FLNB-AS1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 178

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 57729	GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3	ABHD6, DNASE1L3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 726851	NM_001457.4(FLNB):c.7022-10A>G	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 21297	NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter)	FLNB, FLNB-AS1 (Y2343* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylocarpotarsal synostosis syndrome	Gnot provided
Select item 1417463	NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys)	FLNB, FLNB-AS1 (R2322C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1134080	NM_001457.4(FLNB):c.7037G>A (p.Arg2346His)	FLNB, FLNB-AS1 (R2322H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1591809	NM_001457.4(FLNB):c.7038C>T (p.Arg2346=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 346361	NM_001457.4(FLNB):c.7041C>A (p.Phe2347Leu)	FLNB, FLNB-AS1 (F2347L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
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 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 2796316	NM_001457.4(FLNB):c.7060G>A (p.Val2354Ile)	FLNB, FLNB-AS1 (V2343I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821098	NM_001457.4(FLNB):c.7063C>G (p.His2355Asp)	FLNB, FLNB-AS1 (H2344D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 346362	NM_001457.4(FLNB):c.7065C>T (p.His2355=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 2726289	NM_001457.4(FLNB):c.7096G>A (p.Val2366Met)	FLNB, FLNB-AS1 (V2397M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 346363	NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile)	FLNB, FLNB-AS1 (V2367I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-Related Spectrum Disorders +2 more	GBenign/Likely benign
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 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 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 346364	NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys)	FLNB, FLNB-AS1 (R2374C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 1518688	NM_001457.4(FLNB):c.7121G>A (p.Arg2374His)	FLNB, FLNB-AS1 (R2374H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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	GLikely benign
Select item 2416820	NM_001457.4(FLNB):c.7124T>C (p.Val2375Ala)	FLNB, FLNB-AS1 (V2351A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2154052	NM_001457.4(FLNB):c.7125T>C (p.Val2375=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-related disorder +1 more	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 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)	not provided +1 more	GUncertain significance
Select item 736108	NM_001457.4(FLNB):c.7143G>A (p.Ala2381=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1306340	NM_001457.4(FLNB):c.7162T>C (p.Ser2388Pro)	FLNB, FLNB-AS1 (S2364P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 508938	NM_001457.4(FLNB):c.7164C>T (p.Ser2388=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
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 346365	NM_001457.4(FLNB):c.7167C>T (p.Ala2389=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 2979708	NM_001457.4(FLNB):c.7169A>G (p.Tyr2390Cys)	FLNB, FLNB-AS1 (Y2390C +3 more)	Single nucleotide variant (missense variant +1 more)	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 (missense 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 903336	NM_001457.4(FLNB):c.7176G>A (p.Thr2392=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant +1 more)	FLNB-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 903337	NM_001457.4(FLNB):c.7182C>T (p.Leu2394=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 903338	NM_001457.4(FLNB):c.7183G>A (p.Glu2395Lys)	FLNB, FLNB-AS1 (E2395K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-Related Spectrum Disorders +1 more	GBenign/Likely benign
Select item 1461473	NM_001457.4(FLNB):c.7187G>C (p.Gly2396Ala)	FLNB, FLNB-AS1 (G2372A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1372344	NM_001457.4(FLNB):c.7187G>A (p.Gly2396Glu)	FLNB, FLNB-AS1 (G2372E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2812030	NM_001457.4(FLNB):c.7189G>A (p.Gly2397Ser)	FLNB, FLNB-AS1 (G2386S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1499884	NM_001457.4(FLNB):c.7198+6C>T	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 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 513583	NM_001457.4(FLNB):c.7198+20C>G	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1294032	NM_001457.4(FLNB):c.7199-283A>C	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243480	NM_001457.4(FLNB):c.7199-199G>A	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1125251	NM_001457.4(FLNB):c.7199-8T>C	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2098147	NM_001457.4(FLNB):c.7206G>A (p.Gln2402=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 258121	NM_001457.4(FLNB):c.7209G>A (p.Ser2403=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 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 1595170	NM_001457.4(FLNB):c.7232G>A (p.Arg2411Gln)	FLNB, FLNB-AS1 (R2387Q +3 more)	Single nucleotide variant (missense 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 1303414	NM_001457.4(FLNB):c.7238G>A (p.Gly2413Asp)	FLNB, FLNB-AS1 (G2389D +3 more)	Single nucleotide variant (missense variant)	not provided	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 1999725	NM_001457.4(FLNB):c.7245G>T (p.Gly2415=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2987432	NM_001457.4(FLNB):c.7248A>G (p.Thr2416=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 197500	NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 385862	NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile)	FLNB, FLNB-AS1 (V2419I +3 more)	Single nucleotide variant (missense variant)	FLNB-related disorder +2 more	GConflicting classifications of pathogenicity
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 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 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 1361297	NM_001457.4(FLNB):c.7273T>A (p.Ser2425Thr)	FLNB, FLNB-AS1 (S2456T +3 more)	Single nucleotide variant (missense variant)	not provided	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 197501	NM_001457.4(FLNB):c.7301C>T (p.Thr2434Ile)	FLNB, FLNB-AS1 (T2434I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 899724	NM_001457.4(FLNB):c.7311G>A (p.Gly2437=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	FLNB-Related Spectrum Disorders	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 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 1311577	NM_001457.4(FLNB):c.7327A>G (p.Thr2443Ala)	FLNB, FLNB-AS1 (T2419A +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 2881067	NM_001457.4(FLNB):c.7350C>T (p.Tyr2450=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679680	NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val)	FLNB, FLNB-AS1 (L2427V +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome +2 more	GUncertain significance
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 258122	NM_001457.4(FLNB):c.7359C>T (p.Ser2453=)	FLNB-AS1, FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 516077	NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile)	FLNB, FLNB-AS1 (V2454I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 1041052	NM_001457.4(FLNB):c.7373G>A (p.Gly2458Glu)	FLNB, FLNB-AS1 (G2434E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351109	NM_001457.4(FLNB):c.7379A>G (p.Asn2460Ser)	FLNB, FLNB-AS1 (N2449S +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 1414314	NM_001457.4(FLNB):c.7385T>C (p.Ile2462Thr)	FLNB, FLNB-AS1 (I2493T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 899725	NM_001457.4(FLNB):c.7417+5C>T	FLNB-AS1, FLNB	Single nucleotide variant (intron variant)	FLNB-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 2973039	NM_001457.4(FLNB):c.7417+20G>A	FLNB, FLNB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2