Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) | 3981 | LIG4 | Pathogenic | 104894419 | RCV000008112; | N | MedGen:C1847827,OMIM:606593,ORPHA:99812 | 13 | 108861177 | 108861177 | NM_002312.3:c.2440C>T | NP_002303.2:p.Arg814Ter | NC_000013.10:g.108861177G>A | OMIM Allelic Variant:601837.0002 | C1847827 606593 Lig4 syndrome | | |
NM_002312.3(LIG4):c.1738C>T (p.Arg580Ter) | 3981 | LIG4 | Pathogenic | 104894418 | RCV000008111; | N | MedGen:C1847827,OMIM:606593,ORPHA:99812 | 13 | 108861879 | 108861879 | NM_002312.3:c.1738C>T | NP_002303.2:p.Arg580Ter | NC_000013.10:g.108861879G>A | OMIM Allelic Variant:601837.0001 | C1847827 606593 Lig4 syndrome | | |
NM_002312.3(LIG4):c.1406G>A (p.Gly469Glu) | 3981 | LIG4 | Pathogenic | 104894420 | RCV000008113; | N | MedGen:C1847827,OMIM:606593,ORPHA:99812 | 13 | 108862211 | 108862211 | NM_002312.3:c.1406G>A | NP_002303.2:p.Gly469Glu | NC_000013.10:g.108862211C>T | OMIM Allelic Variant:601837.0003 | C1847827 606593 Lig4 syndrome | | |
NM_002312.3(LIG4):c.1298_1300delAAC (p.Gln433del) | 3981 | LIG4 | Pathogenic | 587776663 | RCV000008117; | N | MedGen:C1847827,OMIM:606593,ORPHA:99812 | 13 | 108862317 | 108862319 | NM_002312.3:c.1298_1300delAAC | NP_002303.2:p.Gln433del | | OMIM Allelic Variant:601837.0007 | C1847827 606593 Lig4 syndrome | | |
NM_002312.3(LIG4):c.833G>A (p.Arg278His) | 3981 | LIG4 | Pathogenic | 104894421 | RCV000008114; | N | MedGen:C1847827,OMIM:606593,ORPHA:99812 | 13 | 108862784 | 108862784 | NM_002312.3:c.833G>A | NP_002303.2:p.Arg278His | NC_000013.10:g.108862784C>T | OMIM Allelic Variant:601837.0004 | C1847827 606593 Lig4 syndrome | | |