ClinVar for Gene (Select 84624) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 203

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3096053	NM_032532.3(FNDC1):c.930G>T (p.Trp310Cys)	FNDC1 (W310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096052	NM_032532.3(FNDC1):c.755G>A (p.Arg252Gln)	FNDC1 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096051	NM_032532.3(FNDC1):c.695T>G (p.Leu232Arg)	FNDC1 (L232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096050	NM_032532.3(FNDC1):c.607C>T (p.Arg203Trp)	FNDC1 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096049	NM_032532.3(FNDC1):c.571T>C (p.Ser191Pro)	FNDC1 (S191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096048	NM_032532.3(FNDC1):c.5642T>A (p.Val1881Glu)	FNDC1 (V1881E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096047	NM_032532.3(FNDC1):c.5630C>A (p.Pro1877His)	FNDC1 (P1877H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096046	NM_032532.3(FNDC1):c.5518G>C (p.Asp1840His)	FNDC1 (D1840H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096045	NM_032532.3(FNDC1):c.5308T>C (p.Phe1770Leu)	FNDC1 (F1770L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096044	NM_032532.3(FNDC1):c.5239T>C (p.Phe1747Leu)	FNDC1 (F1747L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096043	NM_032532.3(FNDC1):c.4847C>T (p.Thr1616Met)	FNDC1 (T1616M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096042	NM_032532.3(FNDC1):c.4556G>A (p.Arg1519Gln)	FNDC1 (R1519Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096040	NM_032532.3(FNDC1):c.4481C>G (p.Thr1494Ser)	FNDC1 (T1494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096039	NM_032532.3(FNDC1):c.4427C>T (p.Thr1476Met)	FNDC1 (T1476M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096038	NM_032532.3(FNDC1):c.4423C>T (p.Arg1475Cys)	FNDC1 (R1475C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096037	NM_032532.3(FNDC1):c.4216C>T (p.Leu1406Phe)	FNDC1 (L1406F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096036	NM_032532.3(FNDC1):c.4051C>T (p.Pro1351Ser)	FNDC1 (P1351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096034	NM_032532.3(FNDC1):c.3911A>G (p.His1304Arg)	FNDC1 (H1304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096033	NM_032532.3(FNDC1):c.385C>T (p.Pro129Ser)	FNDC1 (P129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096032	NM_032532.3(FNDC1):c.3812C>T (p.Pro1271Leu)	FNDC1 (P1271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096031	NM_032532.3(FNDC1):c.3809G>A (p.Ser1270Asn)	FNDC1 (S1270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096029	NM_032532.3(FNDC1):c.3787C>T (p.Pro1263Ser)	FNDC1 (P1263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096028	NM_032532.3(FNDC1):c.3628A>G (p.Arg1210Gly)	FNDC1 (R1210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096027	NM_032532.3(FNDC1):c.361C>T (p.Arg121Cys)	FNDC1 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096026	NM_032532.3(FNDC1):c.3557G>A (p.Gly1186Glu)	FNDC1 (G1186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096025	NM_032532.3(FNDC1):c.3515A>G (p.Gln1172Arg)	FNDC1 (Q1172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096024	NM_032532.3(FNDC1):c.32C>G (p.Ala11Gly)	FNDC1, FNDC1-AS1 (A11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096023	NM_032532.3(FNDC1):c.2956T>G (p.Ser986Ala)	FNDC1 (S986A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096021	NM_032532.3(FNDC1):c.272C>T (p.Ala91Val)	FNDC1 (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096020	NM_032532.3(FNDC1):c.2566C>G (p.Arg856Gly)	FNDC1 (R856G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096019	NM_032532.3(FNDC1):c.2276C>T (p.Ser759Leu)	FNDC1 (S759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096018	NM_032532.3(FNDC1):c.2086C>G (p.Pro696Ala)	FNDC1 (P696A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096017	NM_032532.3(FNDC1):c.194C>A (p.Ala65Asp)	FNDC1 (A65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096016	NM_032532.3(FNDC1):c.1841C>T (p.Pro614Leu)	FNDC1 (P614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096015	NM_032532.3(FNDC1):c.1504G>A (p.Ala502Thr)	FNDC1 (A502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096014	NM_032532.3(FNDC1):c.1366A>G (p.Thr456Ala)	FNDC1 (T456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096013	NM_032532.3(FNDC1):c.1307G>A (p.Arg436Gln)	FNDC1 (R436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096012	NM_032532.3(FNDC1):c.1238A>C (p.Tyr413Ser)	FNDC1 (Y413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096011	NM_032532.3(FNDC1):c.1178A>T (p.Lys393Ile)	FNDC1 (K393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2657097	NM_032532.3(FNDC1):c.4661C>T (p.Thr1554Met)	FNDC1 (T1554M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657096	NM_032532.3(FNDC1):c.3861T>C (p.Pro1287=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657095	NM_032532.3(FNDC1):c.2085G>T (p.Ser695=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657094	NM_032532.3(FNDC1):c.849T>A (p.Pro283=)	FNDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621571	NM_032532.3(FNDC1):c.4617A>C (p.Glu1539Asp)	FNDC1 (E1539D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619594	NM_032532.3(FNDC1):c.3959A>G (p.Tyr1320Cys)	FNDC1 (Y1320C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615361	NM_032532.3(FNDC1):c.4073T>C (p.Val1358Ala)	FNDC1 (V1358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613740	NM_032532.3(FNDC1):c.1975C>T (p.Pro659Ser)	FNDC1 (P659S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613074	NM_032532.3(FNDC1):c.1417G>A (p.Glu473Lys)	FNDC1 (E473K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604658	NM_032532.3(FNDC1):c.3184G>C (p.Gly1062Arg)	FNDC1 (G1062R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599993	NM_032532.3(FNDC1):c.5045C>T (p.Thr1682Ile)	FNDC1 (T1682I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596775	NM_032532.3(FNDC1):c.2953C>G (p.Arg985Gly)	FNDC1 (R985G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596618	NM_032532.3(FNDC1):c.493C>T (p.Arg165Cys)	FNDC1 (R165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594475	NM_032532.3(FNDC1):c.3167A>G (p.Tyr1056Cys)	FNDC1 (Y1056C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589276	NM_032532.3(FNDC1):c.1507A>G (p.Lys503Glu)	FNDC1 (K503E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2567221	NM_032532.3(FNDC1):c.3167A>C (p.Tyr1056Ser)	FNDC1 (Y1056S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559583	NM_032532.3(FNDC1):c.3534G>C (p.Glu1178Asp)	FNDC1 (E1178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558375	NM_032532.3(FNDC1):c.1717G>A (p.Gly573Ser)	FNDC1 (G573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557828	NM_032532.3(FNDC1):c.611A>G (p.Lys204Arg)	FNDC1 (K204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555732	NM_032532.3(FNDC1):c.313G>T (p.Val105Leu)	FNDC1 (V105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551937	NM_032532.3(FNDC1):c.1229C>T (p.Ser410Phe)	FNDC1 (S410F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549159	NM_032532.3(FNDC1):c.1763T>G (p.Met588Arg)	FNDC1 (M588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548423	NM_032532.3(FNDC1):c.1102G>A (p.Val368Ile)	FNDC1 (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531472	NM_032532.3(FNDC1):c.4262C>T (p.Ala1421Val)	FNDC1 (A1421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530125	NM_032532.3(FNDC1):c.1438C>G (p.Pro480Ala)	FNDC1 (P480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529965	NM_032532.3(FNDC1):c.601A>T (p.Ser201Cys)	FNDC1 (S201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529505	NM_032532.3(FNDC1):c.2047G>C (p.Asp683His)	FNDC1 (D683H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527594	NM_032532.3(FNDC1):c.4861G>A (p.Asp1621Asn)	FNDC1 (D1621N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527152	NM_032532.3(FNDC1):c.3533A>T (p.Glu1178Val)	FNDC1 (E1178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524865	NM_032532.3(FNDC1):c.1834G>A (p.Ala612Thr)	FNDC1 (A612T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519281	NM_032532.3(FNDC1):c.2087C>A (p.Pro696Gln)	FNDC1 (P696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517839	NM_032532.3(FNDC1):c.2284A>G (p.Thr762Ala)	FNDC1 (T762A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517187	NM_032532.3(FNDC1):c.3254A>T (p.Glu1085Val)	FNDC1 (E1085V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515073	NM_032532.3(FNDC1):c.4438C>T (p.Arg1480Cys)	FNDC1 (R1480C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510808	NM_032532.3(FNDC1):c.3215A>G (p.Asp1072Gly)	FNDC1 (D1072G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509938	NM_032532.3(FNDC1):c.3658G>A (p.Ala1220Thr)	FNDC1 (A1220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509518	NM_032532.3(FNDC1):c.3536A>G (p.Asp1179Gly)	FNDC1 (D1179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508218	NM_032532.3(FNDC1):c.4990G>A (p.Val1664Met)	FNDC1 (V1664M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495890	NM_032532.3(FNDC1):c.3752C>A (p.Ser1251Tyr)	FNDC1 (S1251Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495823	NM_032532.3(FNDC1):c.2683C>T (p.Pro895Ser)	FNDC1 (P895S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490859	NM_032532.3(FNDC1):c.3895C>A (p.Arg1299Ser)	FNDC1 (R1299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489373	NM_032532.3(FNDC1):c.3074G>A (p.Gly1025Asp)	FNDC1 (G1025D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485770	NM_032532.3(FNDC1):c.3470G>A (p.Gly1157Glu)	FNDC1 (G1157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483343	NM_032532.3(FNDC1):c.4552G>A (p.Glu1518Lys)	FNDC1 (E1518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482697	NM_032532.3(FNDC1):c.5674G>C (p.Gly1892Arg)	FNDC1 (G1892R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482273	NM_032532.3(FNDC1):c.1192T>G (p.Ser398Ala)	FNDC1 (S398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475753	NM_032532.3(FNDC1):c.2374G>C (p.Gly792Arg)	FNDC1 (G792R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472229	NM_032532.3(FNDC1):c.1610C>T (p.Ser537Leu)	FNDC1 (S537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465474	NM_032532.3(FNDC1):c.1961T>G (p.Val654Gly)	FNDC1 (V654G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459830	NM_032532.3(FNDC1):c.1202C>T (p.Pro401Leu)	FNDC1 (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457806	NM_032532.3(FNDC1):c.5563A>G (p.Ile1855Val)	FNDC1 (I1855V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457140	NM_032532.3(FNDC1):c.5639A>G (p.Tyr1880Cys)	FNDC1 (Y1880C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455402	NM_032532.3(FNDC1):c.782A>G (p.Asp261Gly)	FNDC1 (D261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455123	NM_032532.3(FNDC1):c.3221A>T (p.Asp1074Val)	FNDC1 (D1074V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455121	NM_032532.3(FNDC1):c.1346C>T (p.Ala449Val)	FNDC1 (A449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 2412144	NM_032532.3(FNDC1):c.2914A>T (p.Thr972Ser)	FNDC1 (T972S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411210	NM_032532.3(FNDC1):c.4507C>A (p.Pro1503Thr)	FNDC1 (P1503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3