"Eurofins Ntd Llc (ga)"[submitter] AND "GPLD1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288703	NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)	ALDH5A1, GPLD1 +1 more (C4G)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +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