"PreventionGenetics, part of Exact Sciences"[submitter] AND "ALDH7A1"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194825	NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)	ALDH7A1 (T523A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 374140	NM_001182.5(ALDH7A1):c.1566-1G>T	ALDH7A1	Single nucleotide variant (splice acceptor variant)	Ventriculomegaly +5 more	GPathogenic
Select item 1135314	NM_001182.5(ALDH7A1):c.1362A>G (p.Gly454=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +1 more	GLikely benign
Select item 128346	NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln)	ALDH7A1 (K439Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 136376	NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=)	ALDH7A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 565889	NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly)	ALDH7A1 (A388G +1 more)	Single nucleotide variant (missense variant +1 more)	ALDH7A1-related disorder +2 more	GUncertain significance
Select item 697062	NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	ALDH7A1-related disorder +2 more	GBenign/Likely benign
Select item 512385	NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 388986	NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 136372	NM_001182.5(ALDH7A1):c.774-18G>A	ALDH7A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1145683	NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 128349	NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=)	ALDH7A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 136368	NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 265033	NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met)	ALDH7A1 (T192M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257610	NM_001182.5(ALDH7A1):c.518-12T>G	ALDH7A1	Single nucleotide variant (intron variant)	Pyridoxine-dependent epilepsy +2 more	GBenign
Select item 593724	NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=)	ALDH7A1	Single nucleotide variant (synonymous variant)	Pyridoxine-dependent epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 128347	NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=)	ALDH7A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 136379	NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 350589	NM_001182.4(ALDH7A1):c.-80T>G	ALDH7A1	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity