Related gene-specific medical variations for Gene (Select 2194) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2983153	NM_004104.5(FASN):c.7283G>A (p.Arg2428His)	FASN, LOC129390948 (R2428H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2956675	NM_004104.5(FASN):c.7245G>A (p.Glu2415=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2902264	NM_004104.5(FASN):c.7219A>T (p.Ser2407Cys)	FASN, LOC129390948 (S2407C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2889707	NM_004104.5(FASN):c.7198G>A (p.Ala2400Thr)	FASN, LOC129390948 (A2400T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2832211	NM_004104.5(FASN):c.7189G>C (p.Val2397Leu)	FASN, LOC129390948 (V2397L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2769936	NM_004104.5(FASN):c.7301C>T (p.Thr2434Ile)	FASN, LOC129390948 (T2434I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2754726	NM_004104.5(FASN):c.7244A>T (p.Glu2415Val)	FASN, LOC129390948 (E2415V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2724073	NM_004104.5(FASN):c.7196C>G (p.Ala2399Gly)	FASN, LOC129390948 (A2399G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2689046	NM_004104.5(FASN):c.4409+1G>A	FASN	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2689045	NM_004104.5(FASN):c.6818G>A (p.Cys2273Tyr)	FASN (C2273Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689044	NM_004104.5(FASN):c.3815C>T (p.Ala1272Val)	FASN (A1272V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2621457	NM_004104.5(FASN):c.7213A>G (p.Ile2405Val)	FASN, LOC129390948 (I2405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530489	NM_004104.5(FASN):c.7204G>A (p.Asp2402Asn)	FASN, LOC129390948 (D2402N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244655	NM_004104.5(FASN):c.7249A>C (p.Ser2417Arg)	FASN, LOC129390948 (S2417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183771	NM_004104.5(FASN):c.7256C>T (p.Ala2419Val)	FASN, LOC129390948 (A2419V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2165204	NM_004104.5(FASN):c.7310C>T (p.Ala2437Val)	FASN, LOC129390948 (A2437V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2074130	NM_004104.5(FASN):c.7350G>A (p.Thr2450=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1965273	NM_004104.5(FASN):c.7269C>A (p.Phe2423Leu)	FASN, LOC129390948 (F2423L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1943195	NM_004104.5(FASN):c.7341C>A (p.Arg2447=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1909245	NM_004104.5(FASN):c.7182G>A (p.Glu2394=)	LOC129390948, FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1662247	NM_004104.5(FASN):c.7203G>A (p.Val2401=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1586097	NM_004104.5(FASN):c.7257G>C (p.Ala2419=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1564021	NM_004104.5(FASN):c.7341C>T (p.Arg2447=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1560852	NM_004104.5(FASN):c.7158G>A (p.Ala2386=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1543525	NM_004104.5(FASN):c.7164G>T (p.Leu2388=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1523494	NM_004104.5(FASN):c.7332G>A (p.Met2444Ile)	FASN, LOC129390948 (M2444I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1481856	NM_004104.5(FASN):c.7323C>T (p.Gly2441=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GUncertain significance
Select item 1481358	NM_004104.5(FASN):c.7282C>T (p.Arg2428Cys)	FASN, LOC129390948 (R2428C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1424681	NM_004104.5(FASN):c.7262G>A (p.Arg2421Gln)	FASN, LOC129390948 (R2421Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1418396	NM_004104.5(FASN):c.7327G>A (p.Val2443Met)	FASN, LOC129390948 (V2443M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1409923	NM_004104.5(FASN):c.7222C>T (p.His2408Tyr)	FASN, LOC129390948 (H2408Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1388888	NM_004104.5(FASN):c.7237C>T (p.Arg2413Cys)	FASN, LOC129390948 (R2413C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1380974	NM_004104.5(FASN):c.7259C>T (p.Ala2420Val)	FASN, LOC129390948 (A2420V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1325602	NM_004104.5(FASN):c.658_659delinsTACTGCC (p.Asn220fs)	FASN (N220fs)	Indel (frameshift variant)	Seizure	GUncertain significance
Select item 1154785	NM_004104.5(FASN):c.7287C>T (p.Ala2429=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1130493	NM_004104.5(FASN):c.7326C>T (p.Asn2442=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1127026	NM_004104.5(FASN):c.7356C>A (p.Gly2452=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1085450	NM_004104.5(FASN):c.7356C>T (p.Gly2452=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1061441	NM_004104.5(FASN):c.7325A>G (p.Asn2442Ser)	FASN, LOC129390948 (N2442S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1014286	NM_004104.5(FASN):c.7250G>A (p.Ser2417Asn)	FASN, LOC129390948 (S2417N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1008829	NM_004104.5(FASN):c.7238G>A (p.Arg2413His)	FASN, LOC129390948 (R2413H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 992775	NM_004104.5(FASN):c.3032C>T (p.Ala1011Val)	FASN (A1011V)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 945411	NM_004104.5(FASN):c.7261C>T (p.Arg2421Trp)	FASN, LOC129390948 (R2421W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 942196	NM_004104.5(FASN):c.7202T>C (p.Val2401Ala)	FASN, LOC129390948 (V2401A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 854765	NM_004104.5(FASN):c.7342G>A (p.Ala2448Thr)	FASN, LOC129390948 (A2448T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 747461	NM_004104.5(FASN):c.7266C>T (p.Ser2422=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 708054	NM_004104.5(FASN):c.7191G>A (p.Val2397=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 707154	NM_004104.5(FASN):c.7157C>T (p.Ala2386Val)	FASN, LOC129390948 (A2386V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
Select item 664907	NM_004104.5(FASN):c.7349C>T (p.Thr2450Met)	FASN, LOC129390948 (T2450M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 663774	NM_004104.5(FASN):c.7229G>A (p.Gly2410Asp)	FASN, LOC129390948 (G2410D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531101	NM_004104.5(FASN):c.7169T>G (p.Leu2390Arg)	FASN, LOC129390948 (L2390R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
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 462107	NM_004104.5(FASN):c.7197C>T (p.Ala2399=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 462106	NM_004104.5(FASN):c.7167G>A (p.Pro2389=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GBenign

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Items: 55