7915[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
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 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 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 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 288703	NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)	ALDH5A1, GPLD1 +1 more (C4G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 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 529496	NM_001080.3(ALDH5A1):c.21G>A (p.Leu7=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
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 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 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 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 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)	not provided +2 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 1564590	NM_001080.3(ALDH5A1):c.42C>T (p.Arg14=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 837332	NM_001080.3(ALDH5A1):c.44T>G (p.Leu15Arg)	GPLD1, LOC129995978 +1 more (L15R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	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 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 284542	NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu)	ALDH5A1, GPLD1 +1 more (S17L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 529491	NM_001080.3(ALDH5A1):c.51G>A (p.Ser17=)	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 732290	NM_001080.3(ALDH5A1):c.54G>T (p.Thr18=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2005503	NM_001080.3(ALDH5A1):c.56T>C (p.Phe19Ser)	GPLD1, LOC129995978 +1 more (F19S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1062221	NM_001080.3(ALDH5A1):c.58C>G (p.Pro20Ala)	ALDH5A1, GPLD1 +1 more (P20A)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 459991	NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp)	ALDH5A1, GPLD1 +1 more (G21D)	Single nucleotide variant (missense 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 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 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 2038984	NM_001080.3(ALDH5A1):c.79del (p.Arg27fs)	ALDH5A1, GPLD1 +1 more (R27fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
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 1112924	NM_001080.3(ALDH5A1):c.75C>A (p.Arg25=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
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 1368215	NM_001080.3(ALDH5A1):c.79C>T (p.Arg27Cys)	ALDH5A1, GPLD1 +1 more (R27C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	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 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 1006466	NM_001080.3(ALDH5A1):c.80G>A (p.Arg27His)	ALDH5A1, GPLD1 +1 more (R27H)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1046580	NM_001080.3(ALDH5A1):c.82G>A (p.Ala28Thr)	ALDH5A1, GPLD1 +1 more (A28T)	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 859631	NM_001080.3(ALDH5A1):c.86G>C (p.Gly29Ala)	ALDH5A1, GPLD1 +1 more (G29A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 665406	NM_001080.3(ALDH5A1):c.86G>A (p.Gly29Asp)	LOC129995978, ALDH5A1 +1 more (G29D)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 757013	NM_001080.3(ALDH5A1):c.87C>T (p.Gly29=)	ALDH5A1, GPLD1 +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 859848	NM_001080.3(ALDH5A1):c.88G>A (p.Gly30Ser)	ALDH5A1, GPLD1 +1 more (G30S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 717022	NM_001080.3(ALDH5A1):c.93G>T (p.Leu31=)	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 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 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 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 596498	NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)	ALDH5A1, LOC129995978 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
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 582120	NM_001080.3(ALDH5A1):c.104_127del (p.Ser35_Gln43delinsTer)	ALDH5A1, GPLD1 +1 more	Deletion (nonsense)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
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 285783	NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)	ALDH5A1, GPLD1 +1 more (G36R)	Single nucleotide variant (missense variant)	ALDH5A1-related disorder +3 more	GBenign
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 975484	NM_001080.3(ALDH5A1):c.109C>G (p.Pro37Ala)	ALDH5A1, GPLD1 +1 more (P37A)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 936181	NM_001080.3(ALDH5A1):c.110C>T (p.Pro37Leu)	LOC129995978, ALDH5A1 +1 more (P37L)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
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 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 906470	NM_001080.3(ALDH5A1):c.112G>A (p.Ala38Thr)	ALDH5A1, GPLD1 +1 more (A38T)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 964314	NM_001080.3(ALDH5A1):c.123_127dup (p.Gln43fs)	ALDH5A1, GPLD1 +1 more (Q43fs)	Microsatellite (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
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 952923	NM_001080.3(ALDH5A1):c.115C>G (p.Pro39Ala)	ALDH5A1, GPLD1 +1 more (P39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 529479	NM_001080.3(ALDH5A1):c.116C>G (p.Pro39Arg)	ALDH5A1, GPLD1 +1 more (P39R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1083838	NM_001080.3(ALDH5A1):c.117C>T (p.Pro39=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 797682	NM_001080.3(ALDH5A1):c.117C>G (p.Pro39=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 665260	NM_001080.3(ALDH5A1):c.118G>C (p.Gly40Arg)	LOC129995978, ALDH5A1 +1 more (G40R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
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 1398257	NM_001080.3(ALDH5A1):c.122C>T (p.Pro41Leu)	ALDH5A1, GPLD1 +1 more (P41L)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 284718	NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1128393	NM_001080.3(ALDH5A1):c.126C>T (p.Ala42=)	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 356126	NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)	LOC129995978, ALDH5A1 +1 more (L44V)	Single nucleotide variant (missense variant)	ALDH5A1-related disorder +2 more	GBenign/Likely benign
Select item 857927	NM_001080.3(ALDH5A1):c.133C>A (p.Arg45Ser)	LOC129995978, ALDH5A1 +1 more (R45S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1351910	NM_001080.3(ALDH5A1):c.136T>C (p.Cys46Arg)	ALDH5A1, GPLD1 +1 more (C46R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 665302	NM_001080.3(ALDH5A1):c.137G>A (p.Cys46Tyr)	ALDH5A1, GPLD1 +1 more (C46Y)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1126185	NM_001080.3(ALDH5A1):c.138C>T (p.Cys46=)	GPLD1, LOC129995978 +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 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 459980	NM_001080.3(ALDH5A1):c.147G>T (p.Gly49=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous 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 288584	NM_001080.3(ALDH5A1):c.154G>A (p.Ala52Thr)	ALDH5A1, GPLD1 +1 more (A52T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 967924	NM_001080.3(ALDH5A1):c.155C>A (p.Ala52Glu)	ALDH5A1, GPLD1 +1 more (A52E)	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 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 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 1878470	NM_001080.3(ALDH5A1):c.164_165del (p.Ser55fs)	ALDH5A1, GPLD1 +1 more (S55fs)	Microsatellite (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic

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