Related gene-specific medical variations for Gene (Select 7915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364280	NM_001080.3(ALDH5A1):c.354+5G>A	ALDH5A1, LOC129995978	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3362319	NM_001080.3(ALDH5A1):c.1574_1575del (p.Leu525fs)	ALDH5A1 (L477fs +2 more)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 3343815	NM_001080.3(ALDH5A1):c.271G>A (p.Ala91Thr)	ALDH5A1, GPLD1 +1 more (A91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283678	NM_001080.3(ALDH5A1):c.260T>A (p.Leu87Gln)	ALDH5A1, GPLD1 +1 more (L87Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283667	NM_001080.3(ALDH5A1):c.207G>T (p.Trp69Cys)	ALDH5A1, GPLD1 +1 more (W69C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245972	NC_000006.11:g.(?_24533732)_(24539525_?)del	ALDH5A1	Deletion	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 3109823	NM_001080.3(ALDH5A1):c.77C>A (p.Pro26His)	ALDH5A1, GPLD1 +1 more (P26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109799	NM_001080.3(ALDH5A1):c.337A>T (p.Arg113Trp)	ALDH5A1, LOC129995978 (R113W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065698	NM_001080.3(ALDH5A1):c.209T>C (p.Leu70Pro)	ALDH5A1, GPLD1 +1 more (L70P)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 3065537	NM_001080.3(ALDH5A1):c.668G>C (p.Cys223Ser)	ALDH5A1 (C223S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 3035102	NM_001080.3(ALDH5A1):c.-9G>A	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (5 prime UTR variant)	ALDH5A1-related disorder	GLikely benign
Select item 3024303	NM_001080.3(ALDH5A1):c.305_307dup (p.Val102_Arg103insLeu)	ALDH5A1, LOC129995978	Duplication (inframe_insertion)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 3019465	NM_001080.3(ALDH5A1):c.104C>G (p.Ser35Cys)	ALDH5A1, GPLD1 +1 more (S35C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 3013780	NM_001080.3(ALDH5A1):c.156G>C (p.Ala52=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2996470	NM_001080.3(ALDH5A1):c.118_130dup (p.Leu44fs)	ALDH5A1, GPLD1 +1 more (L44fs)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2976293	NM_001080.3(ALDH5A1):c.219C>T (p.Ala73=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2870595	NM_001080.3(ALDH5A1):c.354+11C>T	ALDH5A1, LOC129995978	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2864797	NM_001080.3(ALDH5A1):c.324T>C (p.Ala108=)	ALDH5A1, LOC129995978	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2856278	NM_001080.3(ALDH5A1):c.63C>G (p.Gly21=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2854397	NM_001080.3(ALDH5A1):c.243G>C (p.Pro81=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2833277	NM_001080.3(ALDH5A1):c.354+11C>G	ALDH5A1, LOC129995978	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2821313	NM_001080.3(ALDH5A1):c.153G>C (p.Leu51=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2797966	NM_001080.3(ALDH5A1):c.345C>G (p.Val115=)	ALDH5A1, LOC129995978	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2790751	NM_001080.3(ALDH5A1):c.210C>T (p.Leu70=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2786222	NM_001080.3(ALDH5A1):c.109C>T (p.Pro37Ser)	ALDH5A1, GPLD1 +1 more (P37S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2761602	NM_001080.3(ALDH5A1):c.156G>T (p.Ala52=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2752587	NM_001080.3(ALDH5A1):c.315C>T (p.Ala105=)	ALDH5A1, LOC129995978	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GBenign
Select item 2742430	NM_001080.3(ALDH5A1):c.172C>T (p.Leu58=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2690876	NM_001080.3(ALDH5A1):c.101C>T (p.Ala34Val)	LOC129995978, ALDH5A1 +1 more (A34V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2506510	NM_001080.3(ALDH5A1):c.85_116del (p.Gly29fs)	ALDH5A1, GPLD1 +1 more (G29fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2506509	NM_001080.3(ALDH5A1):c.454G>C (p.Glu152Gln)	ALDH5A1 (E152Q)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2506508	NM_001080.3(ALDH5A1):c.427del (p.Thr143fs)	ALDH5A1 (T143fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 2506507	NM_001080.3(ALDH5A1):c.479C>T (p.Ser160Phe)	ALDH5A1 (S160F)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2506506	NM_001080.3(ALDH5A1):c.762C>G (p.Tyr254Ter)	ALDH5A1 (Y254* +1 more)	Single nucleotide variant (nonsense +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2506505	NM_001080.3(ALDH5A1):c.1501G>C (p.Glu501Gln)	ALDH5A1 (E453Q +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2506504	NM_001080.3(ALDH5A1):c.206_222dup (p.Thr75fs)	ALDH5A1, GPLD1 +1 more (T75fs)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2440987	NM_001080.3(ALDH5A1):c.1388del (p.Asp463fs)	ALDH5A1 (D415fs +2 more)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 2434976	NM_001080.3(ALDH5A1):c.870+1G>T	ALDH5A1	Single nucleotide variant (splice donor variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2421737	NM_001080.3(ALDH5A1):c.12C>T (p.Cys4=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2404696	NM_001080.3(ALDH5A1):c.128A>C (p.Gln43Pro)	ALDH5A1, GPLD1 +1 more (Q43P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256938	NM_001080.3(ALDH5A1):c.298G>C (p.Ala100Pro)	ALDH5A1, LOC129995978 (A100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226359	NM_001080.3(ALDH5A1):c.223A>C (p.Thr75Pro)	ALDH5A1, GPLD1 +1 more (T75P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210589	NM_001080.3(ALDH5A1):c.205T>G (p.Trp69Gly)	ALDH5A1, GPLD1 +1 more (W69G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195043	NM_001080.3(ALDH5A1):c.46G>C (p.Gly16Arg)	ALDH5A1, GPLD1 +1 more (G16R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2191510	NM_001080.3(ALDH5A1):c.341A>C (p.Glu114Ala)	ALDH5A1, LOC129995978 (E114A)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2185068	NM_001080.3(ALDH5A1):c.85G>A (p.Gly29Ser)	ALDH5A1, GPLD1 +1 more (G29S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2178315	NM_001080.3(ALDH5A1):c.216C>T (p.Ala72=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2161688	NM_001080.3(ALDH5A1):c.5C>T (p.Ala2Val)	ALDH5A1, GPLD1 +1 more (A2V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2160454	NM_001080.3(ALDH5A1):c.320A>G (p.Glu107Gly)	ALDH5A1, LOC129995978 (E107G)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2129355	NM_001080.3(ALDH5A1):c.307C>G (p.Arg103Gly)	ALDH5A1, LOC129995978 (R103G)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2118497	NM_001080.3(ALDH5A1):c.170dup (p.Leu58fs)	ALDH5A1, GPLD1 +1 more (L58fs)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2115014	NM_001080.3(ALDH5A1):c.274G>A (p.Asp92Asn)	ALDH5A1, GPLD1 +1 more (D92N)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2114761	NM_001080.3(ALDH5A1):c.306G>T (p.Val102=)	ALDH5A1, LOC129995978	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2102926	NM_001080.3(ALDH5A1):c.105C>T (p.Ser35=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2101249	NM_001080.3(ALDH5A1):c.183C>T (p.Thr61=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2092333	NM_001080.3(ALDH5A1):c.111_122delinsG (p.Ala38fs)	ALDH5A1, GPLD1 +1 more (A38fs)	Indel (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2075350	NM_001080.3(ALDH5A1):c.120C>A (p.Gly40=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2071977	NM_001080.3(ALDH5A1):c.244G>A (p.Ala82Thr)	ALDH5A1, GPLD1 +1 more (A82T)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2071976	NM_001080.3(ALDH5A1):c.142G>T (p.Ala48Ser)	ALDH5A1, GPLD1 +1 more (A48S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2071889	NM_001080.3(ALDH5A1):c.73C>G (p.Arg25Gly)	ALDH5A1, GPLD1 +1 more (R25G)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2065862	NM_001080.3(ALDH5A1):c.24G>C (p.Arg8=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2064695	NM_001080.3(ALDH5A1):c.97C>T (p.Pro33Ser)	ALDH5A1, GPLD1 +1 more (P33S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2049816	NM_001080.3(ALDH5A1):c.331C>A (p.Arg111Ser)	ALDH5A1, LOC129995978 (R111S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2038984	NM_001080.3(ALDH5A1):c.79del (p.Arg27fs)	ALDH5A1, GPLD1 +1 more (R27fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2005503	NM_001080.3(ALDH5A1):c.56T>C (p.Phe19Ser)	ALDH5A1, GPLD1 +1 more (F19S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2003373	NM_001080.3(ALDH5A1):c.161_163dup (p.Leu54_Ser55insPhe)	ALDH5A1, GPLD1 +1 more	Duplication (inframe_insertion)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1974691	NM_001080.3(ALDH5A1):c.354+13G>T	ALDH5A1, LOC129995978	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1966169	NM_001080.3(ALDH5A1):c.180C>T (p.Arg60=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1921050	NM_001080.3(ALDH5A1):c.27C>G (p.Ser9Arg)	ALDH5A1, GPLD1 +1 more (S9R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1918257	NM_001080.3(ALDH5A1):c.2T>C (p.Met1Thr)	ALDH5A1, GPLD1 +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1916284	NM_001080.3(ALDH5A1):c.269T>C (p.Val90Ala)	ALDH5A1, GPLD1 +1 more (V90A)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1897663	NM_001080.3(ALDH5A1):c.244_251del (p.Ala82fs)	ALDH5A1, GPLD1 +1 more (A82fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878488	NM_001080.3(ALDH5A1):c.277T>C (p.Cys93Arg)	ALDH5A1, GPLD1 +1 more (C93R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 1878484	NM_001080.3(ALDH5A1):c.275A>G (p.Asp92Gly)	ALDH5A1, GPLD1 +1 more (D92G)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 1878475	NM_001080.3(ALDH5A1):c.235C>T (p.Gln79Ter)	ALDH5A1, GPLD1 +1 more (Q79*)	Single nucleotide variant (nonsense)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878470	NM_001080.3(ALDH5A1):c.164_165del (p.Ser55fs)	ALDH5A1, GPLD1 +1 more (S55fs)	Microsatellite (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878457	NM_001080.3(ALDH5A1):c.114_135dup (p.Cys46fs)	ALDH5A1, GPLD1 +1 more (C46fs)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878444	NM_001080.3(ALDH5A1):c.103_121del (p.Ser35fs)	ALDH5A1, GPLD1 +1 more (S35fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878437	NM_001080.3(ALDH5A1):c.354G>C (p.Lys118Asn)	ALDH5A1, LOC129995978 (K118N)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 1878436	NM_001080.3(ALDH5A1):c.290_310dup (p.Arg103_Ala104insGluAlaArgAlaAlaValArg)	ALDH5A1, GPLD1 +1 more	Duplication (inframe_insertion)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1878435	NM_001080.3(ALDH5A1):c.278_298dup (p.Arg99_Ala100insGlyGlyValArgGluAlaArg)	ALDH5A1, GPLD1 +1 more	Duplication (inframe_insertion)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1710792	NM_001080.3(ALDH5A1):c.98C>T (p.Pro33Leu)	ALDH5A1, GPLD1 +1 more (P33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1669390	NM_001080.3(ALDH5A1):c.354+13G>C	ALDH5A1, LOC129995978	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1659212	NM_001080.3(ALDH5A1):c.303C>T (p.Ala101=)	ALDH5A1, LOC129995978	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1623160	NM_001080.3(ALDH5A1):c.297C>T (p.Arg99=)	ALDH5A1, LOC129995978	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1608608	NM_001080.3(ALDH5A1):c.24G>T (p.Arg8=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1596933	NM_001080.3(ALDH5A1):c.75C>T (p.Arg25=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1590168	NM_001080.3(ALDH5A1):c.162C>T (p.Leu54=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1582665	NM_001080.3(ALDH5A1):c.54G>A (p.Thr18=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1573059	NM_001080.3(ALDH5A1):c.231C>G (p.Pro77=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1564590	NM_001080.3(ALDH5A1):c.42C>T (p.Arg14=)	LOC129995978, ALDH5A1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1564140	NM_001080.3(ALDH5A1):c.141C>T (p.Tyr47=)	LOC129995978, ALDH5A1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1518832	NM_001080.3(ALDH5A1):c.88G>T (p.Gly30Cys)	ALDH5A1, GPLD1 +1 more (G30C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1498289	NM_001080.3(ALDH5A1):c.71_76dup (p.Leu24_Arg25dup)	ALDH5A1, GPLD1 +1 more	Duplication (inframe_insertion)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1452396	NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter)	ALDH5A1, LOC129995978 (K118*)	Single nucleotide variant (nonsense)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1432066	NM_001080.3(ALDH5A1):c.208C>G (p.Leu70Val)	ALDH5A1, GPLD1 +1 more (L70V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1429003	NM_001080.3(ALDH5A1):c.166G>C (p.Ala56Pro)	ALDH5A1, GPLD1 +1 more (A56P)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1425092	NM_001080.3(ALDH5A1):c.205T>C (p.Trp69Arg)	ALDH5A1, GPLD1 +1 more (W69R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1422649	NM_001080.3(ALDH5A1):c.250G>A (p.Gly84Ser)	ALDH5A1, GPLD1 +1 more (G84S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance

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