C0268631[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 449408	NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)	ALDH5A1, GPLD1 +1 more (C93F)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GPathogenic
Select item 356128	NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)	ALDH5A1, LOC129995978 (A98G)	Single nucleotide variant (missense variant)	not provided +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 1357	NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)	ALDH5A1 (W204*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1323875	NM_001080.3(ALDH5A1):c.665del (p.Gly222fs)	ALDH5A1 (G222fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely pathogenic
Select item 959632	NM_001080.3(ALDH5A1):c.1015-2A>C	ALDH5A1	Single nucleotide variant (splice acceptor variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1359	NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	ALDH5A1 (G409D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 529480	NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys)	ALDH5A1 (E507K +2 more)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 381590	NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln)	ALDH5A1	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance