| | | Copy number loss | See cases | |
| | LOC129995052, LOC129995053 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKHD1, ANKHD1-DT +377 more | Copy number loss | See cases | |
| | PCDHA5, PCDHA1 +5 more (A39D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA5 +5 more (K40T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA@ +5 more (V60M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (D91H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA@, PCDHA1 +5 more (V108M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA@, PCDHA6 +5 more (D111E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA5 +5 more (V116F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA3 +5 more (P134R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA@, PCDHA1 +5 more (V162F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA6, PCDHA@ +5 more (I192T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (D234G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA3, PCDHA5 +5 more (I251T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA2 +5 more (I251M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA6 +5 more (T260A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (A286E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA@, PCDHA5 +5 more (N298I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA6, PCDHA1 +5 more (M330K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA3, PCDHA4 +5 more (S354F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (R360L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (L371R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA@, PCDHA1 +5 more (Q384L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA5, PCDHA@ +5 more (L441F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (N451S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (V464M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA6, PCDHA3 +5 more (C472R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (V510M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA5, PCDHA2 +5 more (A512T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (A562E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA3, PCDHA1 +5 more (R569Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA1, PCDHA2 +5 more (Q589K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA3 +5 more (A592G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (V594M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA6, PCDHA@ +5 more (R595H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (A599V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA5, PCDHA1 +5 more (G602S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA2 +5 more (W606C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA3 +5 more (R619C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA5, PCDHA3 +5 more (A658V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA5 +5 more (T664M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (G673D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (S680T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA5 +5 more (N697S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (S724W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA6 +5 more (E729K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA3, PCDHA@ +5 more (M770L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +5 more (A786V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHA5, PCDHA3 +6 more (V2M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (R92S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA7, PCDHA4 +6 more (L95V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (E111V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA4 +6 more (P191L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA1, PCDHA2 +6 more (I289M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (P319S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA1 +6 more (L352V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA@ +6 more (V368F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA6, PCDHA5 +6 more (F379L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA@, PCDHA4 +6 more (K396N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA@ +6 more (W436R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (V462M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (C472R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHA1, PCDHA2 +6 more (C472S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (G480R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA3, PCDHA5 +6 more (V499L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA5 +6 more (G500S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA7 +6 more (E501D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA1, PCDHA2 +6 more (D557E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (P563L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA6 +6 more (A567E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA@, PCDHA3 +6 more (G571S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA6 +6 more (E579D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA3, PCDHA2 +6 more (L580P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA2, PCDHA7 +6 more (A587V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA7, PCDHA6 +6 more (A587E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (A642T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA5, PCDHA7 +6 more (L659V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA3 +6 more (S679W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA4, PCDHA7 +6 more (S680W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA@, PCDHA4 +6 more (A682V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +6 more (E692V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA7, PCDHA2 +6 more (G730D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA6, PCDHA3 +6 more (C732R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA3, PCDHA5 +6 more (V735L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA6, PCDHA7 +6 more (C759G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA7, PCDHA5 +6 more (S782C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +7 more (D2N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHA1, PCDHA7 +7 more (L19P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +7 more (H41Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +7 more (A57E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHA1, PCDHA2 +7 more (R72G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |