| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | AADACL3, AADACL4 +804 more | Copy number loss | See cases | |
| | LOC129929300, LOC129929301 +730 more | Copy number loss | See cases | |
| | LOC129929515, LOC129929516 +211 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Teratoma | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (R1037H +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (T1079I +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARHGEF10L (R1088Q +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (D1102G +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (H1109Q +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (R1137H +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (L1144I +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (D1216N +4 more) | Single nucleotide variant (missense variant +1 more) | Cerebral visual impairment and intellectual disability | |
| | ARHGEF10L (R1183C +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ARHGEF10L (R1010C +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (R1010H +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (E1195G +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (A1209T +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARHGEF10L (P1218L +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 1p36 deletion syndrome | |
| | AADACL3, AADACL4 +143 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 1p36.1 deletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |
| | C1orf159, C1orf167 +314 more | Complex | Breast ductal adenocarcinoma | |