ClinVar for Gene (Select 2316) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338567	NM_001110556.2(FLNA):c.3850G>T (p.Ala1284Ser)	FLNA (A1284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337117	NM_001110556.2(FLNA):c.340del (p.Leu114fs)	FLNA (L114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3337116	NM_001110556.2(FLNA):c.5813A>G (p.Tyr1938Cys)	FLNA (Y1930C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279187	NM_001110556.2(FLNA):c.1705A>G (p.Lys569Glu)	FLNA (K569E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279186	NM_001110556.2(FLNA):c.4662G>C (p.Gly1554=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279185	NM_001110556.2(FLNA):c.5316C>A (p.Ala1772=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279184	NM_001110556.2(FLNA):c.2530G>A (p.Gly844Ser)	FLNA (G844S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3279183	NM_001110556.2(FLNA):c.1749C>A (p.Gly583=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279182	NM_001110556.2(FLNA):c.801C>G (p.Ala267=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279181	NM_001110556.2(FLNA):c.835C>T (p.Leu279=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279180	NM_001110556.2(FLNA):c.5414C>T (p.Thr1805Ile)	FLNA (T1797I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3279179	NM_001110556.2(FLNA):c.1192G>A (p.Ala398Thr)	FLNA (A398T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 3279177	NM_001110556.2(FLNA):c.6517G>T (p.Asp2173Tyr)	FLNA (D2173Y +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3279176	NM_001110556.2(FLNA):c.1857T>C (p.Ala619=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279175	NM_001110556.2(FLNA):c.3507G>T (p.Gly1169=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3279174	NM_001110556.2(FLNA):c.1788C>G (p.Asp596Glu)	FLNA (D596E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3279173	NM_001110556.2(FLNA):c.363G>A (p.Leu121=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3256578	NM_001110556.2(FLNA):c.1A>C (p.Met1Leu)	FLNA (M1L)	Single nucleotide variant (missense variant +1 more)	Melnick-Needles syndrome	GLikely pathogenic
Select item 3253336	NM_001110556.2(FLNA):c.5421G>C (p.Glu1807Asp)	FLNA (E1799D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253243	NM_001110556.2(FLNA):c.297C>A (p.Phe99Leu)	FLNA (F99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253185	NM_001110556.2(FLNA):c.2271C>A (p.Ser757Arg)	FLNA (S757R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252400	NM_001110556.2(FLNA):c.6330G>T (p.Glu2110Asp)	FLNA (E2102D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252252	NM_001110556.2(FLNA):c.5204C>T (p.Pro1735Leu)	FLNA (P1727L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251083	NM_001110556.2(FLNA):c.995T>C (p.Val332Ala)	FLNA (V332A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244420	NC_000023.10:g.(?_153577217)_(153581312_?)dup	FLNA	Duplication	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3244409	NC_000023.10:g.(?_153586793)_(153609557_?)dup	EMD, FLNA	Duplication	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3244398	NC_000023.10:g.(?_153577217)_(153649343_?)dup	DNASE1L1, EMD +3 more	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 3244008	NC_000023.10:g.(?_153592370)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	ABCD1, ARHGAP4 +40 more	Deletion	Dyskeratosis congenita +6 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239373	NM_001110556.2(FLNA):c.1470C>T (p.Leu490=)	FLNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +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 disorder	GUncertain significance
Select item 3061312	NM_001110556.2(FLNA):c.3777G>C (p.Gln1259His)	FLNA (Q1259H)	Single nucleotide variant (missense variant)	FLNA-related disorder	GUncertain significance
Select item 3051101	NM_001110556.2(FLNA):c.2280+398T>C	FLNA	Single nucleotide variant (intron variant)	FLNA-related disorder	GLikely benign
Select item 3046220	NM_001110556.2(FLNA):c.5238C>G (p.Pro1746=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related disorder	GLikely benign
Select item 3043809	NM_001110556.2(FLNA):c.4620G>A (p.Leu1540=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related disorder	GLikely benign
Select item 3037223	NM_001110556.2(FLNA):c.4350G>C (p.Lys1450Asn)	FLNA (K1450N)	Single nucleotide variant (missense variant)	FLNA-related disorder	GUncertain significance
Select item 3036433	NM_001110556.2(FLNA):c.2280+399G>C	FLNA	Single nucleotide variant (intron variant)	FLNA-related disorder	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 disorder	GUncertain significance
Select item 3032657	NM_001110556.2(FLNA):c.14A>T (p.His5Leu)	FLNA (H5L)	Single nucleotide variant (missense variant)	FLNA-related disorder	GUncertain significance
Select item 3031499	NM_001110556.2(FLNA):c.4227C>T (p.Ser1409=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related disorder	GLikely benign
Select item 3030544	NM_001110556.2(FLNA):c.996G>A (p.Val332=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related disorder	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	TAF9B, ARMCX2 +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)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2954529	NM_001110556.2(FLNA):c.3805+1G>A	FLNA	Single nucleotide variant (splice donor variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely pathogenic
Select item 2954437	NM_001110556.2(FLNA):c.5218-19T>C	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2954429	NM_001110556.2(FLNA):c.7458C>T (p.Thr2486=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +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)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2954337	NM_001110556.2(FLNA):c.3780C>G (p.Cys1260Trp)	FLNA (C1260W)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2954261	NM_001110556.2(FLNA):c.3301G>T (p.Gly1101Cys)	FLNA (G1101C)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2954130	NM_001110556.2(FLNA):c.2137-11C>T	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2954129	NM_001110556.2(FLNA):c.1266C>T (p.Asp422=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2954044	NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)	FLNA (Q1488E)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GBenign
Select item 2953969	NM_001110556.2(FLNA):c.5450A>G (p.Gln1817Arg)	FLNA (Q1809R +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2953968	NM_001110556.2(FLNA):c.2657-13G>T	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2953948	NM_001110556.2(FLNA):c.1438C>A (p.Pro480Thr)	FLNA (P480T)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2953913	NM_001110556.2(FLNA):c.2023-17G>A	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2953884	NM_001110556.2(FLNA):c.2281-17G>T	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2953846	NM_001110556.2(FLNA):c.901C>A (p.Arg301=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2953759	NM_001110556.2(FLNA):c.2559T>C (p.Ala853=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2953674	NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)	FLNA (I2166fs +1 more)	Deletion (frameshift variant)	Heterotopia, periventricular, X-linked dominant +3 more	GPathogenic
Select item 2953666	NM_001110556.2(FLNA):c.6002G>T (p.Arg2001Leu)	FLNA (R2001L +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2953630	NM_001110556.2(FLNA):c.3150G>A (p.Val1050=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2953556	NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)	FLNA, LOC107988032 (S2550K +1 more)	Indel (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2953488	NM_001110556.2(FLNA):c.16T>G (p.Ser6Ala)	FLNA (S6A)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2953487	NM_001110556.2(FLNA):c.81G>C (p.Glu27Asp)	FLNA (E27D)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2953485	NM_001110556.2(FLNA):c.622+6G>C	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +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)	Heterotopia, periventricular, X-linked dominant +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)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2953045	NM_001110556.2(FLNA):c.6503-3C>T	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2952952	NM_001110556.2(FLNA):c.1944G>A (p.Leu648=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2952950	NM_001110556.2(FLNA):c.1692-13C>T	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2952930	NM_001110556.2(FLNA):c.4834G>T (p.Val1612Leu)	FLNA (V1612L)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2952877	NM_001110556.2(FLNA):c.987+11C>A	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2952855	NM_001110556.2(FLNA):c.3189C>T (p.Ala1063=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2952774	NM_001110556.2(FLNA):c.1940T>G (p.Val647Gly)	FLNA (V647G)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +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)	Heterotopia, periventricular, X-linked dominant +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)	Heterotopia, periventricular, X-linked dominant +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)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2952465	NM_001110556.2(FLNA):c.1882G>T (p.Asp628Tyr)	FLNA (D628Y)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2952399	NM_001110556.2(FLNA):c.5417-18A>C	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance

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