388698[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 192

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 154029	GRCh38/hg38 1q21.3(chr1:152267710-152436835)x1	CCDST, CRNN +2 more	Copy number loss	See cases	GUncertain significance
Select item 1287657	NM_001014342.3(FLG2):c.7130C>A (p.Ser2377Ter)	FLG-AS1, FLG2 (S2377*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2672355	NM_001014342.3(FLG2):c.7086G>A (p.Gly2362=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2561110	NM_001014342.3(FLG2):c.6938G>A (p.Gly2313Glu)	CCDST, FLG2 (G2313E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095634	NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr)	CCDST, FLG2 (A2279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213295	NM_001014342.3(FLG2):c.6818G>A (p.Gly2273Glu)	CCDST, FLG2 (G2273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528730	NM_001014342.3(FLG2):c.6679G>A (p.Gly2227Arg)	CCDST, FLG2 (G2227R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379834	NM_001014342.3(FLG2):c.6665C>T (p.Thr2222Ile)	CCDST, FLG2 (T2222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095633	NM_001014342.3(FLG2):c.6647A>T (p.His2216Leu)	CCDST, FLG2 (H2216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639329	NM_001014342.3(FLG2):c.6644G>A (p.Gly2215Asp)	CCDST, FLG2 (G2215D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639330	NM_001014342.3(FLG2):c.6633A>G (p.Ser2211=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493206	NM_001014342.3(FLG2):c.6620G>C (p.Arg2207Pro)	CCDST, FLG2 (R2207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095632	NM_001014342.3(FLG2):c.6617C>T (p.Ser2206Phe)	CCDST, FLG2 (S2206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578581	NM_001014342.3(FLG2):c.6612C>T (p.Ala2204=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604282	NM_001014342.3(FLG2):c.6515C>A (p.Thr2172Lys)	CCDST, FLG2 (T2172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095631	NM_001014342.3(FLG2):c.6506G>C (p.Gly2169Ala)	CCDST, FLG2 (G2169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363530	NM_001014342.3(FLG2):c.6455G>T (p.Gly2152Val)	CCDST, FLG2 (G2152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025221	NM_001014342.3(FLG2):c.6424G>A (p.Gly2142Arg)	CCDST, FLG2 (G2142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3095630	NM_001014342.3(FLG2):c.6349G>C (p.Val2117Leu)	CCDST, FLG2 (V2117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507744	NM_001014342.3(FLG2):c.6349G>T (p.Val2117Phe)	CCDST, FLG2 (V2117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639331	NM_001014342.3(FLG2):c.6260A>G (p.His2087Arg)	CCDST, FLG2 (H2087R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1261755	NM_001014342.3(FLG2):c.6163G>A (p.Gly2055Arg)	FLG-AS1, FLG2 (G2055R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2224618	NM_001014342.3(FLG2):c.6143G>A (p.Gly2048Glu)	CCDST, FLG2 (G2048E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216080	NM_001014342.3(FLG2):c.6098A>C (p.Tyr2033Ser)	CCDST, FLG2 (Y2033S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095629	NM_001014342.3(FLG2):c.6068C>T (p.Thr2023Ile)	CCDST, FLG2 (T2023I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639332	NM_001014342.3(FLG2):c.6060C>A (p.Ser2020=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639333	NM_001014342.3(FLG2):c.6021T>A (p.His2007Gln)	CCDST, FLG2 (H2007Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639334	NM_001014342.3(FLG2):c.6020A>G (p.His2007Arg)	CCDST, FLG2 (H2007R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2305979	NM_001014342.3(FLG2):c.5983G>A (p.Gly1995Arg)	CCDST, FLG2 (G1995R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590366	NM_001014342.3(FLG2):c.5976G>C (p.Glu1992Asp)	CCDST, FLG2 (E1992D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095628	NM_001014342.3(FLG2):c.5939G>T (p.Gly1980Val)	CCDST, FLG2 (G1980V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342249	NM_001014342.3(FLG2):c.5929G>A (p.Gly1977Ser)	CCDST, FLG2 (G1977S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362680	NM_001014342.3(FLG2):c.5914T>A (p.Ser1972Thr)	CCDST, FLG2 (S1972T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3095627	NM_001014342.3(FLG2):c.5905C>T (p.His1969Tyr)	CCDST, FLG2 (H1969Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095626	NM_001014342.3(FLG2):c.5905C>A (p.His1969Asn)	CCDST, FLG2 (H1969N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548020	NM_001014342.3(FLG2):c.5882G>T (p.Ser1961Ile)	CCDST, FLG2 (S1961I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1237699	NM_001014342.3(FLG2):c.5865C>T (p.His1955=)	FLG-AS1, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2257611	NM_001014342.3(FLG2):c.5852G>A (p.Arg1951Lys)	CCDST, FLG2 (R1951K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369985	NM_001014342.3(FLG2):c.5830G>A (p.Gly1944Arg)	CCDST, FLG2 (G1944R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408205	NM_001014342.3(FLG2):c.5798G>A (p.Gly1933Asp)	CCDST, FLG2 (G1933D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455335	NM_001014342.3(FLG2):c.5723A>G (p.His1908Arg)	CCDST, FLG2 (H1908R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387945	NM_001014342.3(FLG2):c.5693G>A (p.Gly1898Glu)	CCDST, FLG2 (G1898E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589751	NM_001014342.3(FLG2):c.5684C>T (p.Thr1895Ile)	CCDST, FLG2 (T1895I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468143	NM_001014342.3(FLG2):c.5663T>C (p.Val1888Ala)	CCDST, FLG2 (V1888A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456841	NM_001014342.3(FLG2):c.5642G>A (p.Ser1881Asn)	CCDST, FLG2 (S1881N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589156	NM_001014342.3(FLG2):c.5609C>T (p.Ser1870Phe)	CCDST, FLG2 (S1870F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237204	NM_001014342.3(FLG2):c.5599C>A (p.Gln1867Lys)	CCDST, FLG2 (Q1867K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095625	NM_001014342.3(FLG2):c.5597C>G (p.Thr1866Arg)	CCDST, FLG2 (T1866R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095624	NM_001014342.3(FLG2):c.5581G>T (p.Gly1861Cys)	CCDST, FLG2 (G1861C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095623	NM_001014342.3(FLG2):c.5578T>C (p.Ser1860Pro)	CCDST, FLG2 (S1860P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391828	NM_001014342.3(FLG2):c.5519T>C (p.Val1840Ala)	CCDST, FLG2 (V1840A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536299	NM_001014342.3(FLG2):c.5479G>A (p.Gly1827Ser)	CCDST, FLG2 (G1827S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027219	NM_001014342.3(FLG2):c.5478C>T (p.His1826=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335344	NM_001014342.3(FLG2):c.5333C>G (p.Thr1778Ser)	CCDST, FLG2 (T1778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221689	NM_001014342.3(FLG2):c.5288T>G (p.Val1763Gly)	CCDST, FLG2 (V1763G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384717	NM_001014342.3(FLG2):c.5275T>C (p.Ser1759Pro)	CCDST, FLG2 (S1759P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095622	NM_001014342.3(FLG2):c.5191T>G (p.Tyr1731Asp)	CCDST, FLG2 (Y1731D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367551	NM_001014342.3(FLG2):c.5135T>C (p.Leu1712Ser)	CCDST, FLG2 (L1712S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353609	NM_001014342.3(FLG2):c.5122T>C (p.Tyr1708His)	CCDST, FLG2 (Y1708H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025257	NM_001014342.3(FLG2):c.5022T>C (p.His1674=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095621	NM_001014342.3(FLG2):c.5017A>T (p.Thr1673Ser)	CCDST, FLG2 (T1673S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095620	NM_001014342.3(FLG2):c.4981G>T (p.Val1661Leu)	CCDST, FLG2 (V1661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095619	NM_001014342.3(FLG2):c.4923A>T (p.Arg1641Ser)	CCDST, FLG2 (R1641S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095618	NM_001014342.3(FLG2):c.4856C>A (p.Thr1619Asn)	CCDST, FLG2 (T1619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235951	NM_001014342.3(FLG2):c.4806C>T (p.Ala1602=)	FLG-AS1, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2504511	NM_001014342.3(FLG2):c.4783C>T (p.Arg1595Ter)	FLG-AS1, FLG2 (R1595*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2617870	NM_001014342.3(FLG2):c.4700G>A (p.Arg1567Lys)	CCDST, FLG2 (R1567K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375210	NM_001014342.3(FLG2):c.4691C>T (p.Thr1564Ile)	CCDST, FLG2 (T1564I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095617	NM_001014342.3(FLG2):c.4669G>A (p.Gly1557Ser)	CCDST, FLG2 (G1557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360519	NM_001014342.3(FLG2):c.4595C>T (p.Ser1532Leu)	CCDST, FLG2 (S1532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342259	NM_001014342.3(FLG2):c.4541C>T (p.Ser1514Leu)	CCDST, FLG2 (S1514L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279959	NM_001014342.3(FLG2):c.4530C>T (p.His1510=)	FLG-AS1, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2347160	NM_001014342.3(FLG2):c.4496C>A (p.Ser1499Tyr)	CCDST, FLG2 (S1499Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352438	NM_001014342.3(FLG2):c.4411C>A (p.Gln1471Lys)	CCDST, FLG2 (Q1471K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273430	NM_001014342.3(FLG2):c.4382T>A (p.Val1461Asp)	CCDST, FLG2 (V1461D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095616	NM_001014342.3(FLG2):c.4164T>A (p.His1388Gln)	CCDST, FLG2 (H1388Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514655	NM_001014342.3(FLG2):c.4108C>T (p.His1370Tyr)	CCDST, FLG2 (H1370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210879	NM_001014342.3(FLG2):c.3959A>T (p.Asp1320Val)	CCDST, FLG2 (D1320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362748	NM_001014342.3(FLG2):c.3923G>A (p.Arg1308His)	CCDST, FLG2 (R1308H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524635	NM_001014342.3(FLG2):c.3850G>C (p.Val1284Leu)	CCDST, FLG2 (V1284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639335	NM_001014342.3(FLG2):c.3846A>C (p.Ser1282=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605826	NM_001014342.3(FLG2):c.3793A>G (p.Thr1265Ala)	CCDST, FLG2 (T1265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402638	NM_001014342.3(FLG2):c.3777G>C (p.Gln1259His)	CCDST, FLG2 (Q1259H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2235774	NM_001014342.3(FLG2):c.3749G>A (p.Ser1250Asn)	CCDST, FLG2 (S1250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247512	NM_001014342.3(FLG2):c.3746A>G (p.His1249Arg)	FLG-AS1, FLG2 (H1249R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 806217	NM_001014342.3(FLG2):c.3712del (p.Thr1238fs)	CCDST, FLG2 (T1238fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2238216	NM_001014342.3(FLG2):c.3660G>C (p.Gln1220His)	CCDST, FLG2 (Q1220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806218	NM_001014342.3(FLG2):c.3557del (p.Gly1185_Ser1186insTer)	CCDST, FLG2	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 2342256	NM_001014342.3(FLG2):c.3547G>T (p.Val1183Leu)	CCDST, FLG2 (V1183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639336	NM_001014342.3(FLG2):c.3510G>A (p.Glu1170=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258555	NM_001014342.3(FLG2):c.3440G>T (p.Arg1147Ile)	CCDST, FLG2 (R1147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095614	NM_001014342.3(FLG2):c.3424G>T (p.Ala1142Ser)	CCDST, FLG2 (A1142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1178008	NM_001014342.3(FLG2):c.3419G>A (p.Gly1140Asp)	FLG-AS1, FLG2 (G1140D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3095613	NM_001014342.3(FLG2):c.3365C>T (p.Ser1122Leu)	CCDST, FLG2 (S1122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359869	NM_001014342.3(FLG2):c.3333G>T (p.Gln1111His)	CCDST, FLG2 (Q1111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265604	NM_001014342.3(FLG2):c.3290G>T (p.Gly1097Val)	CCDST, FLG2 (G1097V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095612	NM_001014342.3(FLG2):c.3266A>G (p.Tyr1089Cys)	CCDST, FLG2 (Y1089C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471725	NM_001014342.3(FLG2):c.3251G>A (p.Ser1084Asn)	CCDST, FLG2 (S1084N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281728	NM_001014342.3(FLG2):c.3239G>T (p.Gly1080Val)	CCDST, FLG2 (G1080V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2