Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_174917.4(ACSF3):c.593T>G (p.Met198Arg) | 197322 | ACSF3 | Pathogenic | 387907121 | RCV000024137; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504 | 16 | 89167682 | 89167682 | NM_174917.4:c.593T>G | NP_777577.2:p.Met198Arg | NC_000016.9:g.89167682T>G | OMIM Allelic Variant:614245.0008 | C3280314 614265 Combined malonic and methylmalonic aciduria | | |
NM_174917.4(ACSF3):c.728C>T (p.Pro243Leu) | 197322 | ACSF3 | Pathogenic | 140986055 | RCV000024136; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504 | 16 | 89169073 | 89169073 | NM_174917.4:c.728C>T | NP_777577.2:p.Pro243Leu | NC_000016.9:g.89169073C>T | OMIM Allelic Variant:614245.0007 | C3280314 614265 Combined malonic and methylmalonic aciduria | | |
NM_174917.4(ACSF3):c.1073C>T (p.Thr358Ile) | 197322 | ACSF3 | Pathogenic | 387907120 | RCV000024135; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504 | 16 | 89180842 | 89180842 | NM_174917.4:c.1073C>T | NP_777577.2:p.Thr358Ile | NC_000016.9:g.89180842C>T | OMIM Allelic Variant:614245.0006 | C3280314 614265 Combined malonic and methylmalonic aciduria | | |
NM_174917.4(ACSF3):c.1075G>A (p.Glu359Lys) | 197322 | ACSF3 | Pathogenic | 150487794 | RCV000024132; RCV000185748; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504; MedGen:CN221809 | 16 | 89180844 | 89180844 | NM_174917.4:c.1075G>A | NP_777577.2:p.Glu359Lys | NC_000016.9:g.89180844G>A | OMIM Allelic Variant:614245.0003 | C3280314 614265 Combined malonic and methylmalonic aciduria; CN221809 not provided | | |
NM_174917.4(ACSF3):c.1411C>T (p.Arg471Trp) | 197322 | ACSF3 | Pathogenic | 138680796 | RCV000024133; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504 | 16 | 89211719 | 89211719 | NM_174917.4:c.1411C>T | NP_777577.2:p.Arg471Trp | NC_000016.9:g.89211719C>T | OMIM Allelic Variant:614245.0004 | C3280314 614265 Combined malonic and methylmalonic aciduria | | |
NM_174917.4(ACSF3):c.1412G>A (p.Arg471Gln) | 197322 | ACSF3 | Pathogenic | 387907119 | RCV000024134; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504 | 16 | 89211720 | 89211720 | NM_174917.4:c.1412G>A | NP_777577.2:p.Arg471Gln | NC_000016.9:g.89211720G>A | OMIM Allelic Variant:614245.0005 | C3280314 614265 Combined malonic and methylmalonic aciduria | | |
NM_174917.4(ACSF3):c.1567C>T (p.Arg523Ter) | 197322 | ACSF3 | Pathogenic | 387907118 | RCV000024131; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504 | 16 | 89212411 | 89212411 | NM_174917.4:c.1567C>T | NP_777577.2:p.Arg523Ter | NC_000016.9:g.89212411C>T | OMIM Allelic Variant:614245.0002 | C3280314 614265 Combined malonic and methylmalonic aciduria | | |
NM_174917.4(ACSF3):c.1672C>T (p.Arg558Trp) | 197322 | ACSF3 | Pathogenic | 141090143 | RCV000024130; RCV000185751; | N | MedGen:C3280314,OMIM:614265,ORPHA:289504; MedGen:CN221809 | 16 | 89220556 | 89220556 | NM_174917.4:c.1672C>T | NP_777577.2:p.Arg558Trp | NC_000016.9:g.89220556C>T | OMIM Allelic Variant:614245.0001 | C3280314 614265 Combined malonic and methylmalonic aciduria; CN221809 not provided | | |