| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Inversion (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Microsatellite (frameshift variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Deletion (frameshift variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | H syndrome | |
| | | Duplication (frameshift variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Deletion (frameshift variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | SLC29A3-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | H syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | SLC29A3-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Microsatellite (inframe_deletion +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | H syndrome | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Deletion (frameshift variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | H syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | H syndrome | |
| | | Single nucleotide variant (splice donor variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Deletion (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | H syndrome | |
| | | Single nucleotide variant (intron variant) | SLC29A3-related condition +1 more | |
| | | Duplication (inframe_insertion) | H syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | H syndrome | |
| | | Deletion (nonsense) | H syndrome | |