"Eurofins Ntd Llc (ga)"[submitter] AND "ALDH5A1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288703	NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)	LOC129995978, ALDH5A1 +1 more (C4G)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 597221	NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)	ALDH5A1, GPLD1 +1 more (G11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 596498	NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 285783	NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)	GPLD1, LOC129995978 +1 more (G36R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +2 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 284718	NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
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 595499	NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499425	NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile)	ALDH5A1, GPLD1 +1 more (S63I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 593458	NM_001080.3(ALDH5A1):c.354+10C>T	ALDH5A1, LOC129995978	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 286878	NM_001080.3(ALDH5A1):c.354+14G>A	ALDH5A1, LOC129995978	Single nucleotide variant (intron variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 284326	NM_001080.3(ALDH5A1):c.355-9C>G	ALDH5A1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 128343	NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)	ALDH5A1 (H180Y)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 128344	NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)	ALDH5A1 (P182L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 289419	NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=)	ALDH5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356132	NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)	ALDH5A1 (V197M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 218854	NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)	ALDH5A1 (A237S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 284072	NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)	ALDH5A1 (V321M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 284207	NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 286690	NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)	ALDH5A1 (V413I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 459976	NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser)	ALDH5A1 (N440S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 579979	NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln)	ALDH5A1 (H436Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595206	NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs)	ALDH5A1 (P442fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 287090	NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)	ALDH5A1 (D463N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 287826	NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=)	ALDH5A1	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GBenign
Select item 284596	NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=)	ALDH5A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Items: 29