Related gene-specific medical variations for Gene (Select 2335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3239610	NM_212482.4(FN1):c.5967C>T (p.Asp1989=)	FN1, LOC126806496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 2986308	NM_212482.4(FN1):c.6982G>A (p.Gly2328Ser)	ATIC, FN1 (G2118S +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981497	NM_212482.4(FN1):c.1393+7T>A	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979710	NM_212482.4(FN1):c.1548T>C (p.Asp516=)	FN1, LOC122861289	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967593	NM_212482.4(FN1):c.4252+16T>C	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966220	NM_212482.4(FN1):c.1217-8C>A	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962335	NM_212482.4(FN1):c.1217-14A>G	FN1, LOC126806498	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955225	NM_212482.4(FN1):c.7253G>A (p.Gly2418Asp)	ATIC, FN1 (G2208D +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911209	NM_212482.4(FN1):c.7427G>A (p.Arg2476Gln)	ATIC, FN1 (R2265Q +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2901174	NM_212482.4(FN1):c.351C>G (p.Asp117Glu)	FN1, LOC126806499 (D117E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898103	NM_212482.4(FN1):c.1580T>A (p.Val527Glu)	FN1, LOC122861289 (V527E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2896250	NM_212482.4(FN1):c.7168G>A (p.Gly2390Arg)	ATIC, FN1 (G2089R +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894699	NM_212482.4(FN1):c.7019-7C>T	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894230	NM_212482.4(FN1):c.7155G>A (p.Thr2385=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2887991	NM_212482.4(FN1):c.4218A>G (p.Ser1406=)	FN1, LOC126806497	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2886894	NM_212482.4(FN1):c.7346A>G (p.His2449Arg)	ATIC, FN1 (H2238R +16 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2880185	NM_212482.4(FN1):c.76G>A (p.Ala26Thr)	FN1, FN1-DT (A26T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2878738	NM_212482.4(FN1):c.25C>A (p.Leu9Met)	FN1, FN1-DT (L9M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2876529	NM_212482.4(FN1):c.1144G>A (p.Gly382Arg)	FN1, LOC126806498 (G382R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868507	NM_212482.4(FN1):c.7145-19G>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867862	NM_212482.4(FN1):c.5978-5T>G	FN1, LOC126806496	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867171	NM_212482.4(FN1):c.1232G>A (p.Arg411Gln)	FN1, LOC126806498 (R411Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859188	NM_212482.4(FN1):c.4116C>T (p.Asp1372=)	FN1, LOC126806497	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844214	NM_212482.4(FN1):c.63G>A (p.Val21=)	FN1, FN1-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2835833	NM_212482.4(FN1):c.45G>T (p.Gln15His)	FN1, FN1-DT (Q15H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2832244	NM_212482.4(FN1):c.1612G>C (p.Gly538Arg)	FN1, LOC122861289 (G538R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816406	NM_212482.4(FN1):c.7297C>T (p.Pro2433Ser)	ATIC, FN1 (P2196S +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812986	NM_212482.4(FN1):c.1206A>G (p.Thr402=)	FN1, LOC126806498	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805689	NM_212482.4(FN1):c.19C>T (p.Pro7Ser)	FN1, FN1-DT (P7S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2799015	NM_212482.4(FN1):c.6863G>C (p.Gly2288Ala)	ATIC, FN1 (G2076A +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798642	NM_212482.4(FN1):c.7362+20A>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785593	NM_212482.4(FN1):c.72G>A (p.Thr24=)	FN1, FN1-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2784056	NM_212482.4(FN1):c.7362+8C>G	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784017	NM_212482.4(FN1):c.278-9del	FN1, LOC126806499	Deletion (intron variant)	not provided	GBenign
Select item 2776616	NM_212482.4(FN1):c.7362+2dup	ATIC, FN1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2764765	NM_212482.4(FN1):c.7041G>C (p.Val2347=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758901	NM_212482.4(FN1):c.7362+4A>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2746136	NM_212482.4(FN1):c.5957T>C (p.Val1986Ala)	FN1, LOC126806496 (V1895A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744799	NM_212482.4(FN1):c.5939A>G (p.Asn1980Ser)	FN1, LOC126806496 (N1799S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740158	NM_212482.4(FN1):c.1618A>G (p.Met540Val)	FN1, LOC122861289 (M540V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2733660	NM_212482.4(FN1):c.6951A>G (p.Glu2317=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2728725	NM_212482.4(FN1):c.7145-14G>C	ATIC, FN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724982	NM_212482.4(FN1):c.7252-8TC[2]	ATIC, FN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2717912	NM_212482.4(FN1):c.6878C>T (p.Thr2293Met)	ATIC, FN1 (T2082M +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712254	NM_212482.4(FN1):c.46T>G (p.Cys16Gly)	FN1, FN1-DT (C16G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2711940	NM_212482.4(FN1):c.7077A>T (p.Gly2359=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709994	NM_212482.4(FN1):c.5888-5C>G	FN1, LOC126806496	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709993	NM_212482.4(FN1):c.5888-4_5888-2del	FN1, LOC126806496	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2707451	NM_212482.4(FN1):c.4C>T (p.Leu2Phe)	FN1, FN1-DT (L2F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2707215	NM_212482.4(FN1):c.7038T>G (p.Gly2346=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706193	NM_212482.4(FN1):c.5858A>T (p.Lys1953Met)	FN1, LOC126806496 (K1953M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697535	NM_212482.4(FN1):c.7355C>T (p.Thr2452Ile)	ATIC, FN1 (T2241I +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695573	NM_212482.4(FN1):c.1328T>G (p.Met443Arg)	FN1, LOC126806498 (M443R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689084	NM_212482.4(FN1):c.3673_3674del (p.Val1225fs)	FN1 (V1225fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2635605	NM_212482.4(FN1):c.1261C>T (p.His421Tyr)	FN1, LOC126806498 (H421Y)	Single nucleotide variant (missense variant)	FN1-related disorder	GUncertain significance
Select item 2593830	NM_212482.4(FN1):c.4094G>A (p.Arg1365Gln)	FN1, LOC126806497 (R1274Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574570	NM_212482.4(FN1):c.338A>G (p.Glu113Gly)	FN1, LOC126806499 (E113G)	Single nucleotide variant (missense variant)	Glomerulopathy with fibronectin deposits 2	GUncertain significance
Select item 2553491	NM_212482.4(FN1):c.1577A>G (p.Asn526Ser)	FN1, LOC122861289 (N526S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496538	NM_212482.4(FN1):c.278C>A (p.Ala93Asp)	FN1, LOC126806499 (A93D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484106	NM_212482.4(FN1):c.5945G>T (p.Arg1982Leu)	FN1, LOC126806496 (R1892L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441538	NM_212482.4(FN1):c.5413_5414del (p.Leu1805fs)	FN1 (L1714fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2441536	NM_212482.4(FN1):c.74G>A (p.Gly25Glu)	FN1, FN1-DT (G25E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2429324	NM_212482.4(FN1):c.340C>G (p.Arg114Gly)	FN1, LOC126806499 (R114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2413719	NM_212482.4(FN1):c.6922G>A (p.Val2308Ile)	ATIC, FN1 (V2007I +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2382847	NM_212482.4(FN1):c.7183G>A (p.Val2395Ile)	ATIC, FN1 (V2214I +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2305100	NM_212482.4(FN1):c.1589C>G (p.Thr530Arg)	FN1, LOC122861289 (T530R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287435	NM_212482.4(FN1):c.7154C>T (p.Thr2385Met)	ATIC, FN1 (T2148M +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278009	NM_212482.4(FN1):c.7193A>T (p.Gln2398Leu)	ATIC, FN1 (Q2161L +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264606	NM_212482.4(FN1):c.7393C>G (p.Pro2465Ala)	ATIC, FN1 (P2164A +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256974	NM_212482.4(FN1):c.7285G>A (p.Gly2429Ser)	ATIC, FN1 (G2217S +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239889	NM_212482.4(FN1):c.1123A>G (p.Thr375Ala)	FN1, LOC126806498 (T375A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238487	NM_212482.4(FN1):c.5914A>T (p.Ile1972Phe)	FN1, LOC126806496 (I1791F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222301	NM_212482.4(FN1):c.4081C>T (p.Pro1361Ser)	FN1, LOC126806497 (P1270S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196303	NM_212482.4(FN1):c.4170G>A (p.Leu1390=)	FN1, LOC126806497	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192750	NM_212482.4(FN1):c.4175G>A (p.Arg1392His)	FN1, LOC126806497 (R1392H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191607	NM_212482.4(FN1):c.1655G>A (p.Arg552Lys)	FN1, LOC122861289 (R552K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2185649	NM_212482.4(FN1):c.4070-8G>A	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GLikely benign

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