Related gene-specific medical variations for Gene (Select 2182) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362695	NM_001318510.2(ACSL4):c.1315+1G>A	ACSL4	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 3360140	NM_001318510.2(ACSL4):c.476A>T (p.Tyr159Phe)	ACSL4 (Y159F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360064	NM_001318510.2(ACSL4):c.-12-7T>G	ACSL4 (N35K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359030	NM_001318510.2(ACSL4):c.1001del (p.Pro334fs)	ACSL4 (P334fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 3238777	NM_001318510.2(ACSL4):c.1051A>G (p.Met351Val)	ACSL4 (M351V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2685003	GRCh37/hg19 Xq23(chrX:108963654-109197403)x3	ACSL4	Copy number gain	not provided	GUncertain significance
Select item 2582432	NM_001318510.2(ACSL4):c.1846G>T (p.Ala616Ser)	ACSL4 (A616S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2442101	NM_001318510.2(ACSL4):c.-10G>T	ACSL4 (K38N)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2438829	NM_001318510.2(ACSL4):c.805G>T (p.Gly269Ter)	ACSL4 (G269* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2438828	NM_001318510.2(ACSL4):c.1028A>C (p.Asn343Thr)	ACSL4 (N343T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 1696650	NM_001318510.2(ACSL4):c.1698-3dup	ACSL4	Duplication (intron variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 1319634	NM_001318510.2(ACSL4):c.47G>T (p.Ser16Ile)	ACSL4 (S16I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213768	NM_001318510.2(ACSL4):c.1417A>G (p.Asn473Asp)	ACSL4 (N473D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 975171	NM_001318510.2(ACSL4):c.473C>A (p.Ser158Tyr)	ACSL4 (S158Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 686621	GRCh37/hg19 Xq23(chrX:108874790-108907052)x3	ACSL4	Copy number gain	not provided	GUncertain significance
Select item 548953	GRCh37/hg19 Xq23(chrX:108919564-108929311)	ACSL4	Copy number loss	Ischemic stroke +1 more	GPathogenic
Select item 445795	NM_001318510.2(ACSL4):c.1855+11A>G	ACSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign