| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ENAM, LOC123477761 +360 more | Copy number loss | Piebaldism | |
| | LOC129992618, LOC129992619 +143 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (Y189S) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (R200W) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (W201*) | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | SRD5A3, SRD5A3-AS1 (L205F) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (G206V) | Single nucleotide variant (missense variant) | not provided | |
| | SRD5A3, SRD5A3-AS1 (M209I) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (I211M) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (H216fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | SRD5A3, SRD5A3-AS1 (G225S) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | SRD5A3, SRD5A3-AS1 (K229R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SRD5A3, SRD5A3-AS1 (A232E) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (splice donor variant +1 more) | SRD5A3-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (splice acceptor variant) | Abnormality of the nervous system | |
| | | Single nucleotide variant (synonymous variant) | SRD5A3-related disorder | |
| | SRD5A3-AS1, SRD5A3 (F248L) | Single nucleotide variant (missense variant) | not provided | |
| | SRD5A3, SRD5A3-AS1 (V206L +1 more) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (S208F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (V268I) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (F225L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SRD5A3, SRD5A3-AS1 (N274S) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (L275F) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (V284G) | Single nucleotide variant (missense variant) | not provided | |
| | SRD5A3, SRD5A3-AS1 (L290P) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | SRD5A3, SRD5A3-AS1 (V304A) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (P307L) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | SRD5A3-AS1, SRD5A3 (H309D) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (A312P) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (P270S +1 more) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | SRD5A3, SRD5A3-AS1 (F318fs) | Deletion (frameshift variant) | Generalized hypotonia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | | Microsatellite (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Microsatellite (3 prime UTR variant) | Congenital disorder of glycosylation | |
| | | Deletion (3 prime UTR variant) | Congenital disorder of glycosylation | |
| | | Microsatellite (3 prime UTR variant) | Congenital disorder of glycosylation | |
| | | Microsatellite (3 prime UTR variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A3-congenital disorder of glycosylation +1 more | |