Related gene-specific medical variations for Gene (Select 2316) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279178	NM_001110556.2(FLNA):c.7841A>G (p.Tyr2614Cys)	FLNA, LOC107988032 (Y2606C +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3244420	NC_000023.10:g.(?_153577217)_(153581312_?)dup	FLNA	Duplication	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3244387	NC_000023.10:g.(?_153577217)_(153583460_?)del	FLNA	Deletion	Melnick-Needles syndrome +3 more	GPathogenic
Select item 3236635	NM_001110556.2(FLNA):c.3410A>G (p.Asn1137Ser)	FLNA (N1137S)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type I +1 more	GUncertain significance
Select item 2953556	NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)	FLNA, LOC107988032 (S2550K +1 more)	Indel (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951884	NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)	FLNA, LOC107988032 (G2616A +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951804	NM_001110556.2(FLNA):c.7564_7566del (p.Val2522del)	FLNA, LOC107988032 (V2522del +1 more)	Deletion (inframe_deletion)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2950660	NM_001110556.2(FLNA):c.7756+6C>A	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2948115	NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val)	FLNA, LOC107988032 (A2547V +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2947825	NM_001110556.2(FLNA):c.7579C>A (p.Leu2527Ile)	FLNA, LOC107988032 (L2527I +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2947166	NM_001110556.2(FLNA):c.7860C>G (p.Leu2620=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 2943911	NM_001110556.2(FLNA):c.7756+2T>A	FLNA, LOC107988032	Single nucleotide variant (splice donor variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2942589	NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)	FLNA, LOC107988032 (Q2546* +1 more)	Single nucleotide variant (nonsense)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 2942370	NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)	FLNA, LOC107988032 (V2636L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GLikely pathogenic
Select item 2941662	NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)	FLNA, LOC107988032 (P2597S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2938638	NM_001110556.2(FLNA):c.7757-15C>T	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2938148	NM_001110556.2(FLNA):c.7612C>G (p.Leu2538Val)	FLNA, LOC107988032 (L2530V +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2938012	NM_001110556.2(FLNA):c.7899G>A (p.Gly2633=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2936395	NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)	LOC107988032, FLNA (W2624L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2932191	NM_001110556.2(FLNA):c.7757-20G>C	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2930638	NM_001110556.2(FLNA):c.7761C>T (p.Asn2587=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2930448	NM_001110556.2(FLNA):c.7779G>T (p.Gly2593=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2928818	NM_001110556.2(FLNA):c.7554C>G (p.Gly2518=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2926854	NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)	FLNA, LOC107988032 (V2564A +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 2926289	NM_001110556.2(FLNA):c.7653T>G (p.Gly2551=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 2921110	NM_001110556.2(FLNA):c.7900G>A (p.Asp2634Asn)	FLNA, LOC107988032 (D2626N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692562	NM_001110556.2(FLNA):c.7732T>C (p.Phe2578Leu)	FLNA, LOC107988032 (F2570L +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 1	GLikely pathogenic
Select item 2691498	NM_001110556.2(FLNA):c.*11C>T	FLNA, LOC107988032	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2684194	NM_001110556.2(FLNA):c.623-2A>G	FLNA	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2683599	NM_001110556.2(FLNA):c.7582C>T (p.His2528Tyr)	FLNA, LOC107988032 (H2520Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665067	NM_001110556.2(FLNA):c.5861-4C>G	FLNA	Single nucleotide variant (intron variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 2637355	NM_001110556.2(FLNA):c.7720C>A (p.Gln2574Lys)	FLNA, LOC107988032 (Q2566K +1 more)	Single nucleotide variant (missense variant)	FLNA-related disorder	GUncertain significance
Select item 2627738	NM_001110556.2(FLNA):c.2941G>T (p.Glu981Ter)	FLNA (E981*)	Single nucleotide variant (nonsense)	Heterotopia, periventricular, X-linked dominant	GPathogenic
Select item 2627737	NM_001110556.2(FLNA):c.7880_7883dup (p.Val2629fs)	FLNA, LOC107988032 (V2621fs +1 more)	Duplication (frameshift variant)	Heterotopia, periventricular, X-linked dominant	GPathogenic
Select item 2507375	NM_001110556.2(FLNA):c.7761C>A (p.Asn2587Lys)	FLNA, LOC107988032 (N2579K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441890	NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)	FLNA (V1253E)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 2441471	NM_001110556.2(FLNA):c.2904C>A (p.Ser968Arg)	FLNA (S968R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441470	NM_001110556.2(FLNA):c.7168G>A (p.Val2390Met)	FLNA (V2382M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441467	NM_001110556.2(FLNA):c.4889C>T (p.Ser1630Phe)	FLNA (S1630F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441466	NM_001110556.2(FLNA):c.6436C>T (p.Arg2146Cys)	FLNA (R2138C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441465	NM_001110556.2(FLNA):c.1793T>G (p.Val598Gly)	FLNA (V598G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441464	NM_001110556.2(FLNA):c.5542A>G (p.Asn1848Asp)	FLNA (N1840D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440288	NM_001110556.2(FLNA):c.2596_2599del (p.Val866fs)	FLNA (V866fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2429452	NM_001110556.2(FLNA):c.7930G>A (p.Val2644Ile)	FLNA, LOC107988032 (V2636I +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GUncertain significance
Select item 2428664	NM_001110556.2(FLNA):c.4599-3C>T	FLNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2261415	NM_001110556.2(FLNA):c.7587G>C (p.Glu2529Asp)	FLNA, LOC107988032 (E2521D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2202280	NM_001110556.2(FLNA):c.7869G>A (p.Lys2623=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2195506	NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)	FLNA, LOC107988032 (P2545A +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 2194112	NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)	FLNA, LOC107988032 (R2590K +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2184072	NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)	FLNA, LOC107988032 (T2619R +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +3 more	GBenign
Select item 2182355	NM_001110556.2(FLNA):c.7837C>G (p.Leu2613Val)	FLNA, LOC107988032 (L2613V +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2179546	NM_001110556.2(FLNA):c.7908C>T (p.His2636=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 2163794	NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp)	FLNA, LOC107988032 (A2536D +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2145919	NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile)	FLNA, LOC107988032 (T2531I +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +3 more	GUncertain significance
Select item 2109071	NM_001110556.2(FLNA):c.7757-5C>G	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2107975	NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe)	FLNA, LOC107988032 (C2543F +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2087779	NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu)	FLNA, LOC107988032 (Q2538E +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +3 more	GUncertain significance
Select item 2034539	NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)	FLNA, LOC107988032 (V2560A +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +5 more	GUncertain significance
Select item 2009796	NM_001110556.2(FLNA):c.7848G>A (p.Val2616=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Frontometaphyseal dysplasia +3 more	GLikely benign
Select item 2004353	NM_001110556.2(FLNA):c.7605A>G (p.Val2535=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Frontometaphyseal dysplasia +3 more	GLikely benign
Select item 1954588	NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala)	FLNA, LOC107988032 (V2580A +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1944750	NM_001110556.2(FLNA):c.7553-7C>T	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1931142	NM_001110556.2(FLNA):c.7554C>T (p.Gly2518=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 1895821	NM_001110556.2(FLNA):c.7900G>T (p.Asp2634Tyr)	FLNA, LOC107988032 (D2634Y +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 1895504	NM_001110556.2(FLNA):c.7607A>T (p.Asp2536Val)	FLNA, LOC107988032 (D2536V +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 1803247	NM_001110556.2(FLNA):c.7913C>T (p.Pro2638Leu)	FLNA, LOC107988032 (P2630L +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 1	GUncertain significance
Select item 1761201	NM_001110556.2(FLNA):c.7941C>T (p.Pro2647=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1761197	NM_001110556.2(FLNA):c.7938G>T (p.Val2646=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1761193	NM_001110556.2(FLNA):c.7935G>A (p.Val2645=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1760900	NM_001110556.2(FLNA):c.7875G>A (p.Glu2625=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1760823	NM_001110556.2(FLNA):c.7860C>A (p.Leu2620=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1760747	NM_001110556.2(FLNA):c.7836G>A (p.Arg2612=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1760573	NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1760466	NM_001110556.2(FLNA):c.7776G>A (p.Val2592=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1759675	NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)	FLNA, LOC107988032 (A2533V +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 1759595	NM_001110556.2(FLNA):c.7599G>A (p.Val2533=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 1701048	NM_001110556.2(FLNA):c.7775T>G (p.Val2592Gly)	FLNA, LOC107988032 (V2584G +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1700827	NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala)	FLNA, LOC107988032 (V2608A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1684467	NM_001110556.2(FLNA):c.7583A>T (p.His2528Leu)	FLNA, LOC107988032 (H2520L +1 more)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GUncertain significance
Select item 1669616	NM_001110556.2(FLNA):c.7644G>A (p.Gly2548=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 1654614	NM_001110556.2(FLNA):c.7677G>A (p.Lys2559=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1600863	NM_001110556.2(FLNA):c.7756+20G>T	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GBenign
Select item 1574618	NM_001110556.2(FLNA):c.7887G>A (p.Val2629=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 1570463	NM_001110556.2(FLNA):c.7756+12G>A	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 1563245	NM_001110556.2(FLNA):c.7665T>C (p.Ala2555=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 1541277	NM_001110556.2(FLNA):c.7857G>A (p.Leu2619=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Frontometaphyseal dysplasia +3 more	GLikely benign
Select item 1524454	NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	FLNA, LOC107988032 (R2612W +1 more)	Single nucleotide variant (missense variant)	FLNA-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1493475	NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu)	FLNA, LOC107988032 (P2537L +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +3 more	GUncertain significance
Select item 1467131	NM_001110556.2(FLNA):c.7556C>G (p.Pro2519Arg)	FLNA, LOC107988032 (P2511R +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 1447290	NM_001110556.2(FLNA):c.7757-5del	FLNA, LOC107988032	Deletion (intron variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 1396399	NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr)	FLNA, LOC107988032 (P2592T +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1391252	NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly)	FLNA, LOC107988032 (R2635G +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1388776	NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser)	FLNA, LOC107988032 (A2544S +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 1385334	NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro)	FLNA, LOC107988032 (R2643P +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 1376875	NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys)	FLNA, LOC107988032 (W2624C +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +3 more	GUncertain significance
Select item 1354317	NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg)	FLNA, LOC107988032 (G2543R +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 1341468	NM_001110556.2(FLNA):c.7671del (p.Ser2558fs)	FLNA, LOC107988032 (S2550fs +1 more)	Deletion (frameshift variant)	Patent ductus arteriosus +2 more	GPathogenic
Select item 1327210	NM_001110556.2(FLNA):c.7563C>T (p.Leu2521=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +5 more	GLikely benign
Select item 1325474	NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile)	FLNA (V347I)	Single nucleotide variant	Melnick-Needles syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1324417	NM_001110556.2(FLNA):c.7900del (p.Asp2634fs)	FLNA, LOC107988032 (D2626fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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