| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935966, LOC129935967 +630 more | Copy number gain | See cases | |
| | LOC126806558, LOC126806559 +309 more | Copy number gain | See cases | |
| | LOC132088828, LOC132088829 +576 more | Copy number gain | See cases | |
| | LOC126806547, LOC129389006 +16 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (Q326E +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (R323fs +2 more) | Deletion (frameshift variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | GPathogenic/Likely pathogenic |
| | SP110, SP140 (R322Q +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP140, SP110 (R322* +2 more) | Single nucleotide variant (nonsense) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (S369T +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (P368A +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (T367M +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (S370Y +2 more) | Indel (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (S364P +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (S356* +2 more) | Single nucleotide variant (nonsense) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (S356L +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP140, SP110 (I302V +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more | |
| | SP110, SP140 (I301T +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Duplication (inframe_insertion +1 more) | Mycobacterium tuberculosis, susceptibility to +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (S346L +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (R344Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | SP110, SP140 (R344P +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (R344* +1 more) | Single nucleotide variant (nonsense +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (E341D +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | SP110, SP140 (T346I +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (T336M +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP140, SP110 (V324L +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (V315fs +1 more) | Deletion (frameshift variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K313R +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (L312V +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K311N +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K310T +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (S310F +1 more) | Single nucleotide variant (missense variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (T307A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | SP110, SP140 (G299R +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | SP110, SP140 (S302fs +1 more) | Deletion (frameshift variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K300E +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K299E +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K293* +1 more) | Single nucleotide variant (nonsense) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (C283F +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (C283S +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K281R +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (K278Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SP110, SP140 (K278E +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Deletion (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP140, SP110 (K282E +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (P272T +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (V274L +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (E251D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Mycobacterium tuberculosis, susceptibility to | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Microsatellite (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (E251Q +1 more) | Indel (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP140, SP110 (E251Q +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (M255V +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (G253D +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (H249R +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |