| | PCDHA1, PCDHA10 +14 more (L32F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (I642V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (D302E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (N762S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (G818R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (N810D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (A675T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (R237L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (I105T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (A736T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (R699Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (G66R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (T505I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (Q43H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | PCDHA13-related disorder | |
| | | Deletion (intron variant) | PCDHA13-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHA1, PCDHA10 +14 more (A736E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (S528G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (R733C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (Q259R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (R431Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (T450I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (R751K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (V680L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA7, PCDHA8 +14 more (G738C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (S530T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (V356G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (V136M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (K399Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (V635A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (P271S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (R398Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (T228A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (I704T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHA1, PCDHA10 +14 more (N463D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | PCDHA1, PCDHA10 +15 more (D571E +10 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | PCDHAC1, PCDHAC2 +15 more (P576R +10 more) | Single nucleotide variant (missense variant) | PCDHA9-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | PCDHA1, PCDHA10 +15 more (R543H +10 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANKHD1, ANKHD1-DT +377 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |