"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACSL4"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040810	NM_001318510.2(ACSL4):c.1891C>T (p.Arg631Ter)	ACSL4 (R631* +1 more)	Single nucleotide variant (nonsense)	ACSL4-related disorder	GUncertain significance
Select item 434072	NM_001318510.2(ACSL4):c.1698-10G>A	ACSL4	Single nucleotide variant (intron variant)	ACSL4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2204097	NM_001318510.2(ACSL4):c.1508A>G (p.Asp503Gly)	ACSL4 (D503G +1 more)	Single nucleotide variant (missense variant)	ACSL4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1325550	NM_001318510.2(ACSL4):c.1502C>A (p.Ser501Tyr)	ACSL4 (S501Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63 +1 more	GUncertain significance
Select item 194058	NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)	ACSL4 (Y483C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 982673	NM_001318510.2(ACSL4):c.516+8T>G	ACSL4	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 63 +1 more	GLikely benign
Select item 3029713	NM_001318510.2(ACSL4):c.120A>T (p.Lys40Asn)	ACSL4 (K40N +1 more)	Single nucleotide variant (missense variant)	ACSL4-related disorder	GUncertain significance
Select item 3037160	NM_001318510.2(ACSL4):c.-12-40C>T	ACSL4	Single nucleotide variant (synonymous variant +1 more)	ACSL4-related disorder	GBenign