| | | 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) | 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) | 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 | |
| | SP110, SP140 (K278Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SP110, SP140 (M247V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SP110, SP140 (T218A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | SP110-related disorder | |
| | SP110, SP140 (D167G +1 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 (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (V315fs +1 more) | Deletion (frameshift variant +1 more) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous 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 | |
| | SP110, SP140 (K278E +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (H34fs +1 more) | Duplication (frameshift variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | SP110, SP140 (Y100fs +1 more) | Deletion (frameshift variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Deletion (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (synonymous 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 (S364P +2 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | LOC129935748, SP110 +1 more | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | SP140, SP110 (C152Y +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SP110, SP140 (T307A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | SP110, SP140 (E251D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SP110, SP140 (R105C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | 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 +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 | |
| | SP110, SP140 (E341D +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | SP110, SP140 (M1I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |
| | | 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) | not specified | |
| | SP110, SP140 (H18Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | SP110, SP140 (L139P +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SP110, SP140 (S86G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 | |
| | SP110, SP140 (R91H +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 (A230V +1 more) | Single nucleotide variant (missense variant) | Hepatic veno-occlusive disease-immunodeficiency syndrome | |