| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 4 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 10 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | MTOR-AS1, MTOR (T1160S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive spastic paraplegia type 78 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive spastic paraplegia type 78 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive early-onset Parkinson disease 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Schwartz-Jampel syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lethal Kniest-like syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LDLRAP1, LOC129929773 (G24fs) | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Hypercholesterolemia, familial, 4 +1 more | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Severe combined immunodeficiency due to CTPS1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Familial adenomatous polyposis 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypobetalipoproteinemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Type II complement component 8 deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Hypertrophic cardiomyopathy 20 +2 more | |
| | | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1CC +1 more | |
| | | Single nucleotide variant (nonsense) | Hypertrophic cardiomyopathy 20 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Hypertrophic cardiomyopathy 20 +2 more | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +1 more | |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease type III +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease type III +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | AP4B1-AS1, PTPN22 (S669T +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Catecholaminergic polymorphic ventricular tachycardia 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Kostmann syndrome +2 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R535H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type III +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type III +14 more | |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Parkinson disease +12 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GBA1, LOC106627981 (F255Y +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R209C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +5 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R115* +2 more) | Single nucleotide variant (nonsense) | GBA1-related disorder +9 more | GPathogenic/Likely pathogenic |