Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000159.3(GCDH):c.1244-2A>C | -1 | - | Pathogenic | 199999619 | RCV000174223; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010280 | 13010280 | NM_000159.3:c.1244-2A>C | | NC_000019.9:g.13010280A>C | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1247C>T (p.Thr416Ile) | -1 | - | Pathogenic | 121434368 | RCV000002165; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010285 | 13010285 | NM_000159.3:c.1247C>T | NP_000150.1:p.Thr416Ile | NC_000019.9:g.13010285C>T | OMIM Allelic Variant:608801.0003 | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1262C>T (p.Ala421Val) | -1 | - | Pathogenic | 121434367 | RCV000002163; | Y | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010300 | 13010300 | NM_000159.3:c.1262C>T | NP_000150.1:p.Ala421Val | NC_000019.9:g.13010300C>T | OMIM Allelic Variant:608801.0002 | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_013976.3(GCDH):c.1250A>G (p.Gln417Arg) | -1 | - | Likely pathogenic | 8012 | RCV000190518; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010520 | 13010520 | NM_013976.3:c.1250A>G | NP_039663.1:p.Gln417Arg | NC_000019.9:g.13010520A>G | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.*288G>T | -1 | - | Likely pathogenic | 9384 | RCV000190519; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010643 | 13010643 | NM_000159.3:c.*288G>T | | NC_000019.9:g.13010643G>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.*331T>C | -1 | - | Uncertain significance | 869025297 | RCV000207436; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010686 | 13010686 | NM_000159.3:c.*331T>C | | NC_000019.9:g.13010686T>C | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.*332C>A | -1 | - | Uncertain significance | 869025298 | RCV000207373; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010687 | 13010687 | NM_000159.3:c.*332C>A | | NC_000019.9:g.13010687C>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.*340G>A | -1 | - | Uncertain significance | 190174770 | RCV000207400; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13010695 | 13010695 | NM_000159.3:c.*340G>A | | NC_000019.9:g.13010695G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.262C>T (p.Arg88Cys) | 2639 | GCDH | Likely pathogenic | 142967670 | RCV000169574; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13002779 | 13002779 | NM_000159.3:c.262C>T | NP_000150.1:p.Arg88Cys | NC_000019.9:g.13002779C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.271+1G>A | 2639 | GCDH | Likely pathogenic | 786204639 | RCV000169420; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13002789 | 13002789 | NM_000159.3:c.271+1G>A | | NC_000019.9:g.13002789G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.383G>A (p.Arg128Gln) | 2639 | GCDH | Likely pathogenic | 755586631 | RCV000169460; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13004345 | 13004345 | NM_000159.3:c.383G>A | NP_000150.1:p.Arg128Gln | NC_000019.9:g.13004345G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.416C>T (p.Ser139Leu) | 2639 | GCDH | Likely pathogenic | 139851890 | RCV000169288; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13004378 | 13004378 | NM_000159.3:c.416C>T | NP_000150.1:p.Ser139Leu | NC_000019.9:g.13004378C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.482G>A (p.Arg161Gln) | 2639 | GCDH | Likely pathogenic | 777201305 | RCV000169118; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13004444 | 13004444 | NM_000159.3:c.482G>A | NP_000150.1:p.Arg161Gln | NC_000019.9:g.13004444G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.533G>A (p.Gly178Glu) | 2639 | GCDH | Likely pathogenic | 786204627 | RCV000169399; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13006833 | 13006833 | NM_000159.3:c.533G>A | NP_000150.1:p.Gly178Glu | NC_000019.9:g.13006833G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.542A>G (p.Glu181Gly) | 2639 | GCDH | Pathogenic | 398123194 | RCV000179724; RCV000078254; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809 | 19 | 13006842 | 13006842 | NM_000159.3:c.542A>G | NP_000150.1:p.Glu181Gly | NC_000019.9:g.13006842A>G | HGMD:CM081270 | C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided | | |
NM_000159.3(GCDH):c.572T>C (p.Met191Thr) | 2639 | GCDH | Likely pathogenic | 149120354 | RCV000179723; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13006872 | 13006872 | NM_000159.3:c.572T>C | NP_000150.1:p.Met191Thr | NC_000019.9:g.13006872T>C | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.636-1G>A | 2639 | GCDH | Pathogenic | 398123195 | RCV000180102; RCV000078255; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809 | 19 | 13007018 | 13007018 | NM_000159.3:c.636-1G>A | | NC_000019.9:g.13007018G>A | HGMD:CS000458 | C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided | | |
NM_000159.3(GCDH):c.675G>A (p.Trp225Ter) | 2639 | GCDH | Pathogenic | 786205862 | RCV000171558; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007058 | 13007058 | NM_000159.3:c.675G>A | NP_000150.1:p.Trp225Ter | NC_000019.9:g.13007058G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.680G>C (p.Arg227Pro) | 2639 | GCDH | Likely pathogenic;Pathogenic | 121434373 | RCV000002170; RCV000078256; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809 | 19 | 13007063 | 13007063 | NM_000159.3:c.680G>C | NP_000150.1:p.Arg227Pro | NC_000019.9:g.13007063G>C | HGMD:CM960711,OMIM Allelic Variant:608801.0009 | C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided | | |
NM_000159.3(GCDH):c.769C>T (p.Arg257Trp) | 2639 | GCDH | Likely pathogenic | 766518430 | RCV000169226; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007152 | 13007152 | NM_000159.3:c.769C>T | NP_000150.1:p.Arg257Trp | NC_000019.9:g.13007152C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.795_796insCTATGATCATC (p.Met266Leufs) | 2639 | GCDH | Pathogenic | 869025300 | RCV000207382; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007178 | 13007179 | NM_000159.3:c.795_796insCTATGATCATC | NP_000150.1:p.Met266Leufs | NC_000019.9:g.13007178_13007179insCTATGATCATC | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.826G>T (p.Val276Leu) | 2639 | GCDH | Uncertain significance | 763300541 | RCV000211677; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007209 | 13007209 | NM_000159.3:c.826G>T | NP_000150.1:p.Val276Leu | NC_000019.9:g.13007209G>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.852+223C>T | 2639 | GCDH | Likely pathogenic | 11085825 | RCV000207433; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007458 | 13007458 | NM_000159.3:c.852+223C>T | | NC_000019.9:g.13007458C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.856C>T (p.Pro286Ser) | 2639 | GCDH | Likely pathogenic | 786205861 | RCV000171557; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007727 | 13007727 | NM_000159.3:c.856C>T | NP_000150.1:p.Pro286Ser | NC_000019.9:g.13007727C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.877G>A (p.Ala293Thr) | 2639 | GCDH | Pathogenic | 121434371 | RCV000002164; RCV000153311; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809 | 19 | 13007748 | 13007748 | NM_000159.3:c.877G>A | NP_000150.1:p.Ala293Thr | NC_000019.9:g.13007748G>A | HGMD:CM960713,OMIM Allelic Variant:608801.0007 | C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided | | |
NM_000159.3(GCDH):c.883T>C (p.Tyr295His) | 2639 | GCDH | Pathogenic | 121434366 | RCV000002162; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007754 | 13007754 | NM_000159.3:c.883T>C | NP_000150.1:p.Tyr295His | NC_000019.9:g.13007754T>C | OMIM Allelic Variant:608801.0001 | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.885C>T (p.Tyr295=) | 2639 | GCDH | Uncertain significance | 139192015 | RCV000171559; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13007756 | 13007756 | NM_000159.3:c.885C>T | NP_000150.1:p.Tyr295= | NC_000019.9:g.13007756C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1031C>T (p.Thr344Ile) | 2639 | GCDH | Likely pathogenic | 869025299 | RCV000207408; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008191 | 13008191 | NM_000159.3:c.1031C>T | NP_000150.1:p.Thr344Ile | NC_000019.9:g.13008191C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1060G>A (p.Gly354Ser) | 2639 | GCDH | Likely pathogenic | 768925619 | RCV000169320; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008220 | 13008220 | NM_000159.3:c.1060G>A | NP_000150.1:p.Gly354Ser | NC_000019.9:g.13008220G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys) | 2639 | GCDH | Pathogenic | 121434370 | RCV000002167; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008527 | 13008527 | NM_000159.3:c.1093G>A | NP_000150.1:p.Glu365Lys | NC_000019.9:g.13008527G>A | OMIM Allelic Variant:608801.0005 | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1147C>T (p.Arg383Cys) | 2639 | GCDH | Likely pathogenic | 150938052 | RCV000169204; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008581 | 13008581 | NM_000159.3:c.1147C>T | NP_000150.1:p.Arg383Cys | NC_000019.9:g.13008581C>T | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1168G>C (p.Gly390Arg) | 2639 | GCDH | Pathogenic | 372983141 | RCV000173983; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008602 | 13008602 | NM_000159.3:c.1168G>C | NP_000150.1:p.Gly390Arg | NC_000019.9:g.13008602G>C | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1198G>A (p.Val400Met) | 2639 | GCDH | Pathogenic | 121434372 | RCV000002169; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008632 | 13008632 | NM_000159.3:c.1198G>A | NP_000150.1:p.Val400Met | NC_000019.9:g.13008632G>A | OMIM Allelic Variant:608801.0008 | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp) | 2639 | GCDH | Pathogenic | 121434369 | RCV000002166; | Y | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008638 | 13008638 | NM_000159.3:c.1204C>T | NP_000150.1:p.Arg402Trp | NC_000019.9:g.13008638C>T | OMIM Allelic Variant:608801.0004 | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1205G>A (p.Arg402Gln) | 2639 | GCDH | Likely pathogenic | 786204626 | RCV000169398; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008639 | 13008639 | NM_000159.3:c.1205G>A | NP_000150.1:p.Arg402Gln | NC_000019.9:g.13008639G>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1213A>G (p.Met405Val) | 2639 | GCDH | Pathogenic | 141437721 | RCV000173982; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008647 | 13008647 | NM_000159.3:c.1213A>G | NP_000150.1:p.Met405Val | NC_000019.9:g.13008647A>G | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1239C>A (p.Tyr413Ter) | 2639 | GCDH | Likely pathogenic | 776082304 | RCV000169467; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005 | 19 | 13008673 | 13008673 | NM_000159.3:c.1239C>A | NP_000150.1:p.Tyr413Ter | NC_000019.9:g.13008673C>A | - | C0268595 231670 Glutaric aciduria, type 1 | | |
NM_000159.3(GCDH):c.1240G>A (p.Glu414Lys) | 2639 | GCDH | Pathogenic | 147611168 | RCV000173984; RCV000153312; | N | MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809 | 19 | 13008674 | 13008674 | NM_000159.3:c.1240G>A | NP_000150.1:p.Glu414Lys | NC_000019.9:g.13008674G>A | HGMD:CM960720 | C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided | | |