"PreventionGenetics, part of Exact Sciences"[submitter] AND "ALDH4A1"[ - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052513	NM_003748.4(ALDH4A1):c.*10G>T	ALDH4A1	Single nucleotide variant (3 prime UTR variant)	ALDH4A1-related disorder	GLikely benign
Select item 1334961	NM_003748.4(ALDH4A1):c.1650A>G (p.Thr550=)	ALDH4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3031069	NM_003748.4(ALDH4A1):c.1488G>A (p.Val496=)	ALDH4A1	Single nucleotide variant (synonymous variant)	ALDH4A1-related disorder	GLikely benign
Select item 294367	NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)	ALDH4A1, LOC120893116 (V470I +2 more)	Single nucleotide variant (missense variant)	ALDH4A1-related disorder +1 more	GBenign
Select item 703507	NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)	ALDH4A1, LOC120893116 (K411T +2 more)	Single nucleotide variant (missense variant)	ALDH4A1-related disorder +1 more	GBenign/Likely benign
Select item 294372	NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)	ALDH4A1 (C421R +1 more)	Single nucleotide variant (missense variant +1 more)	ALDH4A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 294381	NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)	ALDH4A1 (H358R +1 more)	Single nucleotide variant (missense variant)	ALDH4A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 876208	NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)	ALDH4A1 (R187L +1 more)	Single nucleotide variant (missense variant)	ALDH4A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3053996	NM_003748.4(ALDH4A1):c.679-7C>T	ALDH4A1	Single nucleotide variant (intron variant)	ALDH4A1-related disorder	GLikely benign
Select item 294384	NM_003748.4(ALDH4A1):c.678+3G>A	ALDH4A1	Single nucleotide variant (intron variant)	ALDH4A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 702554	NM_003748.4(ALDH4A1):c.483C>T (p.Asp161=)	ALDH4A1	Single nucleotide variant (synonymous variant)	ALDH4A1-related disorder +1 more	GLikely benign
Select item 3036753	NM_003748.4(ALDH4A1):c.453+10_453+13del	ALDH4A1	Deletion (intron variant)	ALDH4A1-related disorder	GLikely benign
Select item 3047006	NM_003748.4(ALDH4A1):c.453+10T>G	ALDH4A1	Single nucleotide variant (intron variant)	ALDH4A1-related disorder	GLikely benign
Select item 294391	NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)	ALDH4A1 (P138L +1 more)	Single nucleotide variant (missense variant)	Hyperprolinemia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 3053449	NM_003748.4(ALDH4A1):c.87C>T (p.Ser29=)	ALDH4A1	Single nucleotide variant (5 prime UTR variant +1 more)	ALDH4A1-related disorder	GLikely benign
Select item 294395	NM_003748.4(ALDH4A1):c.-4C>A	LOC129929550, ALDH4A1	Single nucleotide variant (5 prime UTR variant)	ALDH4A1-related disorder +1 more	GBenign/Likely benign
Select item 294396	NM_003748.4(ALDH4A1):c.-7A>G	ALDH4A1, LOC129929550	Single nucleotide variant (5 prime UTR variant)	ALDH4A1-related disorder +1 more	GBenign/Likely benign