| | ADGRB3, ADGRB3-DT +310 more | Copy number loss | See cases | |
| | KCNQ5, KCNQ5-DT +1 more (M1T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (R3del) | Deletion (inframe_deletion) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (R3S) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | KCNQ5, KCNQ5-DT +1 more (R3L) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | KCNQ5, KCNQ5-DT +1 more (H5R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (H5Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G7R) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G8R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | KCNQ5, KCNQ5-DT +1 more (G8E) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (A13T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996711, KCNQ5 +1 more (A14V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G15R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5-DT, LOC129996711 +1 more (W17R) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 46 | |
| | KCNQ5, KCNQ5-DT +1 more (W17*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC129996711, KCNQ5 +1 more (W17C) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G21C) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (A22S) | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_insertion) | Intellectual disability, autosomal dominant 46 +1 more | GConflicting classifications of pathogenicity |
| | KCNQ5, KCNQ5-DT +1 more (A26T) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (A27fs) | Deletion (frameshift variant) | Inborn genetic diseases +1 more | |
| | KCNQ5, KCNQ5-DT +1 more (G28R) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G29fs) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G29R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNQ5, KCNQ5-DT +1 more (G29W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G30E) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (M36L) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (M36K) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (V39A) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (G42S) | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 46 +1 more | |
| | KCNQ5, KCNQ5-DT +1 more (R43G) | Single nucleotide variant (missense variant) | not provided | |
| | KCNQ5, KCNQ5-DT +1 more (R43P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 (synonymous variant) | not provided | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Intellectual disability, autosomal dominant 46 +1 more | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | KCNQ5-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 46 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |