Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001482.2(GATM):c.1111dupA (p.Met371Asnfs) | 2628 | GATM | Pathogenic | 397515542 | RCV000049331; | N | MedGen:C2675179,OMIM:612718,ORPHA:35704 | 15 | 45656146 | 45656146 | NM_001482.2:c.1111dupA | NP_001473.1:p.Met371Asnfs | NC_000015.9:g.45656146dupT | OMIM Allelic Variant:602360.0002 | C2675179 612718 Arginine:glycine amidinotransferase deficiency | | |
NM_001482.2(GATM):c.608A>C (p.Tyr203Ser) | 2628 | GATM | Pathogenic | 397514709 | RCV000049334; | N | MedGen:C2675179,OMIM:612718,ORPHA:35704 | 15 | 45660335 | 45660335 | NM_001482.2:c.608A>C | NP_001473.1:p.Tyr203Ser | NC_000015.9:g.45660335T>G | OMIM Allelic Variant:602360.0005 | C2675179 612718 Arginine:glycine amidinotransferase deficiency | | |
NM_001482.2(GATM):c.505C>T (p.Arg169Ter) | 2628 | GATM | Pathogenic | 397514708 | RCV000049332; | N | MedGen:C2675179,OMIM:612718,ORPHA:35704 | 15 | 45660438 | 45660438 | NM_001482.2:c.505C>T | NP_001473.1:p.Arg169Ter | NC_000015.9:g.45660438G>A | OMIM Allelic Variant:602360.0003 | C2675179 612718 Arginine:glycine amidinotransferase deficiency | | |
NM_001482.2(GATM):c.484+1G>T | 2628 | GATM | Pathogenic | 80338738 | RCV000020462; | N | MedGen:C2675179,OMIM:612718,ORPHA:35704 | 15 | 45661523 | 45661523 | NM_001482.2:c.484+1G>T | | NC_000015.9:g.45661523C>A | - | C2675179 612718 Arginine:glycine amidinotransferase deficiency | | |
NM_001482.2(GATM):c.446G>A (p.Trp149Ter) | 2628 | GATM | Pathogenic | 80338737 | RCV000007725; | N | MedGen:C2675179,OMIM:612718,ORPHA:35704 | 15 | 45661562 | 45661562 | NM_001482.2:c.446G>A | NP_001473.1:p.Trp149Ter | NC_000015.9:g.45661562C>T | OMIM Allelic Variant:602360.0001 | C2675179 612718 Arginine:glycine amidinotransferase deficiency | | |