| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ANKS6, LOC124310614 (R656C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ANKS6, LOC124310614 (R648Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | ANKS6-related condition | |
| | | Single nucleotide variant (synonymous variant) | ANKS6-related condition | |
| | | Single nucleotide variant (synonymous variant) | ANKS6-related condition | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | ANKS6-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Duplication (frameshift variant) | Nephronophthisis 16 | |
| | | Deletion (frameshift variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Duplication (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 +1 more | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | ANKS6, LOC124310614 (S634L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication | ALG2-congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Nephronophthisis 16 | |
| | | Deletion (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 16 | |
| | ANKS6, LOC124310614 (S647N) | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 16 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 16 | |