FASN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1052690	NM_004104.5(FASN):c.7526G>A (p.Arg2509Gln)	FASN (R2509Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1158264	NM_004104.5(FASN):c.7521C>T (p.Ser2507=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2331257	NM_004104.5(FASN):c.7516G>A (p.Val2506Met)	FASN (V2506M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 771585	NM_004104.5(FASN):c.7515C>T (p.Arg2505=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3092951	NM_004104.5(FASN):c.7513C>T (p.Arg2505Cys)	FASN (R2505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 531156	NM_004104.5(FASN):c.7497C>T (p.Ser2499=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2862888	NM_004104.5(FASN):c.7496G>T (p.Ser2499Ile)	FASN (S2499I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531118	NM_004104.5(FASN):c.7491C>A (p.Ile2497=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1915482	NM_004104.5(FASN):c.7467C>T (p.Gly2489=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2716027	NM_004104.5(FASN):c.7449G>A (p.Thr2483=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1472230	NM_004104.5(FASN):c.7445G>A (p.Arg2482His)	FASN (R2482H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 2963434	NM_004104.5(FASN):c.7444C>T (p.Arg2482Cys)	FASN (R2482C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1552304	NM_004104.5(FASN):c.7443C>T (p.His2481=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 462112	NM_004104.5(FASN):c.7432G>A (p.Glu2478Lys)	FASN (E2478K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2877065	NM_004104.5(FASN):c.7431C>T (p.Ile2477=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1056571	NM_004104.5(FASN):c.7426G>A (p.Val2476Ile)	FASN (V2476I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 718113	NM_004104.5(FASN):c.7425C>T (p.His2475=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 849274	NM_004104.5(FASN):c.7420G>A (p.Val2474Ile)	FASN (V2474I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 3017169	NM_004104.5(FASN):c.7408G>A (p.Gly2470Arg)	FASN (G2470R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1376571	NM_004104.5(FASN):c.7408G>C (p.Gly2470Arg)	FASN (G2470R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
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 1094990	NM_004104.5(FASN):c.7404C>T (p.Cys2468=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 654131	NM_004104.5(FASN):c.7399G>A (p.Val2467Ile)	FASN (V2467I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1121119	NM_004104.5(FASN):c.7399-7C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1542848	NM_004104.5(FASN):c.7399-8C>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1588793	NM_004104.5(FASN):c.7399-13G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2781123	NM_004104.5(FASN):c.7399-14C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1671202	NM_004104.5(FASN):c.7399-14C>G	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1620905	NM_004104.5(FASN):c.7398+19G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1642335	NM_004104.5(FASN):c.7398+8A>C	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1140338	NM_004104.5(FASN):c.7398+8A>G	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 572854	NM_004104.5(FASN):c.7398+4C>G	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 462111	NM_004104.5(FASN):c.7398+4C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1109553	NM_004104.5(FASN):c.7380G>A (p.Ala2460=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3277737	NM_004104.5(FASN):c.7379C>T (p.Ala2460Val)	FASN (A2460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 462110	NM_004104.5(FASN):c.7378G>A (p.Ala2460Thr)	FASN (A2460T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 948340	NM_004104.5(FASN):c.7368G>C (p.Glu2456Asp)	FASN (E2456D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 863147	NM_004104.5(FASN):c.7366G>A (p.Glu2456Lys)	FASN (E2456K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1152268	NM_004104.5(FASN):c.7365C>G (p.Gly2455=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1060314	NM_004104.5(FASN):c.7365C>T (p.Gly2455=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GUncertain significance
Select item 719196	NM_004104.5(FASN):c.7362C>T (p.Tyr2454=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GBenign
Select item 1623532	NM_004104.5(FASN):c.7359C>A (p.Ala2453=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 462109	NM_004104.5(FASN):c.7357G>A (p.Ala2453Thr)	FASN (A2453T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 765715	NM_004104.5(FASN):c.7149G>T (p.Val2383=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2149192	NM_004104.5(FASN):c.7148T>C (p.Val2383Ala)	FASN (V2383A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1018862	NM_004104.5(FASN):c.7147-3C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 957893	NM_004104.5(FASN):c.7147-10G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 1351220	NM_004104.5(FASN):c.7147-11C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2138301	NM_004104.5(FASN):c.7147-14G>A	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1530257	NM_004104.5(FASN):c.7146+18C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1639072	NM_004104.5(FASN):c.7146+13C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1444493	NM_004104.5(FASN):c.7145G>C (p.Arg2382Thr)	FASN (R2382T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 853553	NM_004104.5(FASN):c.7135G>C (p.Glu2379Gln)	FASN (E2379Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2116915	NM_004104.5(FASN):c.7134G>A (p.Met2378Ile)	FASN (M2378I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1082516	NM_004104.5(FASN):c.7128G>A (p.Thr2376=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1355476	NM_004104.5(FASN):c.7127C>T (p.Thr2376Met)	FASN (T2376M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1573964	NM_004104.5(FASN):c.7125C>T (p.Phe2375=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 767585	NM_004104.5(FASN):c.7113C>T (p.Phe2371=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 958899	NM_004104.5(FASN):c.7104A>G (p.Ile2368Met)	FASN (I2368M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2595073	NM_004104.5(FASN):c.7102A>G (p.Ile2368Val)	FASN (I2368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1550038	NM_004104.5(FASN):c.7095G>A (p.Thr2365=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1966199	NM_004104.5(FASN):c.7094C>T (p.Thr2365Met)	FASN (T2365M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
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 2756679	NM_004104.5(FASN):c.7057G>A (p.Ala2353Thr)	FASN (A2353T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1378176	NM_004104.5(FASN):c.7048-3C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 1602377	NM_004104.5(FASN):c.7048-9T>C	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1674068	NM_004104.5(FASN):c.7048-15C>T	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2098967	NM_004104.5(FASN):c.7047+16G>C	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1549459	NM_004104.5(FASN):c.7047+7G>C	FASN	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1127359	NM_004104.5(FASN):c.7044C>G (p.Thr2348=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2982357	NM_004104.5(FASN):c.7033C>G (p.Leu2345Val)	FASN (L2345V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2905395	NM_004104.5(FASN):c.7029C>T (p.Tyr2343=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 711629	NM_004104.5(FASN):c.7020G>A (p.Ser2340=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 3010291	NM_004104.5(FASN):c.7014C>T (p.Asp2338=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 725140	NM_004104.5(FASN):c.7011C>T (p.Phe2337=)	FASN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849157	NM_004104.5(FASN):c.6996C>T (p.Asn2332=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1654124	NM_004104.5(FASN):c.6990C>T (p.Thr2330=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 531052	NM_004104.5(FASN):c.6977G>A (p.Ser2326Asn)	FASN (S2326N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1400266	NM_004104.5(FASN):c.6971A>T (p.Gln2324Leu)	FASN (Q2324L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531077	NM_004104.5(FASN):c.6936C>T (p.Cys2312=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1510097	NM_004104.5(FASN):c.6933C>G (p.Ala2311=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1624872	NM_004104.5(FASN):c.6927C>T (p.Tyr2309=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2034048	NM_004104.5(FASN):c.6924C>T (p.Ser2308=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1483550	NM_004104.5(FASN):c.6916G>A (p.Gly2306Ser)	FASN (G2306S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1576793	NM_004104.5(FASN):c.6915C>T (p.Ala2305=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1392095	NM_004104.5(FASN):c.6910G>A (p.Val2304Met)	FASN (V2304M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2058582	NM_004104.5(FASN):c.6908G>A (p.Arg2303His)	FASN (R2303H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 971127	NM_004104.5(FASN):c.6907C>T (p.Arg2303Cys)	FASN (R2303C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531088	NM_004104.5(FASN):c.6903C>T (p.Pro2301=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 462104	NM_004104.5(FASN):c.6894C>T (p.Pro2298=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2740800	NM_004104.5(FASN):c.6886G>T (p.Val2296Leu)	FASN (V2296L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2727453	NM_004104.5(FASN):c.6885G>A (p.Gln2295=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GUncertain significance
Select item 2721546	NM_004104.5(FASN):c.6882G>A (p.Arg2294=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2633858	NM_004104.5(FASN):c.6861_6876del (p.Tyr2288fs)	FASN (Y2288fs)	Deletion (frameshift variant)	FASN-related disorder	GUncertain significance
Select item 941358	NM_004104.5(FASN):c.6871G>A (p.Asp2291Asn)	FASN (D2291N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 729900	NM_004104.5(FASN):c.6870C>T (p.Ile2290=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 837636	NM_004104.5(FASN):c.6868A>G (p.Ile2290Val)	FASN (I2290V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1091441	NM_004104.5(FASN):c.6855G>A (p.Leu2285=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1427209	NM_004104.5(FASN):c.6851G>A (p.Ser2284Asn)	FASN (S2284N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1637071	NM_004104.5(FASN):c.6849C>T (p.His2283=)	FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign

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