| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (Q5K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (K6Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (H9R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (V14I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (V14A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (S68Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (E120G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (R132S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (I142T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (Y170H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (A171P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (V211I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (G218V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (I228M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (T265A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (T297K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (V335I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (D342N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (S354G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (A380S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (A380T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (L386F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHGA2, PCDHG@ +1 more (T406P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (L410F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (A449V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (R454C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (I461V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (H477R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (N482D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (S502C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (Y504F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (R518C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (Q524H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (W531R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (S543N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (V546I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (S549N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +1 more (V552L) | Single nucleotide variant (missense variant +1 more) | not specified | |