ClinVar for MedGen (Select 124340) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2997390	NM_001080.3(ALDH5A1):c.921G>C (p.Leu307=)	ALDH5A1	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 2980158	NM_001080.3(ALDH5A1):c.366A>G (p.Ser122=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2979985	NM_001080.3(ALDH5A1):c.1403-6T>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
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 2962944	NM_001080.3(ALDH5A1):c.355-18T>A	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2962496	NM_001080.3(ALDH5A1):c.564C>T (p.Ala188=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2919570	NM_001080.3(ALDH5A1):c.699G>A (p.Thr233=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2916531	NM_001080.3(ALDH5A1):c.354+23_354+24dup	ALDH5A1	Duplication (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2913005	NM_001080.3(ALDH5A1):c.1590G>C (p.Val530=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2894855	NM_001080.3(ALDH5A1):c.1344-4G>A	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2878028	NM_001080.3(ALDH5A1):c.375G>A (p.Arg125=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2878027	NM_001080.3(ALDH5A1):c.374_375insTGGTACAATTTAATGATAC (p.Arg125_Lys126insGlyThrIleTer)	ALDH5A1	Insertion (nonsense +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2872462	NM_001080.3(ALDH5A1):c.439-13T>C	ALDH5A1	Single nucleotide variant (intron 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 2842590	NM_001080.3(ALDH5A1):c.439-18T>C	ALDH5A1	Single nucleotide variant (intron 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 2821768	NM_001080.3(ALDH5A1):c.354+18C>T	ALDH5A1	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 2819069	NM_001080.3(ALDH5A1):c.1518A>T (p.Gly506=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2818997	NM_001080.3(ALDH5A1):c.936A>G (p.Pro312=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2814870	NM_001080.3(ALDH5A1):c.768T>C (p.Val256=)	ALDH5A1	Single nucleotide variant (synonymous variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2811555	NM_001080.3(ALDH5A1):c.355-16G>A	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2808710	NM_001080.3(ALDH5A1):c.1173+10T>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2807148	NM_001080.3(ALDH5A1):c.726+11C>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2802958	NM_001080.3(ALDH5A1):c.1343+20G>T	ALDH5A1	Single nucleotide variant (intron 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 2796000	NM_001080.3(ALDH5A1):c.567G>C (p.Leu189=)	ALDH5A1	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 2778057	NM_001080.3(ALDH5A1):c.610-12T>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2776015	NM_001080.3(ALDH5A1):c.1402+2T>C	ALDH5A1	Single nucleotide variant (splice donor variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2772579	NM_001080.3(ALDH5A1):c.1273C>T (p.Leu425=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2772119	NM_001080.3(ALDH5A1):c.424del (p.Ile142fs)	ALDH5A1 (I142fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2761962	NM_001080.3(ALDH5A1):c.870+8A>T	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
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 2743352	NM_001080.3(ALDH5A1):c.1001G>T (p.Arg334Met)	ALDH5A1 (R334M +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2742430	NM_001080.3(ALDH5A1):c.172C>T (p.Leu58=)	GPLD1, LOC129995978 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2735963	NM_001080.3(ALDH5A1):c.388T>C (p.Leu130=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2733320	NM_001080.3(ALDH5A1):c.966C>T (p.Asp322=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2729869	NM_001080.3(ALDH5A1):c.355-19C>T	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2729183	NM_001080.3(ALDH5A1):c.1403-10C>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2726242	NM_001080.3(ALDH5A1):c.1116T>C (p.Asn372=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2724610	NM_001080.3(ALDH5A1):c.753A>C (p.Ser251=)	ALDH5A1	Single nucleotide variant (synonymous variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2720253	NM_001080.3(ALDH5A1):c.1344-7T>C	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2713462	NM_001080.3(ALDH5A1):c.913A>G (p.Met305Val)	ALDH5A1 (M305V +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2698474	NM_001080.3(ALDH5A1):c.375G>C (p.Arg125=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2694258	NM_001080.3(ALDH5A1):c.1173+1G>T	ALDH5A1	Single nucleotide variant (splice donor variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
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 2570591	NM_001080.3(ALDH5A1):c.1163C>A (p.Ala388Glu)	ALDH5A1 (A388E +2 more)	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 2423634	NC_000006.11:g.(?_24495225)_(24523173_?)dup	ALDH5A1	Duplication	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2423633	NC_000006.11:g.(?_24505077)_(24533940_?)del	ALDH5A1	Deletion	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 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 2174206	NM_001080.3(ALDH5A1):c.1390G>A (p.Val464Ile)	ALDH5A1 (V477I +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2171157	NM_001080.3(ALDH5A1):c.539A>G (p.His180Arg)	ALDH5A1 (H180R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2168098	NM_001080.3(ALDH5A1):c.929T>G (p.Leu310Arg)	ALDH5A1 (L310R +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2167123	NM_001080.3(ALDH5A1):c.1551C>A (p.Ser517=)	ALDH5A1	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 2156253	NM_001080.3(ALDH5A1):c.1550C>G (p.Ser517Cys)	ALDH5A1 (S517C +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2154996	NM_001080.3(ALDH5A1):c.934C>G (p.Pro312Ala)	ALDH5A1 (P325A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2150568	NM_001080.3(ALDH5A1):c.638G>A (p.Arg213Gln)	ALDH5A1 (R213Q)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2146117	NM_001080.3(ALDH5A1):c.610-4C>G	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2143391	NM_001080.3(ALDH5A1):c.1289A>G (p.Gln430Arg)	ALDH5A1 (Q443R +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2143005	NM_001080.3(ALDH5A1):c.1104G>A (p.Leu368=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2142912	NM_001080.3(ALDH5A1):c.727-15_727-14inv	ALDH5A1	Inversion (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2140294	NM_001080.3(ALDH5A1):c.438+11G>A	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2137418	NM_001080.3(ALDH5A1):c.1402+13C>T	ALDH5A1	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2136369	NM_001080.3(ALDH5A1):c.438+1G>A	ALDH5A1	Single nucleotide variant (splice donor variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 2132241	NM_001080.3(ALDH5A1):c.1344-3C>T	ALDH5A1	Single nucleotide variant (intron 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 2127631	NM_001080.3(ALDH5A1):c.826C>G (p.Leu276Val)	ALDH5A1 (L276V +1 more)	Single nucleotide variant (missense variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2126780	NM_001080.3(ALDH5A1):c.610-17T>A	ALDH5A1	Single nucleotide variant (intron 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 2116560	NM_001080.3(ALDH5A1):c.1247G>A (p.Gly416Glu)	ALDH5A1 (G429E +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2116118	NM_001080.3(ALDH5A1):c.1064C>T (p.Ala355Val)	ALDH5A1 (A368V +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
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

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