • SMS syndromic X-linked intellectual disability Snyder type · X-linked
  • STEEP1 intellectual disability, X-linked 107 · X-linked
  • SYN1 X-linked complex neurodevelopmental disorder · X-linked
  • SYP non-syndromic X-linked intellectual disability · X-linked
  • TAFAZZIN Barth syndrome · X-linked
  • THOC2 X-linked complex neurodevelopmental disorder · X-linked
  • TIMM8A deafness dystonia syndrome · X-linked
  • TSPAN7 non-syndromic X-linked intellectual disability · X-linked
  • UBE2A syndromic X-linked intellectual disability Nascimento type · X-linked
  • UPF3B X-linked complex neurodevelopmental disorder · X-linked
  • USP27X X-linked complex neurodevelopmental disorder · X-linked
  • WAS Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia · X-linked
  • XIAP X-linked lymphoproliferative disease due to XIAP deficiency · X-linked
  • ZC4H2 X-linked syndromic intellectual disability · X-linked
  • ZDHHC9 syndromic X-linked intellectual disability Raymond type · X-linked
  • ZNF711 X-linked complex neurodevelopmental disorder · X-linked
  • ACTN2 Inherited cardiomyopathy (hypertrophic or dilated) · dominant, actionable
  • ALPK3 Familial hypertrophic cardiomyopathy · dominant, actionable
  • ATM Breast cancer susceptibility · dominant, actionable
  • BAP1 BAP1 tumour predisposition syndrome · dominant, actionable
  • BARD1 Hereditary breast cancer susceptibility · dominant, actionable
  • BMPR2 Heritable pulmonary arterial hypertension · dominant, actionable
  • BRIP1 Ovarian cancer susceptibility · dominant, actionable
  • CCM2 Cerebral cavernous malformations · dominant, actionable
  • CDC73 CDC73-related conditions (hyperparathyroidism-jaw tumour syndrome) · dominant, actionable
  • CDH1 Hereditary diffuse gastric cancer · dominant, actionable
  • CDKN1B Multiple endocrine neoplasia type 4 · dominant, actionable
  • CDKN2A Familial melanoma and pancreatic cancer syndrome · dominant, actionable
  • CHEK2 Breast cancer susceptibility · dominant, actionable
  • COL4A3 Alport syndrome · dominant, actionable
  • COL4A4 Alport syndrome · dominant, actionable
  • COL5A1 Classic Ehlers-Danlos syndrome · dominant, actionable
  • COL5A2 Classic Ehlers-Danlos syndrome · dominant, actionable
  • CSRP3 Inherited cardiomyopathy (hypertrophic or dilated) · dominant, actionable
  • DICER1 DICER1-related tumour predisposition · dominant, actionable
  • DNAJB11 Autosomal dominant polycystic kidney disease · dominant, actionable
  • DNM2 DNM2-related Charcot-Marie-Tooth neuropathy · dominant, actionable
  • EGR2 Charcot-Marie-Tooth disease type 1 · dominant, actionable
  • F11 Factor XI deficiency · dominant, actionable
  • FH Hereditary leiomyomatosis and renal cell cancer · dominant, actionable
  • FHOD3 Familial hypertrophic cardiomyopathy · dominant, actionable
  • FLCN Birt-Hogg-Dubé syndrome · dominant, actionable
  • GANAB Autosomal dominant polycystic kidney disease · dominant, actionable
  • GCH1 GCH1-associated dopa-responsive dystonia · dominant, actionable
  • HMBS Acute intermittent porphyria · dominant, actionable
  • HNF1B Renal cysts and diabetes syndrome · dominant, actionable
  • HNF4A Maturity-onset diabetes of the young (HNF4A) · dominant, actionable
  • LITAF Charcot-Marie-Tooth disease type 1 · dominant, actionable
  • LOX Familial thoracic aortic aneurysm and dissection · dominant, actionable
  • MET Hereditary papillary renal cell carcinoma · dominant, actionable
  • MPZ Charcot-Marie-Tooth disease type 1 · dominant, actionable
  • NEFL Charcot-Marie-Tooth disease type 1 · dominant, actionable
  • NF1 Neurofibromatosis type 1 · dominant, actionable
  • NOTCH3 CADASIL (cerebral arteriopathy, autosomal dominant) · dominant, actionable
  • PKD2 Autosomal dominant polycystic kidney disease · dominant, actionable
  • PMP22 Charcot-Marie-Tooth disease type 1 / hereditary neuropathy with liability to pressure palsies · dominant, actionable
  • POLD1 POLE/POLD1-associated colorectal cancer susceptibility · dominant, actionable
  • POLE POLE/POLD1-associated colorectal cancer susceptibility · dominant, actionable
  • PRKAR1A Carney complex · dominant, actionable
  • PRKG1 Familial thoracic aortic aneurysm and dissection · dominant, actionable
  • PROC Thrombophilia due to protein C deficiency · dominant, actionable
  • PROS1 Thrombophilia due to protein S deficiency · dominant, actionable
  • PTCH1 Basal cell nevus syndrome (Gorlin syndrome) · dominant, actionable
  • RAD51C Ovarian cancer susceptibility · dominant, actionable
  • RAD51D Ovarian cancer susceptibility · dominant, actionable
  • SDHA Hereditary paraganglioma-pheochromocytoma · dominant, actionable
  • TGFB2 Loeys-Dietz syndrome · dominant, actionable
  • VWF Von Willebrand disease · dominant, actionable

Pharmacogenomics

9 items examined

Restated from CPIC guidelines

How your genotype may affect specific medicines, restated from CPIC. On a chip, only the genes whose defining SNPs your array both typed and could resolve; DPYD needs a sequenced file (VCF/gVCF) or Deep Read.

  • ABCG2
  • CYP2C19
  • CYP2C9
  • CYP4F2
  • DPYD
  • HLA-B
  • NUDT15
  • SLCO1B1
  • VKORC1

Single-gene reads

6 items examined

Restated from ClinVar · peer-reviewed literature

  • APOE Alzheimer's-risk ε-genotype (hidden until you choose to see it)
  • Lp(a) Lipoprotein(a) cardiovascular-risk level
  • HFE Hereditary haemochromatosis (iron overload)
  • ABO ABO blood group, not a blood test
  • APOL1 APOL1 kidney-risk variants
  • Celiac HLA DQ2.5 / DQ8 types: a rule-out read, not a risk score

Traits

28 items examined

Restated from NHGRI-EBI GWAS Catalog

Benign, well-replicated traits that clear a strict evidence gate.

  • Alcohol flush response
  • Alcohol metabolism speed (ADH1B)
  • Asparagus urine smell detection
  • Bitter taste sensitivity (TAS2R38)
  • Caffeine metabolism
  • Chronotype (morning vs evening tendency)
  • Chronotype, RGS16 marker
  • Cilantro (coriander) soapy taste
  • Coffee consumption tendency (AHR)
  • Duffy blood-group antigen (malaria resistance & neutrophil baseline)
  • Attached or free earlobes (ADGRG6)
  • Earwax type & body odour
  • Eye colour (blue vs brown)
  • Freckling tendency (IRF4)
  • FUT2 secretor status (norovirus resistance, gut microbiome, B12)
  • Hair colour shade (KITLG)
  • Hair thickness & shape
  • Straight vs curly hair (TCHH)
  • Lactase persistence
  • Androgenetic hair thinning tendency (TWIST2)
  • Muscle fibre type (ACTN3)
  • Omega fatty acid desaturation (FADS1)
  • Photic sneeze reflex (ACHOO)
  • Red hair and fair skin tendency (MC1R)
  • Sleep duration (PAX8)
  • Tan or burn: tanning response (SLC45A2)
  • Vitamin B12 tendency (FUT2)
  • Vitamin D tendency (GC / VDBP)

Polygenic risk scores

17 items examined

Restated from PGS Catalog

A tendency across many variants and a percentile against a reference group, never a personal probability of disease. Hidden until you choose to see it.

  • Abdominal aortic aneurysm
  • Atrial fibrillation
  • Bladder cancer
  • Breast cancer
  • Coronary artery disease
  • Colorectal cancer
  • Gout (serum-urate score)
  • Kidney cancer
  • LDL cholesterol (polygenic score)
  • Melanoma
  • Pancreatic cancer
  • Prostate cancer
  • Stroke
  • Type 2 diabetes
  • Testicular cancer
  • Thyroid cancer
  • Venous thromboembolism

Deep ancestry

2 items examined

Restated from PhyloTree

One thread of your tree per line, as global haplogroups, never a “percent ancestry” pie.

  • Maternal line, mtDNA haplogroup 30 clade families
  • Paternal line, Y-DNA haplogroup 14 clade families

Frontier

60 items examined

Restated from GWAS Catalog · emerging research

Exploratory; each reading labelled by how much evidence backs it. Walled off from the clinical report, for curiosity, never medical.

  • Endurance vs power: the ACE 'sport gene'
  • ACTN3: fast-twitch 'sports gene' (sprint/power vs endurance)
  • ADORA2A: caffeine sensitivity & sleep
  • Alcohol flush: acetaldehyde clearance (ALDH2)
  • Alcohol metabolism speed (ADH1B)
  • Macular degeneration: the ARMS2 A69S variant
  • Macular degeneration: the CFH Y402H variant
  • BDNF: Val66Met, learning & neuroplasticity
  • Beta-carotene converter status (BCO1)
  • Risk-taking & processing speed (CADM2)
  • Caffeine metabolism: fast or slow (CYP1A2)
  • Cannabis use disorder: CHRNA2
  • Joint cartilage and osteoarthritis: a GDF5 promoter variant
  • CCR5Δ32: the HIV-resistance deletion (read via a proxy SNP)
  • CLOCK: chronotype (morningness / eveningness)
  • Tendon stiffness & flexibility (COL5A1)
  • COMT: dopamine clearance and the 'warrior / worrier' story
  • Night-owl family variant: CRY1
  • DRD2 / ANKK1: Taq1A, dopamine reward signalling
  • Novelty-seeking, the contested version (DRD4)
  • Anandamide tone (FAAH)
  • Omega-3/6 conversion efficiency (FADS1)
  • Stress-axis regulation, contested (FKBP5)
  • FTO: appetite & body-weight set-point
  • Blood glutamine and the liver glutaminase (GLS2)
  • IGF2BP2: a lead type 2 diabetes marker
  • The IL-6 receptor trade-off: heart versus allergy (IL6R)
  • Iron levels and the hepcidin brake (TMPRSS6)
  • Lifelong lower LDL: the R46L variant (PCSK9)
  • Liver fat: the I148M variant (PNPLA3)
  • HSD17B13: a protective liver variant (read via a proxy SNP)
  • Liver fat versus blood fat: the E167K variant (TM6SF2)
  • HDL & longevity curio (CETP I405V)
  • Longevity-associated FOXO3 variant
  • Klotho KL-VS: heterozygote-advantage curio
  • Manganese and many traits: the SLC39A8 A391T variant
  • The 'warrior gene' myth (MAOA)
  • Restless legs and broken sleep: MEIS1
  • KIBRA memory-performance variant (WWC1)
  • MTHFR: C677T, the most over-hyped variant in consumer genetics
  • Glucose & melatonin crossover (MTNR1B)
  • Blood myo-inositol and a kidney transporter (SLC5A11)
  • Nicotine dependence signal (CHRNA5)
  • Nicotine clearance: CYP2A6
  • Mu-opioid receptor variant (OPRM1 A118G)
  • OXTR: rs53576, the oxytocin receptor & social behaviour
  • Early-bird family variant: PER3
  • PPARGC1A: Gly482Ser, endurance & mitochondria
  • Secretor status: norovirus and B12 (FUT2)
  • Natural short sleeper: ADRB1
  • Natural short sleeper: DEC2 (BHLHE41)
  • Serotonin transporter (5-HTTLPR): the famous null
  • Glucose handling: the strongest common T2D variant (TCF7L2)
  • Telomere length: the TERC region
  • Triglycerides up, blood sugar down: the GCKR seesaw
  • Uric acid levels: the kidney's urate transporter (SLC2A9)
  • Vitamin B6 levels (ALPL)
  • Vitamin-D tendency: activation enzyme (CYP2R1)
  • Vitamin-D tendency: binding protein (GC)
  • Zinc in insulin cells: the ZnT8 variant (SLC30A8)

Emerging scores

9 items examined

Restated from PGS Catalog · emerging research

Polygenic scores for traits that can be measured directly. Labelled emerging research and kept apart from the disease scores: they are newer and less tested, and a measurement of the trait says more about you than its score does.

  • Body mass index (BMI)
  • Chronotype (morning or evening type)
  • Kidney filtering (eGFR)
  • Height
  • Insomnia symptoms
  • Eye pressure (intraocular pressure)
  • Loneliness
  • Lung function (FEV1/FVC)
  • Systolic blood pressure

The Fringe

32 items examined

Restated from GWAS · speculative

The popular, playful gene-quirks, the deepest end of the firewall. For fun only.

  • Androstenone: sweaty, sweet or nothing at all? (OR7D4)
  • Asparagus pee: can you smell it? (OR2M7 cluster)
  • Clapping in time with a beat (VRK2)
  • Bitter taste: PTC taster or not (TAS2R38)
  • Blond vs darker hair (KITLG)
  • Cilantro tastes like soap (OR6A2)
  • Putting a name to the smell of cinnamon (near OR52D1)
  • Wet or dry earwax (ABCC11)
  • Blue or brown eyes (HERC2)
  • Can you taste fat? (CD36)
  • How fishy a fish smell seems (TAAR5)
  • Freckles & premature greying (IRF4)
  • Smell of cut grass: cis-3-hexen-1-ol (OR2J3)
  • Sweaty feet and ripe cheese: isovaleric acid (OR11H7)
  • How strongly you smell licorice (OR6C70)
  • Rage at chewing sounds: misophonia (TENM2)
  • Mosquito magnet? Self-reported bites (IL21 region)
  • Motion sickness (carsick / seasick tendency)
  • Can you smell laundry musk? Galaxolide (OR4D6)
  • Sun sneeze: the ACHOO reflex (near ZEB2)
  • How bitter is tonic water? Quinine taste (TAS2R19)
  • Red hair & freckling (MC1R R151C)
  • Chili-heat sensitivity (TRPV1)
  • How sweet is sweet? Sucrose sensitivity (TAS1R3)
  • Sweet tooth (FGF21 'sugar hormone')
  • Tongue taste-bud density: gustin (CA6)
  • Hair thickness and shovel-shaped teeth (EDAR)
  • Fraternal twins in the family (FSHB)
  • Umami (savory) taste sensitivity (TAS1R1)
  • How strongly you smell body odour's signature acid (OR51B2)
  • Eyebrow convergence: the 'unibrow' nudge (PAX3)
  • Can you smell violets? Beta-ionone (OR5A1)

Deep Read: pharmacogenes from your aligned reads Deep Read add-on

29 items examined

Restated from CPIC · PyPGx (from your aligned reads)

Resolved from aligned reads (BAM/CRAM), including CYP2D6 star-alleles a variant file can't call, with a measured per-gene callability map.

  • ABCB1
  • ABCG2
  • ALDH2
  • BCHE
  • CACNA1S
  • CYP1A2
  • CYP2B6
  • CYP2C19
  • CYP2C8
  • CYP2C9
  • CYP2C_rs12777823
  • CYP2D6
  • CYP3A4
  • CYP3A5
  • CYP4F2
  • DPYD
  • F2
  • F5
  • G6PD
  • GRIK4
  • IFNL3
  • MTHFR
  • NAT2
  • NFIB
  • NUDT15
  • SLCO1B1
  • TPMT
  • UGT1A1
  • VKORC1

Recurrent deletion calls Deep Read add-on

2 items examined

Restated from ClinVar · read depth (mosdepth)

Whole-gene and multi-exon deletions, called by comparing read depth against a baseline rather than by reading genotypes. A variant file cannot deliver these: a deletion shows up there as an absence of calls, which is indistinguishable from a region that simply was not read. Needs aligned reads (BAM/CRAM).

  • TYROBP Nasu-Hakola disease (PLOSL)
  • CLN3 Juvenile neuronal ceroid lipofuscinosis (CLN3 / Batten disease)

Prüfen, was Ihre eigene Datei zeigen kann →

Die finnische Lesart

Finnland ist ein genetisches Isolat, und das verändert zwei verschiedene Dinge an einer Neuauswertung. Es lohnt sich, sie auseinanderzuhalten, denn wer sie vermischt, verspricht mehr, als wir leisten.

Welche Erkrankungen untersuchen wir?

26 der 60 Erkrankungen im Trägerscreening des Panels sind Gründererkrankungen aus dem finnischen Krankheitserbe (Finnish Disease Heritage): rezessive Erkrankungen, die weltweit selten, in Finnland aber gehäuft sind, weil eine kleine Gründerpopulation sie weitergegeben hat. Diese Erkrankungen stehen für alle auf dem Panel, unabhängig von Ihrer Herkunft. Das Panel ändert sich nicht von Kunde zu Kunde; es wurde in dem Wissen ausgewählt, wer die Berichte voraussichtlich liest.

AGA · AIRE · BCS1L · CLN5 · CLN8 · CLRN1 · CUBN · GLE1 · HYLS1 · KERA · LCT · MKS1 · NPHS1 · OAT · POMGNT1 · PPT1 · RECQL4 · RMRP · SLC17A5 · SLC26A2 · SLC26A3 · SLC7A7 · TRIM37 · TWNK · VPS13B · ZNHIT3

Das Panel liest außerdem XXYLT1 retinal dystrophy (XXYLT1): eine finnische Gründervariante, die erst so kürzlich entdeckt wurde, dass sie weder auf der Liste des finnischen Krankheitserbes noch in ClinVar steht. Wir berichten sie anhand ihrer veröffentlichten Studie und kennzeichnen sie entsprechend.

Häufigkeit, je nach Population

Wie selten eine Variante ist, kann die nützlichste Zahl an einem Ergebnis sein, und „selten“ bedeutet nichts, solange niemand sagt, unter wem. Sie wählen die Bezugspopulation: Global, Finnish, European, Ashkenazi Jewish. Ergebnisse zeigen dann die Häufigkeit in dieser Population neben der weltweiten, sodass eine Variante, die weltweit unauffällig und in Finnland häufig ist, als das erscheint, was sie ist.

Die Bezugspopulation dient nur der Anzeige. Diese Wahl ändert nie, wie eine Variante klassifiziert wird: Die Klassifizierung nutzt immer die weltweite Häufigkeit, ein Wechsel der Bezugspopulation kann also kein gutartiges Ergebnis in ein beunruhigendes verwandeln oder umgekehrt. Wir speichern die Werte für 10 Populationen, deshalb lassen sich weitere hinzufügen, ohne Ihre Datei neu auszuwerten.

Wo es einen veröffentlichten Wert für die finnische Bevölkerung gibt, steht er auf der Karte: Für 9 Erkrankungen gibt es heute einen, jeweils mit der Quelle, aus der er stammt, und einer Angabe, wie belastbar diese Quelle ist. Eine Erkrankung ohne belastbaren finnischen Wert bekommt keinen Wert, statt einen fremden zu übernehmen.

Datensatz zur finnischen Prävalenz vom 27. Juli 2026. Die Häufigkeiten stammen aus gnomAD. Populationsdaten beschreiben Gruppen, nie Sie persönlich: Eine Häufigkeit ist Kontext zum Lesen eines Ergebnisses, kein Ergebnis über Ihre Herkunft.