| | TFAP2E, TFAP2E-AS1 (M177L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 2 +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Lynch syndrome 5 +1 more | |
| | | Single nucleotide variant (nonsense) | ZAP70-Related Severe Combined Immunodeficiency | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC107303340, VHL (R177* +1 more) | Single nucleotide variant (nonsense +1 more) | Von Hippel-Lindau syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense +2 more) | Bardet-Biedl syndrome 17 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | CAPSL, LOC129993795 (T177S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC107648851, TAP2 (I177F) | Single nucleotide variant (missense variant) | MHC class I deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Catecholaminergic polymorphic ventricular tachycardia 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +3 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia 6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Pyruvate dehydrogenase E3 deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1DD +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Palmoplantar keratoderma, Bothnian type | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | GALNT4, POC1B
+1 more (S174C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital stromal corneal dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (nonsense) | Spinocerebellar ataxia 27A +1 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ACTC1, GJD2-DT (I132F +2 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1R +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Isovaleryl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862278, RBFOX1 (R154* +6 more) | Single nucleotide variant (nonsense) | Idiopathic generalized epilepsy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Classic homocystinuria | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Familial cancer of breast +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial focal epilepsy with variable foci | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Siderius type | |
| | | Single nucleotide variant (nonsense +1 more) | Rett syndrome | |