Related gene-specific medical variations for Gene (Select 2317) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3515922	NM_001457.4(FLNB):c.2532T>G (p.Asp844Glu)	FLNB, LOC129936935 (D844E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3515920	NM_001457.4(FLNB):c.7147A>G (p.Asn2383Asp)	FLNB, FLNB-AS1 (N2383D +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3515915	NM_001457.4(FLNB):c.7478T>C (p.Val2493Ala)	FLNB, FLNB-AS1 (V2482A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3515913	NM_001457.4(FLNB):c.7315A>G (p.Lys2439Glu)	FLNB, FLNB-AS1 (K2415E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393152	NM_001457.4(FLNB):c.3239C>T (p.Pro1080Leu)	FLNB (P1080L)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome	GUncertain significance
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 3382019	NM_001457.4(FLNB):c.1652A>T (p.Lys551Ile)	FLNB (K551I)	Single nucleotide variant (missense variant)	Boomerang dysplasia +4 more	GUncertain significance
Select item 3370639	NM_001457.4(FLNB):c.2520C>A (p.Asp840Glu)	FLNB, LOC129936935 (D840E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366935	NM_001457.4(FLNB):c.3282_3283insAGCA (p.Cys1095fs)	FLNB (C1095fs)	Insertion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 3361834	NM_001457.4(FLNB):c.6368A>C (p.Glu2123Ala)	FLNB (E2099A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361778	NM_001457.4(FLNB):c.4037C>A (p.Pro1346His)	FLNB (P1346H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359618	NM_001457.4(FLNB):c.1564A>G (p.Arg522Gly)	FLNB (R522G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359546	NM_001457.4(FLNB):c.913G>A (p.Val305Met)	FLNB (V305M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3246975	NC_000003.11:g.(?_58062753)_(58067523_?)del	FLNB	Deletion	not provided	GUncertain significance
Select item 3246974	NC_000003.11:g.(?_58062753)_(58064561_?)del	FLNB	Deletion	not provided	GPathogenic
Select item 3246973	NC_000003.11:g.(?_57994292)_(57994603_?)del	FLNB	Deletion	not provided	GPathogenic
Select item 3235076	NM_001457.4(FLNB):c.4520T>C (p.Phe1507Ser)	FLNB (F1507S +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	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 3095659	NM_001457.4(FLNB):c.2549C>T (p.Ala850Val)	FLNB, LOC129936935 (A850V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065036	NM_001457.4(FLNB):c.5025del (p.Tyr1676fs)	FLNB (Y1676fs +1 more)	Deletion (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
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 2984819	NM_001457.4(FLNB):c.2550A>C (p.Ala850=)	FLNB, LOC129936935	Single nucleotide variant (synonymous variant)	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 2970031	NM_001457.4(FLNB):c.2485-4A>G	FLNB, LOC129936935	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 2861365	NM_001457.4(FLNB):c.2530G>A (p.Asp844Asn)	FLNB, LOC129936935 (D844N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2857740	NM_001457.4(FLNB):c.2575+10C>T	FLNB, LOC129936935	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844733	NM_001457.4(FLNB):c.2521C>T (p.Pro841Ser)	FLNB, LOC129936935 (P841S)	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 2825223	NM_001457.4(FLNB):c.2561G>A (p.Gly854Glu)	FLNB, LOC129936935 (G854E)	Single nucleotide variant (missense variant)	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 2764648	NM_001457.4(FLNB):c.2548G>A (p.Ala850Thr)	FLNB, LOC129936935 (A850T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2689072	NM_001457.4(FLNB):c.5101A>G (p.Thr1701Ala)	FLNB (T1701A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653919	NC_000003.12:g.58179951G>A	FLNB	Single nucleotide variant	not provided	GLikely benign
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 2573059	NM_001457.4(FLNB):c.6994G>A (p.Glu2332Lys)	FLNB (E2308K +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 2507300	NM_001457.4(FLNB):c.2501C>T (p.Pro834Leu)	FLNB, LOC129936935 (P834L)	Single nucleotide variant (missense variant)	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 2441480	NM_001457.4(FLNB):c.1748G>A (p.Gly583Glu)	FLNB (G583E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441479	NM_001457.4(FLNB):c.3625G>A (p.Gly1209Ser)	FLNB (G1209S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441477	NM_001457.4(FLNB):c.3603G>A (p.Met1201Ile)	FLNB (M1201I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441476	NM_001457.4(FLNB):c.6367+3G>A	FLNB	Single nucleotide variant (intron variant)	not provided	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 2441474	NM_001457.4(FLNB):c.83A>T (p.Glu28Val)	FLNB (E28V)	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 2440293	NM_001457.4(FLNB):c.3420del (p.Pro1141fs)	FLNB (P1141fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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

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