ClinVar for MedGen (Select 412536) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500033	NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)	FLNA	Single nucleotide variant (synonymous variant)	Cardiac valvular dysplasia, X-linked +9 more	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 1500525	NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)	FLNA (T1542I)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +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)	Terminal osseous dysplasia-pigmentary defects syndrome +9 more	GUncertain significance
Select item 1147769	NM_001110556.2(FLNA):c.2316C>A (p.Val772=)	FLNA	Single nucleotide variant (synonymous variant)	Terminal osseous dysplasia-pigmentary defects syndrome +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)	Terminal osseous dysplasia-pigmentary defects syndrome +11 more	GUncertain significance
Select item 1011953	NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)	FLNA (E798K)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +10 more	GConflicting classifications of pathogenicity
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 699931	NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type I +10 more	GLikely benign
Select item 661868	NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)	FLNA (T608M)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +10 more	GUncertain significance
Select item 625951	NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)	FLNA (K165R)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +10 more	GUncertain significance
Select item 625950	NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)	FLNA (T402A)	Single nucleotide variant (missense variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +8 more	GUncertain significance
Select item 625949	NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)	FLNA	Single nucleotide variant (synonymous variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +12 more	GLikely benign
Select item 625948	NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)	FLNA (F1438L)	Single nucleotide variant (missense variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +8 more	GUncertain significance
Select item 588806	NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)	FLNA (M424V)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +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)	Heterotopia, periventricular, X-linked dominant +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)	Heterotopia, periventricular, X-linked dominant +10 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)	FG syndrome 2 +10 more	GLikely benign
Select item 498636	NM_001110556.2(FLNA):c.4474+3G>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +10 more	GUncertain significance
Select item 488069	NM_001110556.2(FLNA):c.2280+389T>A	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +1 more	GPathogenic
Select item 488065	NM_001110556.2(FLNA):c.18_19del (p.Arg7fs)	FLNA (R7fs)	Microsatellite (frameshift variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +1 more	GPathogenic
Select item 465015	NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)	FLNA (R2280H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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)	Melnick-Needles syndrome +9 more	GUncertain significance
Select item 464980	NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)	FLNA (N931I)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +8 more	GUncertain significance
Select item 435203	NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)	FLNA (R2234Q +1 more)	Single nucleotide variant (missense variant)	FG syndrome 2 +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)	Heterotopia, periventricular, X-linked dominant +11 more	GUncertain significance
Select item 413398	NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)	FLNA	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +11 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)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +12 more	GConflicting classifications of pathogenicity
Select item 377886	NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)	FLNA	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +13 more	GBenign/Likely benign
Select item 213521	NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)	FLNA (E541K)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +7 more	GConflicting classifications of pathogenicity
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)	Oto-palato-digital syndrome, type II +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 +14 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)	Oto-palato-digital syndrome, type II +13 more	GLikely benign
Select item 213471	NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)	FLNA (A1141T)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +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 +13 more	GBenign/Likely benign
Select item 213443	NM_001110556.2(FLNA):c.3207+14G>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +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 +12 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)	Frontometaphyseal dysplasia +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 198133	NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)	FLNA (R301W)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +12 more	GConflicting classifications of pathogenicity
Select item 167076	NM_001110556.2(FLNA):c.7553-18A>G	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +11 more	GBenign
Select item 167075	NM_001110556.2(FLNA):c.7756+8A>G	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Connective tissue disorder +12 more	GBenign/Likely benign
Select item 129072	NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +13 more	GBenign/Likely benign
Select item 129065	NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +14 more	GBenign/Likely benign
Select item 93777	NM_001110556.2(FLNA):c.882A>G (p.Thr294=)	FLNA	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +13 more	GBenign
Select item 93767	NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)	FLNA (S1991L)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +14 more	GBenign/Likely benign
Select item 93756	NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)	FLNA (C1108Y)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia, X-linked +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)	History of neurodevelopmental disorder +14 more	GBenign/Likely benign
Select item 93748	NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)	FLNA (T429M)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +14 more	GBenign/Likely benign
Select item 11771	NM_001110556.2(FLNA):c.67_68del (p.Thr23fs)	FLNA (T23fs)	Microsatellite (frameshift variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	GPathogenic

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Items: 53