FASN[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2161

<< First< Prev

Page of 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 60176	GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3	CCDC57, CD7 +73 more	Copy number gain	See cases	GUncertain significance
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 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 2074130	NM_004104.5(FASN):c.7350G>A (p.Thr2450=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
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 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 1943195	NM_004104.5(FASN):c.7341C>A (p.Arg2447=)	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 1523494	NM_004104.5(FASN):c.7332G>A (p.Met2444Ile)	FASN, LOC129390948 (M2444I)	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 1130493	NM_004104.5(FASN):c.7326C>T (p.Asn2442=)	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 1481856	NM_004104.5(FASN):c.7323C>T (p.Gly2441=)	FASN, LOC129390948	Single nucleotide variant (synonymous 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 2769936	NM_004104.5(FASN):c.7301C>T (p.Thr2434Ile)	FASN, LOC129390948 (T2434I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	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 2983153	NM_004104.5(FASN):c.7283G>A (p.Arg2428His)	FASN, LOC129390948 (R2428H)	Single nucleotide variant (missense 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 1965273	NM_004104.5(FASN):c.7269C>A (p.Phe2423Leu)	FASN, LOC129390948 (F2423L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	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 1424681	NM_004104.5(FASN):c.7262G>A (p.Arg2421Gln)	FASN, LOC129390948 (R2421Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	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 1380974	NM_004104.5(FASN):c.7259C>T (p.Ala2420Val)	FASN, LOC129390948 (A2420V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
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 2183771	NM_004104.5(FASN):c.7256C>T (p.Ala2419Val)	FASN, LOC129390948 (A2419V)	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 2244655	NM_004104.5(FASN):c.7249A>C (p.Ser2417Arg)	FASN, LOC129390948 (S2417R)	Single nucleotide variant (missense variant)	not specified	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 2754726	NM_004104.5(FASN):c.7244A>T (p.Glu2415Val)	FASN, LOC129390948 (E2415V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	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 1008829	NM_004104.5(FASN):c.7238G>A (p.Arg2413His)	FASN, LOC129390948 (R2413H)	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 663774	NM_004104.5(FASN):c.7229G>A (p.Gly2410Asp)	FASN, LOC129390948 (G2410D)	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 2902264	NM_004104.5(FASN):c.7219A>T (p.Ser2407Cys)	FASN, LOC129390948 (S2407C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	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 1662247	NM_004104.5(FASN):c.7203G>A (p.Val2401=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
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 2889707	NM_004104.5(FASN):c.7198G>A (p.Ala2400Thr)	FASN, LOC129390948 (A2400T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
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 2724073	NM_004104.5(FASN):c.7196C>G (p.Ala2399Gly)	FASN, LOC129390948 (A2399G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	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 708054	NM_004104.5(FASN):c.7191G>A (p.Val2397=)	FASN, LOC129390948	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
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 1909245	NM_004104.5(FASN):c.7182G>A (p.Glu2394=)	LOC129390948, FASN	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 531101	NM_004104.5(FASN):c.7169T>G (p.Leu2390Arg)	FASN, LOC129390948 (L2390R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign

<< First< Prev

Page of 22