"PreventionGenetics, part of Exact Sciences"[submitter] AND "FASN"[gen - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 531118	NM_004104.5(FASN):c.7491C>A (p.Ile2497=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 531150	NM_004104.5(FASN):c.7407C>T (p.Asp2469=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 462111	NM_004104.5(FASN):c.7398+4C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 2635814	NM_004104.5(FASN):c.7244A>G (p.Glu2415Gly)	FASN, LOC129390948 (E2415G)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 531092	NM_004104.5(FASN):c.7192G>T (p.Ala2398Ser)	FASN, LOC129390948 (A2398S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 531101	NM_004104.5(FASN):c.7169T>G (p.Leu2390Arg)	FASN, LOC129390948 (L2390R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 2631390	NM_004104.5(FASN):c.7073G>A (p.Gly2358Asp)	FASN (G2358D)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 2633858	NM_004104.5(FASN):c.6861_6876del (p.Tyr2288fs)	FASN (Y2288fs)	Deletion (frameshift variant)	FASN-related disorder	GUncertain significance
Select item 2895280	NM_004104.5(FASN):c.6840C>T (p.Asp2280=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 1154958	NM_004104.5(FASN):c.6708C>T (p.Ser2236=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 662123	NM_004104.5(FASN):c.6678G>A (p.Pro2226=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 2633229	NM_004104.5(FASN):c.6605G>A (p.Cys2202Tyr)	FASN (C2202Y)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 1397381	NM_004104.5(FASN):c.6531C>T (p.Arg2177=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 531122	NM_004104.5(FASN):c.6373C>T (p.Arg2125Trp)	FASN (R2125W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 3036218	NM_004104.5(FASN):c.6196G>A (p.Val2066Met)	FASN (V2066M)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 462092	NM_004104.5(FASN):c.6164-8C>G	FASN	Single nucleotide variant (intron variant)	FASN-related disorder +1 more	GBenign
Select item 766847	NM_004104.5(FASN):c.6146G>A (p.Arg2049Gln)	FASN (R2049Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 462090	NM_004104.5(FASN):c.6118G>T (p.Ala2040Ser)	FASN (A2040S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 462087	NM_004104.5(FASN):c.6012-10G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 749677	NM_004104.5(FASN):c.5877G>A (p.Ala1959=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 462083	NM_004104.5(FASN):c.5872G>A (p.Glu1958Lys)	FASN (E1958K)	Single nucleotide variant (missense variant)	FASN-related disorder +1 more	GBenign
Select item 770045	NM_004104.5(FASN):c.5800C>T (p.Arg1934Cys)	FASN (R1934C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GLikely benign
Select item 793879	NM_004104.5(FASN):c.5643C>T (p.Cys1881=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 753206	NM_004104.5(FASN):c.5487G>A (p.Thr1829=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 2629795	NM_004104.5(FASN):c.5462G>T (p.Gly1821Val)	FASN (G1821V)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 531176	NM_004104.5(FASN):c.5412T>A (p.Ser1804Arg)	FASN (S1804R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 462069	NM_004104.5(FASN):c.5337G>A (p.Pro1779=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 707532	NM_004104.5(FASN):c.5285C>T (p.Thr1762Met)	FASN (T1762M)	Single nucleotide variant (missense variant)	FASN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 462066	NM_004104.5(FASN):c.5259G>A (p.Leu1753=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +2 more	GBenign/Likely benign
Select item 3051306	NM_004104.5(FASN):c.5219-2A>G	FASN	Single nucleotide variant (splice acceptor variant)	FASN-related disorder	GUncertain significance
Select item 662717	NM_004104.5(FASN):c.5113C>T (p.Arg1705Trp)	FASN (R1705W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GUncertain significance
Select item 531153	NM_004104.5(FASN):c.5094C>T (p.Thr1698=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 772076	NM_004104.5(FASN):c.5001C>T (p.Pro1667=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 1039618	NM_004104.5(FASN):c.4991G>A (p.Arg1664Gln)	FASN (R1664Q)	Single nucleotide variant (missense variant)	FASN-related disorder +1 more	GUncertain significance
Select item 771254	NM_004104.5(FASN):c.4896C>T (p.Phe1632=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GBenign/Likely benign
Select item 1143301	NM_004104.5(FASN):c.4584G>A (p.Thr1528=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 462058	NM_004104.5(FASN):c.4578G>A (p.Glu1526=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GBenign
Select item 1091018	NM_004104.5(FASN):c.4197G>A (p.Thr1399=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 462052	NM_004104.5(FASN):c.4188C>T (p.Tyr1396=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 531140	NM_004104.5(FASN):c.4128G>A (p.Ala1376=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 531114	NM_004104.5(FASN):c.4123-10G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 462048	NM_004104.5(FASN):c.3974C>T (p.Pro1325Leu)	FASN (P1325L)	Single nucleotide variant (missense variant)	FASN-related disorder +1 more	GBenign/Likely benign
Select item 462045	NM_004104.5(FASN):c.3829C>G (p.Pro1277Ala)	FASN (P1277A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 462042	NM_004104.5(FASN):c.3682C>T (p.Leu1228=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1588912	NM_004104.5(FASN):c.3648C>T (p.Ser1216=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 2629625	NM_004104.5(FASN):c.3647G>T (p.Ser1216Ile)	FASN (S1216I)	Single nucleotide variant (missense variant)	FASN-related disorder	GUncertain significance
Select item 707281	NM_004104.5(FASN):c.3555C>G (p.Ala1185=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +2 more	GBenign/Likely benign
Select item 3060770	NM_004104.5(FASN):c.3429G>C (p.Gly1143=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder	GLikely benign
Select item 531083	NM_004104.5(FASN):c.3232G>A (p.Val1078Met)	FASN (V1078M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 462032	NM_004104.5(FASN):c.3186C>T (p.His1062=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 462030	NM_004104.5(FASN):c.2815G>A (p.Glu939Lys)	FASN (E939K)	Single nucleotide variant (missense variant)	FASN-related disorder +2 more	GBenign/Likely benign
Select item 1143997	NM_004104.5(FASN):c.2786-9G>A	FASN	Single nucleotide variant (intron variant)	FASN-related disorder +1 more	GLikely benign
Select item 462029	NM_004104.5(FASN):c.2757G>A (p.Leu919=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 3046821	NM_004104.5(FASN):c.2733T>C (p.Pro911=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder	GLikely benign
Select item 710513	NM_004104.5(FASN):c.2694G>A (p.Thr898=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 1961268	NM_004104.5(FASN):c.2647C>T (p.Arg883Cys)	FASN (R883C)	Single nucleotide variant (missense variant)	FASN-related disorder +1 more	GUncertain significance
Select item 3031397	NM_004104.5(FASN):c.2594-9C>G	FASN	Single nucleotide variant (intron variant)	FASN-related disorder	GLikely benign
Select item 759306	NM_004104.5(FASN):c.2427C>T (p.Asp809=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 1119059	NM_004104.5(FASN):c.2305-9C>T	FASN	Single nucleotide variant (intron variant)	FASN-related disorder +1 more	GLikely benign
Select item 3031127	NM_004104.5(FASN):c.2304+6C>A	FASN	Single nucleotide variant (intron variant)	FASN-related disorder	GLikely benign
Select item 462019	NM_004104.5(FASN):c.2187G>A (p.Thr729=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 767229	NM_004104.5(FASN):c.2120C>T (p.Pro707Leu)	FASN (P707L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 462013	NM_004104.5(FASN):c.1968C>T (p.Ala656=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 462012	NM_004104.5(FASN):c.1850C>T (p.Pro617Leu)	FASN (P617L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 462005	NM_004104.5(FASN):c.1465G>A (p.Glu489Lys)	FASN (E489K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 462002	NM_004104.5(FASN):c.1436G>T (p.Gly479Val)	FASN (G479V)	Single nucleotide variant (missense variant)	FASN-related disorder +2 more	GBenign/Likely benign
Select item 462000	NM_004104.5(FASN):c.1230G>A (p.Pro410=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 575765	NM_004104.5(FASN):c.1024G>T (p.Ala342Ser)	FASN (A342S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 531084	NM_004104.5(FASN):c.966C>T (p.Ile322=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 1086080	NM_004104.5(FASN):c.840C>T (p.Ala280=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 531031	NM_004104.5(FASN):c.820C>T (p.Arg274Cys)	FASN (R274C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 462108	NM_004104.5(FASN):c.729C>T (p.Tyr243=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GLikely benign
Select item 3046549	NM_004104.5(FASN):c.705G>A (p.Lys235=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder	GLikely benign
Select item 462105	NM_004104.5(FASN):c.694C>T (p.Leu232=)	FASN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 462095	NM_004104.5(FASN):c.624C>T (p.Pro208=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GBenign
Select item 531089	NM_004104.5(FASN):c.463A>G (p.Ile155Val)	FASN (I155V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1005781	NM_004104.5(FASN):c.102G>A (p.Thr34=)	FASN	Single nucleotide variant (synonymous variant)	FASN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 767460	NM_004104.5(FASN):c.48G>A (p.Ser16=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign

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Items: 78