ClinVar for Gene (Select 2316) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3221698	NM_001110556.2(FLNA):c.4917C>G (p.Thr1639=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221697	NM_001110556.2(FLNA):c.406C>T (p.Leu136=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221696	NM_001110556.2(FLNA):c.3720G>A (p.Val1240=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221695	NM_001110556.2(FLNA):c.3393C>G (p.Pro1131=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221694	NM_001110556.2(FLNA):c.237G>A (p.Ala79=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3221693	NM_001110556.2(FLNA):c.126G>A (p.Lys42=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	ABCD1, ACTRT1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	ABCD1, ACTRT1 +221 more	Copy number loss	not provided	GPathogenic
Select item 3095653	NM_001110556.2(FLNA):c.524G>A (p.Trp175Ter)	FLNA (W175*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 3062554	GRCh37/hg19 Xq28(chrX:153200064-153624564)	EMD, FLNA +11 more	Copy number gain	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3061389	NM_001110556.2(FLNA):c.3364T>C (p.Cys1122Arg)	FLNA (C1122R)	Single nucleotide variant (missense variant)	FLNA-related condition	GUncertain significance
Select item 3061312	NM_001110556.2(FLNA):c.3777G>C (p.Gln1259His)	FLNA (Q1259H)	Single nucleotide variant (missense variant)	FLNA-related condition	GUncertain significance
Select item 3051101	NM_001110556.2(FLNA):c.2280+398T>C	FLNA	Single nucleotide variant (intron variant)	FLNA-related condition	GLikely benign
Select item 3046220	NM_001110556.2(FLNA):c.5238C>G (p.Pro1746=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related condition	GLikely benign
Select item 3043809	NM_001110556.2(FLNA):c.4620G>A (p.Leu1540=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related condition	GLikely benign
Select item 3037223	NM_001110556.2(FLNA):c.4350G>C (p.Lys1450Asn)	FLNA (K1450N)	Single nucleotide variant (missense variant)	FLNA-related condition	GUncertain significance
Select item 3036433	NM_001110556.2(FLNA):c.2280+399G>C	FLNA	Single nucleotide variant (intron variant)	FLNA-related condition	GLikely benign
Select item 3035425	NM_001110556.2(FLNA):c.7354G>A (p.Val2452Met)	FLNA (V2444M +1 more)	Single nucleotide variant (missense variant)	FLNA-related condition	GUncertain significance
Select item 3032657	NM_001110556.2(FLNA):c.14A>T (p.His5Leu)	FLNA (H5L)	Single nucleotide variant (missense variant)	FLNA-related condition	GUncertain significance
Select item 3031499	NM_001110556.2(FLNA):c.4227C>T (p.Ser1409=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related condition	GLikely benign
Select item 3030544	NM_001110556.2(FLNA):c.996G>A (p.Val332=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related condition	GLikely benign
Select item 3026882	NM_001110556.2(FLNA):c.122G>T (p.Trp41Leu)	FLNA (W41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025906	NM_001110556.2(FLNA):c.4514G>A (p.Gly1505Asp)	FLNA (G1505D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025185	NM_001110556.2(FLNA):c.1332C>T (p.Cys444=)	FLNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2954539	NM_001110556.2(FLNA):c.2789ACA[1] (p.Asn931del)	FLNA (N931del)	Microsatellite (inframe_deletion)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2954529	NM_001110556.2(FLNA):c.3805+1G>A	FLNA	Single nucleotide variant (splice donor variant)	Oto-palato-digital syndrome, type II +3 more	GLikely pathogenic
Select item 2954437	NM_001110556.2(FLNA):c.5218-19T>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2954429	NM_001110556.2(FLNA):c.7458C>T (p.Thr2486=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2954384	NM_001110556.2(FLNA):c.6101C>A (p.Pro2034His)	FLNA (P2034H +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2954337	NM_001110556.2(FLNA):c.3780C>G (p.Cys1260Trp)	FLNA (C1260W)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2954261	NM_001110556.2(FLNA):c.3301G>T (p.Gly1101Cys)	FLNA (G1101C)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2954130	NM_001110556.2(FLNA):c.2137-11C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2954129	NM_001110556.2(FLNA):c.1266C>T (p.Asp422=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2954044	NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)	FLNA (Q1488E)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 2953969	NM_001110556.2(FLNA):c.5450A>G (p.Gln1817Arg)	FLNA (Q1809R +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953968	NM_001110556.2(FLNA):c.2657-13G>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2953948	NM_001110556.2(FLNA):c.1438C>A (p.Pro480Thr)	FLNA (P480T)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953913	NM_001110556.2(FLNA):c.2023-17G>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2953884	NM_001110556.2(FLNA):c.2281-17G>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2953846	NM_001110556.2(FLNA):c.901C>A (p.Arg301=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2953759	NM_001110556.2(FLNA):c.2559T>C (p.Ala853=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2953674	NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)	FLNA (I2166fs +1 more)	Deletion (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 2953666	NM_001110556.2(FLNA):c.6002G>T (p.Arg2001Leu)	FLNA (R2001L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953630	NM_001110556.2(FLNA):c.3150G>A (p.Val1050=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
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 2953488	NM_001110556.2(FLNA):c.16T>G (p.Ser6Ala)	FLNA (S6A)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953487	NM_001110556.2(FLNA):c.81G>C (p.Glu27Asp)	FLNA (E27D)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953485	NM_001110556.2(FLNA):c.622+6G>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953344	NM_001110556.2(FLNA):c.6023G>A (p.Gly2008Glu)	FLNA (G2008E +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953296	NM_001110556.2(FLNA):c.7295T>G (p.Val2432Gly)	FLNA (V2432G +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2953045	NM_001110556.2(FLNA):c.6503-3C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952952	NM_001110556.2(FLNA):c.1944G>A (p.Leu648=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2952950	NM_001110556.2(FLNA):c.1692-13C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2952930	NM_001110556.2(FLNA):c.4834G>T (p.Val1612Leu)	FLNA (V1612L)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952877	NM_001110556.2(FLNA):c.987+11C>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2952855	NM_001110556.2(FLNA):c.3189C>T (p.Ala1063=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2952774	NM_001110556.2(FLNA):c.1940T>G (p.Val647Gly)	FLNA (V647G)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952719	NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)	FLNA (V2132fs +1 more)	Microsatellite (frameshift variant)	Heterotopia, periventricular, X-linked dominant +3 more	GPathogenic
Select item 2952680	NM_001110556.2(FLNA):c.3855G>C (p.Leu1285=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2952552	NM_001110556.2(FLNA):c.5698C>G (p.Leu1900Val)	FLNA (L1900V +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952485	NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg)	FLNA (K1937R +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952465	NM_001110556.2(FLNA):c.1882G>T (p.Asp628Tyr)	FLNA (D628Y)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952399	NM_001110556.2(FLNA):c.5417-18A>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952384	NM_001110556.2(FLNA):c.2650C>A (p.Arg884Ser)	FLNA (R884S)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 2952289	NM_001110556.2(FLNA):c.3805+2T>C	FLNA	Single nucleotide variant (splice donor variant)	Oto-palato-digital syndrome, type II +3 more	GLikely pathogenic
Select item 2952152	NM_001110556.2(FLNA):c.3574G>A (p.Glu1192Lys)	FLNA (E1192K)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952045	NM_001110556.2(FLNA):c.6789C>T (p.Thr2263=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2952012	NM_001110556.2(FLNA):c.4064C>T (p.Pro1355Leu)	FLNA (P1355L)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2952009	NM_001110556.2(FLNA):c.3798G>A (p.Glu1266=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
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 2951841	NM_001110556.2(FLNA):c.2527G>T (p.Ala843Ser)	FLNA (A843S)	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 2951757	NM_001110556.2(FLNA):c.545A>G (p.Gln182Arg)	FLNA (Q182R)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951654	NM_001110556.2(FLNA):c.5873T>A (p.Met1958Lys)	FLNA (M1950K +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951549	NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln)	FLNA (R301Q)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 2951543	NM_001110556.2(FLNA):c.5687-15C>G	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2951542	NM_001110556.2(FLNA):c.5785C>T (p.Pro1929Ser)	FLNA (P1929S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951159	NM_001110556.2(FLNA):c.3203G>C (p.Ser1068Thr)	FLNA (S1068T)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951126	NM_001110556.2(FLNA):c.2879C>G (p.Pro960Arg)	FLNA (P960R)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951097	NM_001110556.2(FLNA):c.4333G>A (p.Val1445Met)	FLNA (V1445M)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2951035	NM_001110556.2(FLNA):c.917_918del (p.Val306fs)	FLNA (V306fs)	Microsatellite (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 2950922	NM_001110556.2(FLNA):c.2254G>C (p.Val752Leu)	FLNA (V752L)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2950787	NM_001110556.2(FLNA):c.3498A>C (p.Ser1166=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2950706	NM_001110556.2(FLNA):c.1707G>A (p.Lys569=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2950675	NM_001110556.2(FLNA):c.484G>A (p.Glu162Lys)	FLNA (E162K)	Single nucleotide variant (missense variant)	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 2950628	NM_001110556.2(FLNA):c.3822C>T (p.Ala1274=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2950598	NM_001110556.2(FLNA):c.3980-6C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2950478	NM_001110556.2(FLNA):c.2786A>G (p.His929Arg)	FLNA (H929R)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2950372	NM_001110556.2(FLNA):c.2136+18_2136+19del	FLNA	Microsatellite (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2950311	NM_001110556.2(FLNA):c.7156+3G>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2950302	NM_001110556.2(FLNA):c.6971C>T (p.Pro2324Leu)	FLNA (P2324L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2950152	NM_001110556.2(FLNA):c.1169G>T (p.Gly390Val)	FLNA (G390V)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2950095	NM_001110556.2(FLNA):c.2395G>A (p.Ala799Thr)	FLNA (A799T)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2949999	NM_001110556.2(FLNA):c.5919C>T (p.Ile1973=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2949958	NM_001110556.2(FLNA):c.228G>A (p.Arg76=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2949924	NM_001110556.2(FLNA):c.1931C>T (p.Ala644Val)	FLNA (A644V)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance

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