| | | Copy number loss | See cases | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKHD1, ANKHD1-DT +377 more | Copy number loss | See cases | |
| | PCDHA1, PCDHA2 +1 more (W24R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (R32P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (G42C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (L56M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (G72R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (S103G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (H105Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V110A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V123A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (D125V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (N127K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (M135V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (K138R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (I140L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (I140M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHA1, PCDHA2 +1 more (R141W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (R141G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (F177Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (D181V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (N209K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (D216V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (L229R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (A243T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (N254S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V262F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (I277T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (G306E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (E312K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (S337*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | PCDHA1, PCDHA2 +1 more (V341G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA@, PCDHA1 +1 more (D342V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (A370V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (T373S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (T381K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V393I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (G431V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (E444Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (D450E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (A454V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V477E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V495M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (R502C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V510M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (G515S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (Y518H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V535L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (Q552P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (A576S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (L580V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (G588R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (H589N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (P621L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA1, PCDHA2 +1 more (R623H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (T660I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (S679T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V684M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (A686T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (A687S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (E690D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V694M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHA1, PCDHA2 +1 more (D695E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA2, PCDHA1 +1 more (I702L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (I702V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (V707A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (R732L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (A733E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (S751L) | Single nucleotide variant (missense variant +1 more) | PCDHA2-related disorder | |
| | PCDHA1, PCDHA2 +1 more (E762K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (P765T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (D781V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +1 more (E784V) | Single nucleotide variant (intron variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (D8N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (A11G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (Q30R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (K40R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (P61Q) | Single nucleotide variant (missense variant +1 more) | PCDHA3-related disorder | |
| | PCDHA1, PCDHA2 +2 more (R62L) | Single nucleotide variant (missense variant +1 more) | PCDHA3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PCDHA3-related disorder | |
| | PCDHA1, PCDHA2 +2 more (E101D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | PCDHA3-related disorder | |
| | PCDHA1, PCDHA2 +2 more (Q115L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (V119G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (P131S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | PCDHA3-related disorder | |
| | PCDHA1, PCDHA2 +2 more (E176fs) | Deletion (frameshift variant +1 more) | PCDHA3-related disorder | |
| | PCDHA1, PCDHA2 +2 more (L192V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (L192P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (V195L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (R202L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (D216E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (G218R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | PCDHA3-related disorder | |
| | PCDHA1, PCDHA2 +2 more (L251S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (V261A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA2 +2 more (V264F) | Single nucleotide variant (missense variant +1 more) | not specified | |