| | LOC130006596, LOC130006597 +387 more | Copy number loss | See cases | |
| | LOC130006930, LOC130006931 +1199 more | 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 +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | LOC130006704, POGLUT3 (Y51C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (R48H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (W35S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (R31Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (A29S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (P23R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (A22T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (L16M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006704, POGLUT3 (R3C) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Ataxia-telangiectasia syndrome | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | Deficiency of acetyl-CoA acetyltransferase +1 more | |
| | | Copy number loss | not provided | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |