Related gene-specific medical variations for Gene (Select 105377105) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391439	NM_001457.4(FLNB):c.7417+2T>A	FLNB, FLNB-AS1	Single nucleotide variant (splice donor variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 3341358	NM_001457.4(FLNB):c.7328C>G (p.Thr2443Ser)	FLNB, FLNB-AS1 (T2419S +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 3339983	NM_001457.4(FLNB):c.7642G>A (p.Gly2548Arg)	FLNB, FLNB-AS1 (G2524R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3095665	NM_001457.4(FLNB):c.7046C>T (p.Pro2349Leu)	FLNB, FLNB-AS1 (P2338L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3023659	NM_001457.4(FLNB):c.7242A>G (p.Pro2414=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018965	NM_001457.4(FLNB):c.7443A>T (p.Ser2481=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003459	NM_001457.4(FLNB):c.7487C>G (p.Ser2496Trp)	FLNB, FLNB-AS1 (S2472W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000866	NM_001457.4(FLNB):c.7460C>T (p.Ser2487Phe)	FLNB, FLNB-AS1 (S2518F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2990967	NM_001457.4(FLNB):c.7450G>A (p.Glu2484Lys)	FLNB, FLNB-AS1 (E2460K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987432	NM_001457.4(FLNB):c.7248A>G (p.Thr2416=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985447	NM_001457.4(FLNB):c.7071C>T (p.Ile2357=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2979708	NM_001457.4(FLNB):c.7169A>G (p.Tyr2390Cys)	FLNB, FLNB-AS1 (Y2390C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2977896	NM_001457.4(FLNB):c.7621+14C>A	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975654	NM_001457.4(FLNB):c.7418-16C>G	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973039	NM_001457.4(FLNB):c.7417+20G>A	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968368	NM_001457.4(FLNB):c.7423C>T (p.Arg2475Cys)	FLNB, FLNB-AS1 (R2451C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964112	NM_001457.4(FLNB):c.7572G>T (p.Lys2524Asn)	FLNB, FLNB-AS1 (K2500N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963234	NM_001457.4(FLNB):c.7100T>C (p.Val2367Ala)	FLNB, FLNB-AS1 (V2356A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2961259	NM_001457.4(FLNB):c.7558G>T (p.Ala2520Ser)	FLNB, FLNB-AS1 (A2551S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895151	NM_001457.4(FLNB):c.7022-4C>T	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2892584	NM_001457.4(FLNB):c.7387G>T (p.Val2463Leu)	FLNB, FLNB-AS1 (V2439L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2883408	NM_001457.4(FLNB):c.7072G>A (p.Asp2358Asn)	FLNB, FLNB-AS1 (D2334N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2882715	NM_001457.4(FLNB):c.7123G>A (p.Val2375Ile)	FLNB, FLNB-AS1 (V2406I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2881067	NM_001457.4(FLNB):c.7350C>T (p.Tyr2450=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879607	NM_001457.4(FLNB):c.7534G>T (p.Ala2512Ser)	FLNB, FLNB-AS1 (A2543S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878576	NM_001457.4(FLNB):c.7622-10T>C	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2876171	NM_001457.4(FLNB):c.7547C>T (p.Thr2516Ile)	FLNB, FLNB-AS1 (T2547I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871006	NM_001457.4(FLNB):c.7383C>T (p.His2461=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870093	NM_001457.4(FLNB):c.7029T>C (p.Tyr2343=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2859195	NM_001457.4(FLNB):c.7216T>A (p.Phe2406Ile)	FLNB, FLNB-AS1 (F2406I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842914	NM_001457.4(FLNB):c.7539C>A (p.Ser2513Arg)	FLNB, FLNB-AS1 (S2489R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834283	NM_001457.4(FLNB):c.7172G>T (p.Gly2391Val)	FLNB, FLNB-AS1 (G2367V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2830849	NM_001457.4(FLNB):c.7111T>A (p.Phe2371Ile)	FLNB, FLNB-AS1 (F2347I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2824608	NM_001457.4(FLNB):c.7622-15C>T	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2821098	NM_001457.4(FLNB):c.7063C>G (p.His2355Asp)	FLNB, FLNB-AS1 (H2344D +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2818015	NM_001457.4(FLNB):c.7198+12T>C	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2812030	NM_001457.4(FLNB):c.7189G>A (p.Gly2397Ser)	FLNB, FLNB-AS1 (G2386S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2804004	NM_001457.4(FLNB):c.7531G>A (p.Asp2511Asn)	FLNB, FLNB-AS1 (D2511N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796316	NM_001457.4(FLNB):c.7060G>A (p.Val2354Ile)	FLNB, FLNB-AS1 (V2343I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2789078	NM_001457.4(FLNB):c.7231C>T (p.Arg2411Ter)	FLNB, FLNB-AS1 (R2411* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2785204	NM_001457.4(FLNB):c.7246A>C (p.Thr2416Pro)	FLNB, FLNB-AS1 (T2416P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2775948	NM_001457.4(FLNB):c.7391G>A (p.Gly2464Asp)	FLNB, FLNB-AS1 (G2453D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771111	NM_001457.4(FLNB):c.7635G>A (p.Leu2545=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2764421	NM_001457.4(FLNB):c.7611C>T (p.Cys2537=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751869	NM_001457.4(FLNB):c.7199-20T>A	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748775	NM_001457.4(FLNB):c.7356C>G (p.Ile2452Met)	FLNB, FLNB-AS1 (I2428M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746833	NM_001457.4(FLNB):c.7265A>G (p.Glu2422Gly)	FLNB, FLNB-AS1 (E2422G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744614	NM_001457.4(FLNB):c.7437T>G (p.Pro2479=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726289	NM_001457.4(FLNB):c.7096G>A (p.Val2366Met)	FLNB, FLNB-AS1 (V2397M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2722320	NM_001457.4(FLNB):c.7622-7C>A	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2721773	NM_001457.4(FLNB):c.7579G>A (p.Val2527Met)	FLNB, FLNB-AS1 (V2516M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706959	NM_001457.4(FLNB):c.7198+7C>T	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2694224	NM_001457.4(FLNB):c.7556G>T (p.Gly2519Val)	FLNB, FLNB-AS1 (G2495V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653918	NM_001457.4(FLNB):c.7661C>A (p.Thr2554Asn)	FLNB, FLNB-AS1 (T2530N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2489707	NM_001457.4(FLNB):c.7321A>C (p.Met2441Leu)	FLNB, FLNB-AS1 (M2417L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442225	NM_001457.4(FLNB):c.7624T>C (p.Ser2542Pro)	FLNB, FLNB-AS1 (S2518P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Larsen syndrome	GUncertain significance
Select item 2441475	NM_001457.4(FLNB):c.7577T>A (p.Phe2526Tyr)	FLNB, FLNB-AS1 (F2502Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441473	NM_001457.4(FLNB):c.7333A>T (p.Met2445Leu)	FLNB, FLNB-AS1 (M2421L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416820	NM_001457.4(FLNB):c.7124T>C (p.Val2375Ala)	FLNB, FLNB-AS1 (V2351A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2415680	NM_001457.4(FLNB):c.7175C>T (p.Thr2392Met)	FLNB, FLNB-AS1 (T2423M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2330759	NM_001457.4(FLNB):c.7141G>A (p.Ala2381Thr)	FLNB, FLNB-AS1 (A2357T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313799	NM_001457.4(FLNB):c.7297G>A (p.Glu2433Lys)	FLNB, FLNB-AS1 (E2409K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278087	NM_001457.4(FLNB):c.7328C>A (p.Thr2443Asn)	FLNB, FLNB-AS1 (T2443N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236824	NM_001457.4(FLNB):c.7322T>C (p.Met2441Thr)	FLNB, FLNB-AS1 (M2417T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202982	NM_001457.4(FLNB):c.7488G>A (p.Ser2496=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2198311	NM_001457.4(FLNB):c.7369G>A (p.Gly2457Ser)	FLNB, FLNB-AS1 (G2433S +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2192631	NM_001457.4(FLNB):c.7208C>T (p.Ser2403Leu)	FLNB, FLNB-AS1 (S2392L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2191104	NM_001457.4(FLNB):c.7623C>T (p.Gly2541=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2185122	NM_001457.4(FLNB):c.7449C>T (p.Asn2483=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154052	NM_001457.4(FLNB):c.7125T>C (p.Val2375=)	FLNB-AS1, FLNB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2125719	NM_001457.4(FLNB):c.7092C>T (p.Ser2364=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2121163	NM_001457.4(FLNB):c.7345A>G (p.Asn2449Asp)	FLNB, FLNB-AS1 (N2425D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103861	NM_001457.4(FLNB):c.7264G>A (p.Glu2422Lys)	FLNB, FLNB-AS1 (E2422K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098147	NM_001457.4(FLNB):c.7206G>A (p.Gln2402=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094798	NM_001457.4(FLNB):c.7233A>T (p.Arg2411=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074843	NM_001457.4(FLNB):c.7664C>G (p.Pro2555Arg)	FLNB, FLNB-AS1 (P2544R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2000798	NM_001457.4(FLNB):c.7621+15C>G	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1999725	NM_001457.4(FLNB):c.7245G>T (p.Gly2415=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987946	NM_001457.4(FLNB):c.7198+20C>T	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1986357	NM_001457.4(FLNB):c.7444G>C (p.Ala2482Pro)	FLNB, FLNB-AS1 (A2458P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984935	NM_001457.4(FLNB):c.7505A>G (p.Tyr2502Cys)	FLNB, FLNB-AS1 (Y2502C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984481	NM_001457.4(FLNB):c.7106G>T (p.Ser2369Ile)	FLNB, FLNB-AS1 (S2345I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982539	NM_001457.4(FLNB):c.7441T>C (p.Ser2481Pro)	FLNB, FLNB-AS1 (S2457P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1982479	NM_001457.4(FLNB):c.7122C>T (p.Arg2374=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1967902	NM_001457.4(FLNB):c.7051G>A (p.Glu2351Lys)	FLNB, FLNB-AS1 (E2340K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1964600	NM_001457.4(FLNB):c.7455C>T (p.Thr2485=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960340	NM_001457.4(FLNB):c.7263C>T (p.Ile2421=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953796	NM_001457.4(FLNB):c.7165G>A (p.Ala2389Thr)	FLNB, FLNB-AS1 (A2365T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1952999	NM_001457.4(FLNB):c.7442C>T (p.Ser2481Leu)	FLNB, FLNB-AS1 (S2470L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945780	NM_001457.4(FLNB):c.7199-7C>T	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944451	NM_001457.4(FLNB):c.7418-4T>G	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935739	NM_001457.4(FLNB):c.7550C>T (p.Ser2517Phe)	FLNB, FLNB-AS1 (S2506F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932186	NM_001457.4(FLNB):c.7142C>T (p.Ala2381Val)	FLNB, FLNB-AS1 (A2412V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1925360	NM_001457.4(FLNB):c.7418-14C>T	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924063	NM_001457.4(FLNB):c.7448A>G (p.Asn2483Ser)	FLNB, FLNB-AS1 (N2459S +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1917750	NM_001457.4(FLNB):c.7303C>T (p.Pro2435Ser)	FLNB, FLNB-AS1 (P2424S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907164	NM_001457.4(FLNB):c.7418-20C>T	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1715422	NM_001457.4(FLNB):c.7226C>A (p.Thr2409Asn)	FLNB, FLNB-AS1 (T2385N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679680	NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val)	FLNB, FLNB-AS1 (L2427V +3 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +2 more	GUncertain significance
Select item 1656309	NM_001457.4(FLNB):c.7659C>G (p.Thr2553=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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