Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004509.3(SP110):c.877A>T (p.Lys293Ter) | -1 | - | Likely pathogenic | 199845488 | RCV000169676; | N | MedGen:C1856128,OMIM:235550,ORPHA:79124 | 2 | 231072727 | 231072727 | NM_004509.3:c.877A>T | NP_004500.3:p.Lys293Ter | NC_000002.11:g.231072727T>A | - | C1856128 235550 Hepatic venoocclusive disease with immunodeficiency | | |
NM_080424.2(SP110):c.667+1dup | -1 | - | Pathogenic | 397515571 | RCV000055978; | Y | MedGen:C1856128,OMIM:235550,ORPHA:79124 | 2 | 231077061 | 231077061 | NM_080424.2:c.667+1dup | | NC_000002.11:g.231077061dupC | - | C1856128 235550 Hepatic venoocclusive disease with immunodeficiency | | |
NM_080424.2(SP110):c.642delC (p.Ser215Alafs) | -1 | - | Pathogenic | 397515361 | RCV000005875; | Y | MedGen:C1856128,OMIM:235550,ORPHA:79124 | 2 | 231077087 | 231077087 | NM_080424.2:c.642delC | NP_536349.2:p.Ser215Alafs | NC_000002.11:g.231077087delG | OMIM Allelic Variant:604457.0001 | C1856128 235550 Hepatic venoocclusive disease with immunodeficiency | | |
NM_080424.2(SP110):c.373delA (p.Thr125Leufs) | -1 | - | Pathogenic | 397515570 | RCV000055975; | Y | MedGen:C1856128,OMIM:235550,ORPHA:79124 | 2 | 231077686 | 231077686 | NM_080424.2:c.373delA | NP_536349.2:p.Thr125Leufs | NC_000002.11:g.231077686delT | - | C1856128 235550 Hepatic venoocclusive disease with immunodeficiency | | |
NM_080424.2(SP110):c.319_325dupGGTGCTT (p.Ser109Trpfs) | -1 | - | Pathogenic | 397515569 | RCV000055974; | Y | MedGen:C1856128,OMIM:235550,ORPHA:79124 | 2 | 231077734 | 231077740 | NM_080424.2:c.319_325dupGGTGCTT | NP_536349.2:p.Ser109Trpfs | NC_000002.11:g.231077734_231077740dupAAGCACC | - | C1856128 235550 Hepatic venoocclusive disease with immunodeficiency | | |
NM_080424.2(SP110):c.78_79delCAinsAT (p.Ile27Leu) | -1 | - | Pathogenic | 397515572 | RCV000055979; | Y | MedGen:C1856128,OMIM:235550,ORPHA:79124 | 2 | 231081564 | 231081565 | NM_080424.2:c.78_79delCAinsAT | NP_536349.2:p.Ile27Leu | NC_000002.11:g.231081564_231081565delTGinsAT | - | C1856128 235550 Hepatic venoocclusive disease with immunodeficiency | | |
NM_080424.2(SP110):c.40delC (p.Gln14Serfs) | -1 | - | Pathogenic | 397515362 | RCV000005876; | Y | MedGen:C1856128,OMIM:235550,ORPHA:79124 | 2 | 231081603 | 231081603 | NM_080424.2:c.40delC | NP_536349.2:p.Gln14Serfs | NC_000002.11:g.231081603delG | OMIM Allelic Variant:604457.0002 | C1856128 235550 Hepatic venoocclusive disease with immunodeficiency | | |