| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | PCDHG@, PCDHGA1 +10 more (E94K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (V109A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (T130M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (P148T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (P240L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S243N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (V255M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (Y256C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (E271K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (V273G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHG@, PCDHGA1 +10 more (A275D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S280P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (I315T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D321G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (I326T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (V331L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (I336T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (Q348R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (M355I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (E356G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D357G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G361V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D371E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S374F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (L408V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (N413D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S432A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (Q452R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (V457F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (E461D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D478E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G480R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G480V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (Y487C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (I489S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | PCDHG@, PCDHGA1 +10 more (S501C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (Y502S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G510R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (F513L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (A514T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D519Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (R547C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D551G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (N554S) | Single nucleotide variant (intron variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (L561Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D568N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (H578R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G613A) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHG@, PCDHGA1 +10 more (E623Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHGB3, PCDHGB4 +10 more (R639S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (R645C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G648E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (P650S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (A654T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (A654D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D678H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (I697L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (A708S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (A710V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (R712C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (R712H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S749F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (H756N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (C779R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G780S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D781N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (E794Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (S6N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (G11R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (L13M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (C17Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (D55N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (D55G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (S68T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (G82R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (E94K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (Q98P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (L109Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (V110I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (E120D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (D125N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (D128G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (P148A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (P148S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (H176Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (D181N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (D201H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (A214T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (P220L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (R222H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (H229Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (T231P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +11 more (T235A) | Single nucleotide variant (missense variant +1 more) | not specified | |