ClinVar for MedGen (Select 78083) - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382665	NM_001110556.2(FLNA):c.5293C>T (p.Gln1765Ter)	FLNA (Q1757* +1 more)	Single nucleotide variant (nonsense)	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 3382382	NM_001110556.2(FLNA):c.6709_6710dup (p.Ala2238fs)	FLNA (A2230fs +1 more)	Duplication (frameshift variant)	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 3367185	NM_001110556.2(FLNA):c.289C>T (p.Pro97Ser)	FLNA (P97S)	Single nucleotide variant (missense variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +8 more	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 2584579	NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)	FLNA (A128T)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 2500033	NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +9 more	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 2086251	NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)	FLNA (G1213S)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 1992401	NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)	FLNA (T1322M)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked +4 more	GConflicting classifications of pathogenicity
Select item 1699263	NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp)	FLNA (G2215W +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 1695738	NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly)	FLNA (E1577G)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +9 more	GUncertain significance
Select item 1524454	NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	FLNA, LOC107988032 (R2612W +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked +4 more	GConflicting classifications of pathogenicity
Select item 1500525	NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)	FLNA (T1542I)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 1381935	NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)	FLNA (I822V)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +9 more	GUncertain significance
Select item 1315272	NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln)	FLNA (R226Q)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked +5 more	GUncertain significance
Select item 1299704	NM_001110556.2(FLNA):c.2228A>C (p.His743Pro)	FLNA (H743P)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	Gnot provided
Select item 1210296	NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)	FLNA (V1509I)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +5 more	GUncertain significance
Select item 1147769	NM_001110556.2(FLNA):c.2316C>A (p.Val772=)	FLNA	Single nucleotide variant (synonymous variant)	FG syndrome 2 +9 more	GLikely benign
Select item 1063162	NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)	FLNA (V864F)	Single nucleotide variant (missense variant)	FG syndrome 2 +9 more	GConflicting classifications of pathogenicity
Select item 1041672	NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)	FLNA (H354Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +11 more	GUncertain significance
Select item 1033846	NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala)	FLNA (V1666A +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 1033845	NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)	FLNA (R1296C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 1030401	NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)	FLNA (M450T)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1024355	NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp)	FLNA (E159D)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 1011953	NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)	FLNA (E798K)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +10 more	GConflicting classifications of pathogenicity
Select item 996894	NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu)	FLNA (P1468L)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GUncertain significance
Select item 939032	NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)	FLNA (K994R)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +9 more	GConflicting classifications of pathogenicity
Select item 931632	NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys)	FLNA (Y1422C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931568	NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)	FLNA (P637L)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GPathogenic
Select item 931380	NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)	FLNA (V1231I)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +4 more	GUncertain significance
Select item 931351	NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)	FLNA (E642*)	Single nucleotide variant (nonsense)	Heterotopia, periventricular, X-linked dominant +1 more	GPathogenic/Likely pathogenic
Select item 930545	NM_001110556.2(FLNA):c.622+5G>C	FLNA	Single nucleotide variant (intron variant)	Cardiac valvular dysplasia, X-linked	GLikely pathogenic
Select item 930326	NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)	FLNA (D823N)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +4 more	GConflicting classifications of pathogenicity
Select item 871720	NM_001110556.2(FLNA):c.4750_4755+18del	FLNA	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 699931	NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +9 more	GLikely benign
Select item 661868	NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)	FLNA (T608M)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +11 more	GUncertain significance
Select item 638848	NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)	FLNA, LOC107988032 (V2616M +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +6 more	GUncertain significance
Select item 635975	NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)	FLNA (G1554R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 635974	NM_001110556.2(FLNA):c.1829-1G>C	FLNA	Single nucleotide variant (splice acceptor variant)	Cardiac valvular dysplasia, X-linked	GPathogenic
Select item 625951	NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)	FLNA (K165R)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 625950	NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)	FLNA (T402A)	Single nucleotide variant (missense variant)	FG syndrome 2 +8 more	GUncertain significance
Select item 625949	NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +11 more	GLikely benign
Select item 625948	NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)	FLNA (F1438L)	Single nucleotide variant (missense variant)	FG syndrome 2 +8 more	GUncertain significance
Select item 588806	NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)	FLNA (M424V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +11 more	GConflicting classifications of pathogenicity
Select item 588552	NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)	FLNA (T992A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 588444	NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)	FLNA (R340H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 548502	NM_001110556.2(FLNA):c.546G>C (p.Gln182His)	FLNA (Q182H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 533584	NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)	FLNA (A2235G +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked +7 more	GConflicting classifications of pathogenicity
Select item 533577	NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)	FLNA (P2118S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +10 more	GConflicting classifications of pathogenicity
Select item 508448	NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +10 more	GLikely benign
Select item 498636	NM_001110556.2(FLNA):c.4474+3G>T	FLNA	Single nucleotide variant (intron variant)	not provided +11 more	GUncertain significance
Select item 465015	NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)	FLNA (R2280H +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +11 more	GConflicting classifications of pathogenicity
Select item 464984	NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)	FLNA (L1224F)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +9 more	GUncertain significance
Select item 464980	NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)	FLNA (N931I)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 440936	NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)	FLNA (G524E)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +4 more	GUncertain significance
Select item 435209	NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)	FLNA (M154T)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 435203	NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)	FLNA (R2234Q +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type I +11 more	GConflicting classifications of pathogenicity
Select item 432226	NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)	FLNA (V752I)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked +11 more	GUncertain significance
Select item 413398	NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +12 more	GBenign/Likely benign
Select item 392335	NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	FLNA, LOC107988032 (C2535Y +1 more)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 377886	NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +12 more	GBenign/Likely benign
Select item 213502	NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)	FLNA (V804I)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +10 more	GConflicting classifications of pathogenicity
Select item 213491	NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)	FLNA (R190Q)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 213485	NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)	FLNA (P2415S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +13 more	GBenign/Likely benign
Select item 213481	NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)	FLNA (N2109S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +12 more	GLikely benign
Select item 213471	NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)	FLNA (A1141T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +12 more	GBenign/Likely benign
Select item 213445	NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +12 more	GBenign/Likely benign
Select item 213443	NM_001110556.2(FLNA):c.3207+14G>A	FLNA	Single nucleotide variant (intron variant)	FG syndrome 2 +10 more	GBenign/Likely benign
Select item 213441	NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)	FLNA (T839M)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +11 more	GBenign/Likely benign
Select item 211024	NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)	FLNA (K2232R +1 more)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 211017	NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)	FLNA (T1506I)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +11 more	GConflicting classifications of pathogenicity
Select item 209154	NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	FLNA (G1576R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 198133	NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)	FLNA (R301W)	Single nucleotide variant (missense variant)	FG syndrome 2 +12 more	GConflicting classifications of pathogenicity
Select item 167076	NM_001110556.2(FLNA):c.7553-18A>G	FLNA	Single nucleotide variant (intron variant)	not provided +11 more	GBenign
Select item 167075	NM_001110556.2(FLNA):c.7756+8A>G	FLNA, LOC107988032	Single nucleotide variant (intron variant)	not specified +12 more	GBenign/Likely benign
Select item 141534	NM_000051.4(ATM):c.3894dup (p.Ala1299fs)	ATM (A1299fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 129072	NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +12 more	GBenign/Likely benign
Select item 129065	NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +13 more	GBenign/Likely benign
Select item 93777	NM_001110556.2(FLNA):c.882A>G (p.Thr294=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +12 more	GBenign
Select item 93767	NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)	FLNA (S1991L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +13 more	GBenign/Likely benign
Select item 93756	NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)	FLNA (C1108Y)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 93753	NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)	FLNA (S1012L)	Single nucleotide variant (missense variant)	not provided +13 more	GBenign/Likely benign
Select item 93748	NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)	FLNA (T429M)	Single nucleotide variant (missense variant)	not specified +12 more	GBenign/Likely benign
Select item 11779	NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG	FLNA	Indel (splice acceptor variant +1 more)	Cardiac valvular dysplasia, X-linked	GPathogenic
Select item 11778	NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp)	FLNA (V711D)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GPathogenic
Select item 11777	NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)	FLNA (G288R)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant	GLikely pathogenic
Select item 11776	NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)	FLNA (P637Q)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked	GPathogenic
Select item 11770	NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)	FLNA	Single nucleotide variant (synonymous variant)	FLNA-related periventricular nodular heterotopia +5 more	GConflicting classifications of pathogenicity
Select item 11761	NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)	FLNA (S1186L)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic

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Items: 89