"Ambry Genetics"[submitter] AND "FLG2"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2561110	NM_001014342.3(FLG2):c.6938G>A (p.Gly2313Glu)	FLG-AS1, FLG2 (G2313E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213295	NM_001014342.3(FLG2):c.6818G>A (p.Gly2273Glu)	FLG-AS1, FLG2 (G2273E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528730	NM_001014342.3(FLG2):c.6679G>A (p.Gly2227Arg)	FLG-AS1, FLG2 (G2227R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379834	NM_001014342.3(FLG2):c.6665C>T (p.Thr2222Ile)	FLG-AS1, FLG2 (T2222I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493206	NM_001014342.3(FLG2):c.6620G>C (p.Arg2207Pro)	FLG-AS1, FLG2 (R2207P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604282	NM_001014342.3(FLG2):c.6515C>A (p.Thr2172Lys)	FLG2, FLG-AS1 (T2172K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363530	NM_001014342.3(FLG2):c.6455G>T (p.Gly2152Val)	FLG-AS1, FLG2 (G2152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507744	NM_001014342.3(FLG2):c.6349G>T (p.Val2117Phe)	FLG-AS1, FLG2 (V2117F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224618	NM_001014342.3(FLG2):c.6143G>A (p.Gly2048Glu)	FLG-AS1, FLG2 (G2048E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216080	NM_001014342.3(FLG2):c.6098A>C (p.Tyr2033Ser)	FLG-AS1, FLG2 (Y2033S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2305979	NM_001014342.3(FLG2):c.5983G>A (p.Gly1995Arg)	FLG-AS1, FLG2 (G1995R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2590366	NM_001014342.3(FLG2):c.5976G>C (p.Glu1992Asp)	FLG-AS1, FLG2 (E1992D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342249	NM_001014342.3(FLG2):c.5929G>A (p.Gly1977Ser)	FLG-AS1, FLG2 (G1977S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362680	NM_001014342.3(FLG2):c.5914T>A (p.Ser1972Thr)	CCDST, FLG2 (S1972T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2548020	NM_001014342.3(FLG2):c.5882G>T (p.Ser1961Ile)	FLG-AS1, FLG2 (S1961I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257611	NM_001014342.3(FLG2):c.5852G>A (p.Arg1951Lys)	FLG-AS1, FLG2 (R1951K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369985	NM_001014342.3(FLG2):c.5830G>A (p.Gly1944Arg)	FLG-AS1, FLG2 (G1944R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408205	NM_001014342.3(FLG2):c.5798G>A (p.Gly1933Asp)	FLG-AS1, FLG2 (G1933D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455335	NM_001014342.3(FLG2):c.5723A>G (p.His1908Arg)	FLG-AS1, FLG2 (H1908R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387945	NM_001014342.3(FLG2):c.5693G>A (p.Gly1898Glu)	FLG-AS1, FLG2 (G1898E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589751	NM_001014342.3(FLG2):c.5684C>T (p.Thr1895Ile)	FLG-AS1, FLG2 (T1895I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468143	NM_001014342.3(FLG2):c.5663T>C (p.Val1888Ala)	FLG-AS1, FLG2 (V1888A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456841	NM_001014342.3(FLG2):c.5642G>A (p.Ser1881Asn)	FLG-AS1, FLG2 (S1881N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589156	NM_001014342.3(FLG2):c.5609C>T (p.Ser1870Phe)	FLG-AS1, FLG2 (S1870F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237204	NM_001014342.3(FLG2):c.5599C>A (p.Gln1867Lys)	FLG-AS1, FLG2 (Q1867K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391828	NM_001014342.3(FLG2):c.5519T>C (p.Val1840Ala)	FLG-AS1, FLG2 (V1840A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536299	NM_001014342.3(FLG2):c.5479G>A (p.Gly1827Ser)	FLG-AS1, FLG2 (G1827S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335344	NM_001014342.3(FLG2):c.5333C>G (p.Thr1778Ser)	FLG-AS1, FLG2 (T1778S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221689	NM_001014342.3(FLG2):c.5288T>G (p.Val1763Gly)	FLG-AS1, FLG2 (V1763G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384717	NM_001014342.3(FLG2):c.5275T>C (p.Ser1759Pro)	FLG-AS1, FLG2 (S1759P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367551	NM_001014342.3(FLG2):c.5135T>C (p.Leu1712Ser)	FLG-AS1, FLG2 (L1712S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353609	NM_001014342.3(FLG2):c.5122T>C (p.Tyr1708His)	FLG-AS1, FLG2 (Y1708H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617870	NM_001014342.3(FLG2):c.4700G>A (p.Arg1567Lys)	FLG-AS1, FLG2 (R1567K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375210	NM_001014342.3(FLG2):c.4691C>T (p.Thr1564Ile)	FLG-AS1, FLG2 (T1564I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360519	NM_001014342.3(FLG2):c.4595C>T (p.Ser1532Leu)	FLG-AS1, FLG2 (S1532L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342259	NM_001014342.3(FLG2):c.4541C>T (p.Ser1514Leu)	FLG-AS1, FLG2 (S1514L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347160	NM_001014342.3(FLG2):c.4496C>A (p.Ser1499Tyr)	FLG-AS1, FLG2 (S1499Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352438	NM_001014342.3(FLG2):c.4411C>A (p.Gln1471Lys)	FLG-AS1, FLG2 (Q1471K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273430	NM_001014342.3(FLG2):c.4382T>A (p.Val1461Asp)	FLG2, FLG-AS1 (V1461D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514655	NM_001014342.3(FLG2):c.4108C>T (p.His1370Tyr)	FLG-AS1, FLG2 (H1370Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210879	NM_001014342.3(FLG2):c.3959A>T (p.Asp1320Val)	FLG-AS1, FLG2 (D1320V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362748	NM_001014342.3(FLG2):c.3923G>A (p.Arg1308His)	FLG-AS1, FLG2 (R1308H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2524635	NM_001014342.3(FLG2):c.3850G>C (p.Val1284Leu)	FLG-AS1, FLG2 (V1284L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605826	NM_001014342.3(FLG2):c.3793A>G (p.Thr1265Ala)	FLG-AS1, FLG2 (T1265A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	FLG-AS1, FLG2 (S1250N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238216	NM_001014342.3(FLG2):c.3660G>C (p.Gln1220His)	FLG-AS1, FLG2 (Q1220H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342256	NM_001014342.3(FLG2):c.3547G>T (p.Val1183Leu)	FLG-AS1, FLG2 (V1183L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258555	NM_001014342.3(FLG2):c.3440G>T (p.Arg1147Ile)	FLG-AS1, FLG2 (R1147I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359869	NM_001014342.3(FLG2):c.3333G>T (p.Gln1111His)	FLG-AS1, FLG2 (Q1111H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265604	NM_001014342.3(FLG2):c.3290G>T (p.Gly1097Val)	FLG-AS1, FLG2 (G1097V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471725	NM_001014342.3(FLG2):c.3251G>A (p.Ser1084Asn)	FLG-AS1, FLG2 (S1084N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281728	NM_001014342.3(FLG2):c.3239G>T (p.Gly1080Val)	FLG-AS1, FLG2 (G1080V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404800	NM_001014342.3(FLG2):c.3215G>A (p.Arg1072His)	FLG-AS1, FLG2 (R1072H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230747	NM_001014342.3(FLG2):c.3214C>T (p.Arg1072Cys)	FLG-AS1, FLG2 (R1072C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538029	NM_001014342.3(FLG2):c.3175G>A (p.Gly1059Arg)	FLG-AS1, FLG2 (G1059R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615861	NM_001014342.3(FLG2):c.3035A>G (p.Tyr1012Cys)	FLG-AS1, FLG2 (Y1012C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613739	NM_001014342.3(FLG2):c.3008G>C (p.Gly1003Ala)	FLG-AS1, FLG2 (G1003A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333838	NM_001014342.3(FLG2):c.2975C>G (p.Ser992Cys)	FLG-AS1, FLG2 (S992C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371050	NM_001014342.3(FLG2):c.2899G>A (p.Gly967Ser)	FLG-AS1, FLG2 (G967S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393587	NM_001014342.3(FLG2):c.2885G>A (p.Gly962Asp)	FLG-AS1, FLG2 (G962D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347191	NM_001014342.3(FLG2):c.2837T>C (p.Phe946Ser)	FLG-AS1, FLG2 (F946S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2256495	NM_001014342.3(FLG2):c.2813A>G (p.His938Arg)	FLG-AS1, FLG2 (H938R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298780	NM_001014342.3(FLG2):c.2789G>A (p.Ser930Asn)	FLG-AS1, FLG2 (S930N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399859	NM_001014342.3(FLG2):c.2774A>G (p.His925Arg)	FLG-AS1, FLG2 (H925R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372420	NM_001014342.3(FLG2):c.2725G>T (p.Gly909Cys)	FLG-AS1, FLG2 (G909C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211906	NM_001014342.3(FLG2):c.2641T>C (p.Tyr881His)	FLG-AS1, FLG2 (Y881H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203848	NM_001014342.3(FLG2):c.2477G>A (p.Gly826Asp)	FLG-AS1, FLG2 (G826D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287280	NM_001014342.3(FLG2):c.2465A>G (p.Gln822Arg)	FLG-AS1, FLG2 (Q822R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388920	NM_001014342.3(FLG2):c.2437G>A (p.Gly813Ser)	FLG-AS1, FLG2 (G813S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557369	NM_001014342.3(FLG2):c.2311G>A (p.Gly771Ser)	FLG-AS1, FLG2 (G771S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206119	NM_001014342.3(FLG2):c.2251G>A (p.Gly751Ser)	FLG-AS1, FLG2 (G751S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218242	NM_001014342.3(FLG2):c.2155T>C (p.Phe719Leu)	FLG-AS1, FLG2 (F719L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235251	NM_001014342.3(FLG2):c.2086C>A (p.His696Asn)	FLG-AS1, FLG2 (H696N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560199	NM_001014342.3(FLG2):c.2050C>T (p.His684Tyr)	FLG-AS1, FLG2 (H684Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540470	NM_001014342.3(FLG2):c.2014G>A (p.Val672Ile)	FLG-AS1, FLG2 (V672I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523556	NM_001014342.3(FLG2):c.1969C>G (p.Gln657Glu)	FLG2, FLG-AS1 (Q657E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337323	NM_001014342.3(FLG2):c.1936G>A (p.Gly646Arg)	FLG-AS1, FLG2 (G646R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476880	NM_001014342.3(FLG2):c.1790G>C (p.Gly597Ala)	FLG-AS1, FLG2 (G597A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611016	NM_001014342.3(FLG2):c.1700T>C (p.Phe567Ser)	FLG-AS1, FLG2 (F567S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522642	NM_001014342.3(FLG2):c.1676A>G (p.Tyr559Cys)	FLG-AS1, FLG2 (Y559C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559975	NM_001014342.3(FLG2):c.1526G>T (p.Gly509Val)	FLG-AS1, FLG2 (G509V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392047	NM_001014342.3(FLG2):c.1521G>C (p.Gln507His)	FLG-AS1, FLG2 (Q507H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327438	NM_001014342.3(FLG2):c.1373C>G (p.Ser458Cys)	FLG-AS1, FLG2 (S458C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489879	NM_001014342.3(FLG2):c.1358G>A (p.Cys453Tyr)	FLG-AS1, FLG2 (C453Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569189	NM_001014342.3(FLG2):c.1327G>A (p.Glu443Lys)	FLG-AS1, FLG2 (E443K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379053	NM_001014342.3(FLG2):c.1208G>A (p.Arg403His)	FLG-AS1, FLG2 (R403H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2528969	NM_001014342.3(FLG2):c.1044G>C (p.Gln348His)	FLG-AS1, FLG2 (Q348H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604065	NM_001014342.3(FLG2):c.1015G>A (p.Gly339Ser)	FLG-AS1, FLG2 (G339S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356986	NM_001014342.3(FLG2):c.955T>A (p.Ser319Thr)	FLG-AS1, FLG2 (S319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617678	NM_001014342.3(FLG2):c.791G>T (p.Gly264Val)	FLG-AS1, FLG2 (G264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347161	NM_001014342.3(FLG2):c.732G>C (p.Leu244Phe)	FLG-AS1, FLG2 (L244F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331787	NM_001014342.3(FLG2):c.722C>T (p.Ser241Leu)	FLG-AS1, FLG2 (S241L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402077	NM_001014342.3(FLG2):c.494A>T (p.Gln165Leu)	FLG-AS1, FLG2 (Q165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311532	NM_001014342.3(FLG2):c.476C>G (p.Ser159Cys)	FLG-AS1, FLG2 (S159C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601364	NM_001014342.3(FLG2):c.386A>G (p.Tyr129Cys)	FLG-AS1, FLG2 (Y129C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213971	NM_001014342.3(FLG2):c.311G>A (p.Arg104His)	FLG-AS1, FLG2 (R104H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2310540	NM_001014342.3(FLG2):c.148G>A (p.Asp50Asn)	FLG2, FLG-AS1 (D50N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 98