| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932646, LOC129932647 +967 more | Copy number gain | See cases | |
| | LOC129932948, LOC129932949 +954 more | Copy number gain | See cases | |
| | LOC129932666, LOC129932667 +954 more | Copy number gain | See cases | |
| | LOC128772241, LOC128772242 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932613, LOC129932614 +949 more | Copy number gain | See cases | |
| | LOC129932859, LOC129932860 +869 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932775, LOC129932776 +655 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ARV1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | ARV1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 38 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARV1, LOC129932761 (H50fs) | Deletion (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Inversion (splice acceptor variant) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 38 | |
| | | 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) | Inborn genetic diseases | |
| | | Deletion (splice donor variant) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (splice donor variant) | ARV1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ARV1-related disorder +1 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 38 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Insertion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ARV1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system | |
| | | Microsatellite (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | 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) | See cases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 38 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 38 | |
| | | 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) | 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 (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Congenital disorder of glycosylation, type IIq | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Actin accumulation myopathy | |
| | | Duplication | Gastrointestinal stromal tumor +2 more | |
| | | Copy number gain | See cases | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Translocation | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |