ClinVar for Gene (Select 2335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366354	NM_212482.4(FN1):c.2357dup (p.Tyr786Ter)	FN1 (Y786*)	Duplication (nonsense)	not specified	GUncertain significance
Select item 3354094	NM_212482.4(FN1):c.7259G>A (p.Arg2420His)	ATIC, FN1 (R2119H +16 more)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 3353803	NM_212482.4(FN1):c.6248-9C>A	FN1	Single nucleotide variant (intron variant)	FN1-related disorder	GLikely benign
Select item 3352109	NM_212482.4(FN1):c.301T>A (p.Tyr101Asn)	FN1, LOC126806499 (Y101N)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 3351720	NM_212482.4(FN1):c.2158C>T (p.Pro720Ser)	FN1 (P720S)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 3351362	NM_212482.4(FN1):c.6721G>A (p.Val2241Ile)	FN1 (V1940I +16 more)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 3346022	NM_212482.4(FN1):c.4311G>C (p.Glu1437Asp)	FN1 (E1346D +1 more)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 3337124	NM_212482.4(FN1):c.2882T>C (p.Phe961Ser)	FN1 (F961S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279375	NM_212482.4(FN1):c.2857A>T (p.Arg953Trp)	FN1 (R953W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279374	NM_212482.4(FN1):c.5003C>G (p.Thr1668Ser)	FN1 (T1577S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279373	NM_212482.4(FN1):c.4907C>T (p.Pro1636Leu)	FN1 (P1636L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279372	NM_212482.4(FN1):c.2257G>A (p.Glu753Lys)	FN1 (E753K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3279371	NM_212482.4(FN1):c.5561G>C (p.Gly1854Ala)	FN1 (G1763A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279370	NM_212482.4(FN1):c.6995G>C (p.Gly2332Ala)	ATIC, FN1 (G2095A +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279369	NM_212482.4(FN1):c.4237G>A (p.Ala1413Thr)	FN1, LOC126806497 (A1413T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279368	NM_212482.4(FN1):c.5549A>G (p.Lys1850Arg)	FN1 (K1669R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279367	NM_212482.4(FN1):c.6229A>G (p.Ile2077Val)	FN1 (I1987V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279366	NM_212482.4(FN1):c.3233C>T (p.Ala1078Val)	FN1 (A1078V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3258098	NM_212482.4(FN1):c.4727C>T (p.Thr1576Ile)	FN1 (T1576I +1 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3256684	NM_212482.4(FN1):c.1175A>C (p.Tyr392Ser)	FN1, LOC126806498 (Y392S)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3256673	NM_212482.4(FN1):c.2627A>G (p.Tyr876Cys)	FN1 (Y876C)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GUncertain significance
Select item 3255149	NM_212482.4(FN1):c.1584C>G (p.Asn528Lys)	FN1, LOC122861289 (N528K)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3255147	NM_212482.4(FN1):c.7229G>A (p.Cys2410Tyr)	ATIC, FN1 (C2109Y +16 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3254671	NM_212482.4(FN1):c.5551_5553del (p.Glu1851del)	FN1 (E1670del +3 more)	Deletion (inframe_deletion)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3254670	NM_212482.4(FN1):c.1364A>T (p.Asp455Val)	FN1, LOC126806498 (D455V)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3247620	NC_000002.11:g.(?_216226278)_(216232770_?)dup	FN1	Duplication	not provided	GUncertain significance
Select item 3242048	NM_212482.4(FN1):c.5490C>G (p.Ser1830Arg)	FN1 (S1649R +3 more)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 3239610	NM_212482.4(FN1):c.5967C>T (p.Asp1989=)	FN1, LOC126806496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095962	NM_212482.4(FN1):c.739A>G (p.Ser247Gly)	FN1 (S247G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095960	NM_212482.4(FN1):c.6457C>T (p.Pro2153Ser)	FN1 (P2038S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095959	NM_212482.4(FN1):c.6433G>A (p.Glu2145Lys)	FN1 (E2145K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095958	NM_212482.4(FN1):c.6103C>G (p.Pro2035Ala)	FN1 (P1945A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095957	NM_212482.4(FN1):c.5944C>T (p.Arg1982Trp)	FN1, LOC126806496 (R1892W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095956	NM_212482.4(FN1):c.5606T>A (p.Val1869Asp)	FN1 (V1688D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095955	NM_212482.4(FN1):c.5428T>C (p.Ser1810Pro)	FN1 (S1719P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095954	NM_212482.4(FN1):c.5325A>C (p.Glu1775Asp)	FN1 (E1684D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095952	NM_212482.4(FN1):c.4385C>T (p.Ala1462Val)	FN1 (A1371V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095951	NM_212482.4(FN1):c.4012G>A (p.Val1338Ile)	FN1 (V1338I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095950	NM_212482.4(FN1):c.3989C>T (p.Pro1330Leu)	FN1 (P1330L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095949	NM_212482.4(FN1):c.3807A>C (p.Gln1269His)	FN1 (Q1269H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095947	NM_212482.4(FN1):c.2786C>A (p.Pro929Gln)	FN1 (P929Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095946	NM_212482.4(FN1):c.2468A>G (p.Asp823Gly)	FN1 (D823G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095945	NM_212482.4(FN1):c.2131G>C (p.Val711Leu)	FN1 (V711L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095944	NM_212482.4(FN1):c.2128A>C (p.Thr710Pro)	FN1 (T710P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095943	NM_212482.4(FN1):c.2126A>C (p.Asn709Thr)	FN1 (N709T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095942	NM_212482.4(FN1):c.2125A>C (p.Asn709His)	FN1 (N709H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095941	NM_212482.4(FN1):c.1937G>C (p.Arg646Thr)	FN1 (R646T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095940	NM_212482.4(FN1):c.1477A>G (p.Met493Val)	FN1 (M493V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095939	NM_212482.4(FN1):c.1399G>A (p.Glu467Lys)	FN1 (E467K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095938	NM_212482.4(FN1):c.1127C>T (p.Thr376Ile)	FN1, LOC126806498 (T376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067808	NM_212482.4(FN1):c.5401_5402delinsTT (p.Glu1801Leu)	FN1 (E1710L +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3064945	NM_212482.4(FN1):c.3010_3011insTC (p.Gln1004fs)	FN1 (Q1004fs)	Insertion (frameshift variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 3064834	NM_212482.4(FN1):c.3009_3010del (p.Gln1004fs)	FN1 (Q1004fs)	Deletion (frameshift variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GUncertain significance
Select item 3064820	NM_212482.4(FN1):c.3009_3010dup (p.Gln1004fs)	FN1 (Q1004fs)	Duplication (frameshift variant)	Spondylometaphyseal dysplasia - Sutcliffe type	GLikely pathogenic
Select item 3058212	NM_212482.4(FN1):c.6282C>T (p.Pro2094=)	FN1	Single nucleotide variant (synonymous variant +1 more)	FN1-related disorder	GLikely benign
Select item 3053409	NM_212482.4(FN1):c.4449T>C (p.His1483=)	FN1	Single nucleotide variant (synonymous variant)	FN1-related disorder	GLikely benign
Select item 3052927	NM_212482.4(FN1):c.2451G>A (p.Thr817=)	FN1	Single nucleotide variant (synonymous variant)	FN1-related disorder	GLikely benign
Select item 3045898	NM_212482.4(FN1):c.6321A>C (p.Thr2107=)	FN1	Single nucleotide variant (synonymous variant +2 more)	FN1-related disorder	GLikely benign
Select item 3045451	NM_212482.4(FN1):c.808T>C (p.Cys270Arg)	FN1 (C270R)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 3027329	NM_212482.4(FN1):c.3253+4A>C	FN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023841	NM_212482.4(FN1):c.600G>T (p.Thr200=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022707	NM_212482.4(FN1):c.6158-9T>C	FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022094	NM_212482.4(FN1):c.6432G>A (p.Glu2144=)	FN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021370	NM_212482.4(FN1):c.6174C>T (p.Thr2058=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021123	NM_212482.4(FN1):c.5128G>A (p.Gly1710Arg)	FN1 (G1710R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020974	NM_212482.4(FN1):c.1325A>G (p.Asn442Ser)	FN1, LOC126806498 (N442S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3020866	NM_212482.4(FN1):c.2518+18C>G	FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019982	NM_212482.4(FN1):c.5787T>C (p.Thr1929=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019770	NM_212482.4(FN1):c.4654C>A (p.Pro1552Thr)	FN1 (P1552T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3019719	NM_212482.4(FN1):c.4649C>T (p.Ala1550Val)	FN1 (A1459V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019632	NM_212482.4(FN1):c.6067G>A (p.Gly2023Ser)	FN1 (G1932S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019482	NM_212482.4(FN1):c.4591T>C (p.Leu1531=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018450	NM_212482.4(FN1):c.5321A>T (p.Glu1774Val)	FN1 (E1774V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016852	NM_212482.4(FN1):c.6568T>A (p.Tyr2190Asn)	FN1 (Y2075N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016578	NM_212482.4(FN1):c.6330G>C (p.Lys2110Asn)	FN1 (K1995N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016466	NM_212482.4(FN1):c.4469G>C (p.Gly1490Ala)	FN1 (G1399A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016168	NM_212482.4(FN1):c.2835C>T (p.Asn945=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3016136	NM_212482.4(FN1):c.3026C>A (p.Thr1009Asn)	FN1 (T1009N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3016131	NM_212482.4(FN1):c.7266C>A (p.Asp2422Glu)	ATIC, FN1 (D2121E +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016127	NM_212482.4(FN1):c.4613-4C>T	FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015880	NM_212482.4(FN1):c.2430G>A (p.Ala810=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014663	NM_212482.4(FN1):c.789C>T (p.Asn263=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014541	NM_212482.4(FN1):c.7018A>G (p.Arg2340Gly)	ATIC, FN1 (R2103G +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014307	NM_212482.4(FN1):c.4343-19C>G	FN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3013470	NM_212482.4(FN1):c.4894+13A>G	FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013331	NM_212482.4(FN1):c.4343-16C>G	FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012975	NM_212482.4(FN1):c.4343-20C>T	FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012765	NM_212482.4(FN1):c.547+18C>G	FN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3012317	NM_212482.4(FN1):c.3990G>A (p.Pro1330=)	FN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011723	NM_212482.4(FN1):c.1713A>G (p.Gln571=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011451	NM_212482.4(FN1):c.5585C>A (p.Ala1862Asp)	FN1 (A1681D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010172	NM_212482.4(FN1):c.4826T>G (p.Val1609Gly)	FN1 (V1518G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009973	NM_212482.4(FN1):c.1245C>T (p.Ser415=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009567	NM_212482.4(FN1):c.1206A>C (p.Thr402=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008213	NM_212482.4(FN1):c.1553G>A (p.Cys518Tyr)	FN1, LOC122861289 (C518Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008033	NM_212482.4(FN1):c.95A>C (p.Gln32Pro)	FN1, FN1-DT (Q32P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3008015	NM_212482.4(FN1):c.7134G>A (p.Lys2378=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3007664	NM_212482.4(FN1):c.761A>G (p.Asn254Ser)	FN1 (N254S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007270	NM_212482.4(FN1):c.2571C>T (p.Asn857=)	FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006107	NM_212482.4(FN1):c.6248A>G (p.Asp2083Gly)	FN1 (D2083G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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