| | | Single nucleotide variant (missense variant) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more | |
| | LOC126805576, AGRN (H128Q) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Idiopathic generalized epilepsy +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder, complementation group 7 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 4 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Senior-Loken syndrome 4 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Senior-Loken syndrome 4 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |