ClinVar for MedGen (Select 337002) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661913	NM_001318510.2(ACSL4):c.1450A>C (p.Asn484His)	ACSL4 (N484H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	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 1805575	NM_001318510.2(ACSL4):c.468G>T (p.Glu156Asp)	ACSL4 (E156D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 1710150	NM_001318510.2(ACSL4):c.257del (p.Asn86fs)	ACSL4 (N127fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 1709879	NM_001318510.2(ACSL4):c.1072_1073del (p.Leu358fs)	ACSL4 (L358fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 1696650	NM_001318510.2(ACSL4):c.1698-3dup	ACSL4	Duplication (intron variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 1691846	NM_001318510.2(ACSL4):c.1653_1654insT (p.Lys552Ter)	ACSL4 (K552* +1 more)	Insertion (nonsense)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 1675197	NM_001318510.2(ACSL4):c.802del (p.Leu268fs)	ACSL4 (L268fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 63	GPathogenic
Select item 1338218	NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met)	ACSL4 (I30M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63 +2 more	GConflicting classifications of pathogenicity
Select item 1332791	NM_001318510.2(ACSL4):c.151AAG[1] (p.Lys52del)	ACSL4 (K52del +1 more)	Microsatellite (inframe_deletion)	Intellectual disability, X-linked 63	GUncertain significance
Select item 1325550	NM_001318510.2(ACSL4):c.1502C>A (p.Ser501Tyr)	ACSL4 (S501Y +1 more)	Single nucleotide variant (missense variant)	ACSL4-related condition +1 more	GUncertain significance
Select item 1314174	NM_001318510.2(ACSL4):c.812A>G (p.Lys271Arg)	ACSL4 (K271R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1248470	NM_001318510.2(ACSL4):c.517-24dup	ACSL4	Duplication (intron variant)	Intellectual disability, X-linked 63 +1 more	GBenign/Likely benign
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 1188942	NM_001318510.2(ACSL4):c.1697+31G>A	ACSL4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 982673	NM_001318510.2(ACSL4):c.516+8T>G	ACSL4	Single nucleotide variant (intron variant)	ACSL4-related condition +1 more	GLikely benign
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 931637	NM_001318510.2(ACSL4):c.1892G>A (p.Arg631Gln)	ACSL4 (R672Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807803	NM_001318510.2(ACSL4):c.68A>G (p.His23Arg)	ACSL4 (H64R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 520570	NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn)	ACSL4 (D521N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 11566	NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu)	ACSL4 (P375L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GPathogenic
Select item 11565	NM_001318510.2(ACSL4):c.1003-2A>G	ACSL4	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 63	GPathogenic
Select item 11564	NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser)	ACSL4 (R529S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GPathogenic

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Items: 26