"GeneDx"[submitter] AND "ALDH5A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1191435	NC_000006.12:g.24494624T>C	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1276556	NC_000006.12:g.24494696C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1281626	NC_000006.12:g.24494747C>G	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1233201	NC_000006.12:g.24494776C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1282291	NC_000006.12:g.24494822C>G	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1199105	NC_000006.12:g.24494888C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GLikely benign
Select item 288703	NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)	LOC129995978, ALDH5A1 +1 more (C4G)	Single nucleotide variant (missense variant)	ALDH5A1-related condition +3 more	GBenign/Likely benign
Select item 459979	NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)	ALDH5A1, GPLD1 +1 more (I5V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 459983	NM_001080.3(ALDH5A1):c.18G>T (p.Trp6Cys)	ALDH5A1, GPLD1 +1 more (W6C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 837293	NM_001080.3(ALDH5A1):c.20T>G (p.Leu7Arg)	ALDH5A1, GPLD1 +1 more (L7R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1095033	NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)	ALDH5A1, GPLD1 +1 more (R8W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 657214	NM_001080.3(ALDH5A1):c.28T>A (p.Cys10Ser)	ALDH5A1, GPLD1 +1 more (C10S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1075244	NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs)	GPLD1, ALDH5A1 +1 more (A12fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 597221	NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)	ALDH5A1, GPLD1 +1 more (G11E)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1058384	NM_001080.3(ALDH5A1):c.37C>T (p.Arg13Trp)	GPLD1, LOC129995978 +1 more (R13W)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 1306020	NM_001080.3(ALDH5A1):c.46G>A (p.Gly16Arg)	ALDH5A1, GPLD1 +1 more (G16R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 848219	NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)	ALDH5A1, GPLD1 +1 more (R27G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1710792	NM_001080.3(ALDH5A1):c.98C>T (p.Pro33Leu)	ALDH5A1, GPLD1 +1 more (P33L)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 596498	NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	ALDH5A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 285783	NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)	ALDH5A1, GPLD1 +1 more (G36R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 501383	NM_001080.3(ALDH5A1):c.113C>T (p.Ala38Val)	ALDH5A1, GPLD1 +1 more (A38V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356126	NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)	ALDH5A1, GPLD1 +1 more (L44V)	Single nucleotide variant (missense variant)	ALDH5A1-related condition +2 more	GBenign/Likely benign
Select item 724868	NM_001080.3(ALDH5A1):c.175C>T (p.Leu59=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	ALDH5A1-related condition +2 more	GLikely benign
Select item 595499	NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 449408	NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)	ALDH5A1, GPLD1 +1 more (C93F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 356128	NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)	ALDH5A1, LOC129995978 (A98G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1697114	NM_001080.3(ALDH5A1):c.299C>T (p.Ala100Val)	ALDH5A1, LOC129995978 (A100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850893	NM_001080.3(ALDH5A1):c.305T>G (p.Val102Gly)	ALDH5A1, LOC129995978 (V102G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 659576	NM_001080.3(ALDH5A1):c.317A>G (p.Tyr106Cys)	LOC129995978, ALDH5A1 (Y106C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1274705	NM_001080.3(ALDH5A1):c.354+27A>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225624	NM_001080.3(ALDH5A1):c.354+63C>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196322	NM_001080.3(ALDH5A1):c.354+131G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182849	NM_001080.3(ALDH5A1):c.354+185T>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270317	NM_001080.3(ALDH5A1):c.355-267A>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275713	NM_001080.3(ALDH5A1):c.355-253T>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194334	NM_001080.3(ALDH5A1):c.355-200G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296592	NM_001080.3(ALDH5A1):c.355-172G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276646	NM_001080.3(ALDH5A1):c.355-72T>C	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284326	NM_001080.3(ALDH5A1):c.355-9C>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2576936	NM_001080.3(ALDH5A1):c.375delinsTGGTACAATTTAATGATACA (p.Arg125_Lys126insGlyThrIleTer)	ALDH5A1	Indel (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1214055	NM_001080.3(ALDH5A1):c.439-287C>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246004	NM_001080.3(ALDH5A1):c.439-238del	ALDH5A1	Deletion (intron variant)	not provided	GBenign
Select item 459988	NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 817416	NM_001080.3(ALDH5A1):c.498del (p.Trp166fs)	ALDH5A1 (W166fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1302496	NM_001080.3(ALDH5A1):c.514C>G (p.Arg172Gly)	ALDH5A1 (R172G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004401	NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys)	ALDH5A1 (R172C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 907464	NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His)	ALDH5A1 (R173H)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 379247	NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)	ALDH5A1 (G176R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GPathogenic
Select item 128343	NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)	ALDH5A1 (H180Y)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 529481	NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile)	ALDH5A1 (T181I)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 128344	NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)	ALDH5A1 (P182L)	Single nucleotide variant (missense variant)	ALDH5A1-related condition +3 more	GBenign
Select item 663114	NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs)	ALDH5A1 (V190fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 424336	NM_001080.3(ALDH5A1):c.565C>G (p.Leu189Val)	ALDH5A1 (L189V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683947	NM_001080.3(ALDH5A1):c.581C>T (p.Pro194Leu)	ALDH5A1 (P194L)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 289419	NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 284327	NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile)	ALDH5A1 (T202I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334843	NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)	ALDH5A1 (P203L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1307100	NM_001080.3(ALDH5A1):c.609G>T (p.Pro203=)	ALDH5A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1220166	NM_001080.3(ALDH5A1):c.609+107A>C	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273956	NM_001080.3(ALDH5A1):c.609+201G>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244050	NM_001080.3(ALDH5A1):c.609+237G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246503	NM_001080.3(ALDH5A1):c.610-152dup	ALDH5A1	Duplication (intron variant)	not provided	GBenign
Select item 1276070	NM_001080.3(ALDH5A1):c.610-67A>G	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356133	NM_001080.3(ALDH5A1):c.610-5C>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 459990	NM_001080.3(ALDH5A1):c.610-2A>G	ALDH5A1	Single nucleotide variant (splice acceptor variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GPathogenic
Select item 1357	NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)	ALDH5A1 (W204*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 423243	NM_001080.3(ALDH5A1):c.649G>A (p.Ala217Thr)	ALDH5A1 (A217T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449409	NM_001080.3(ALDH5A1):c.668G>A (p.Cys223Tyr)	ALDH5A1 (C223Y)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1707765	NM_001080.3(ALDH5A1):c.671C>T (p.Thr224Ile)	ALDH5A1 (T224I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 459992	NM_001080.3(ALDH5A1):c.678G>C (p.Val226=)	ALDH5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 786389	NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=)	ALDH5A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 934137	NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys)	ALDH5A1 (E231K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 218854	NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)	ALDH5A1 (A237S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 356134	NM_001080.3(ALDH5A1):c.726+3G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 356135	NM_001080.3(ALDH5A1):c.726+8G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1237142	NM_001080.3(ALDH5A1):c.726+141G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183706	NM_001080.3(ALDH5A1):c.727-264G>A	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251246	NM_001080.3(ALDH5A1):c.727-233G>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180882	NM_001080.3(ALDH5A1):c.727-44A>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296585	NM_001080.3(ALDH5A1):c.727-27G>C	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356136	NM_001080.3(ALDH5A1):c.727-15T>C	ALDH5A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 904925	NM_001080.3(ALDH5A1):c.727-13T>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 859859	NM_001080.3(ALDH5A1):c.735C>G (p.Ser245Arg)	ALDH5A1 (S245R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 529485	NM_001080.3(ALDH5A1):c.786G>C (p.Lys262Asn)	ALDH5A1 (K262N +1 more)	Single nucleotide variant (missense variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 961056	NM_001080.3(ALDH5A1):c.799G>T (p.Val267Leu)	ALDH5A1 (V267L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 235512	NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)	ALDH5A1 (G281E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 521941	NM_001080.3(ALDH5A1):c.819del (p.Asp274fs)	ALDH5A1 (D274fs +1 more)	Deletion (intron variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 949066	NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala)	ALDH5A1 (T287A +1 more)	Single nucleotide variant (missense variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 664116	NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)	ALDH5A1 (T301A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1189365	NM_001080.3(ALDH5A1):c.870+284C>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194842	NM_001080.3(ALDH5A1):c.870+301A>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251299	NM_001080.3(ALDH5A1):c.871-57C>T	ALDH5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 235630	NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr)	ALDH5A1 (A309T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 284072	NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)	ALDH5A1 (V321M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1073790	NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs)	ALDH5A1 (Q275fs +2 more)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GPathogenic
Select item 802192	NM_001080.3(ALDH5A1):c.1014+60TG[6]	ALDH5A1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1203782	NM_001080.3(ALDH5A1):c.1014+90GT[8]	ALDH5A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1278169	NM_001080.3(ALDH5A1):c.1015-263_1015-262insGTGTGTGTATGT	ALDH5A1, LOC129995983	Microsatellite (intron variant)	not provided	GBenign
Select item 1229030	NM_001080.3(ALDH5A1):c.1015-263_1015-262insGTGTGTGTGTATGT	ALDH5A1, LOC129995983	Microsatellite (intron variant)	not provided	GBenign
Select item 1199669	NM_001080.3(ALDH5A1):c.1015-263_1015-262insGTGTGTATGT	ALDH5A1, LOC129995983	Microsatellite (intron variant)	not provided	GLikely benign

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