C1848213[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208878	NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)	FLNA, LOC107988032 (E2635K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 512188	NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)	LOC107988032, FLNA (A2541S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 392335	NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	FLNA, LOC107988032 (C2535Y +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +12 more	GConflicting classifications of pathogenicity
Select item 698352	NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile)	FLNA, LOC107988032 (V2522I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 465020	NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)	FLNA (T2480N +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +9 more	GConflicting classifications of pathogenicity
Select item 465017	NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr)	FLNA (I2402T +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2924198	NM_001110556.2(FLNA):c.7088C>T (p.Ala2363Val)	FLNA (A2355V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 447344	NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)	FLNA (S2356R +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 197428	NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)	FLNA (G2291S +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +5 more	GConflicting classifications of pathogenicity
Select item 533584	NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)	FLNA (A2235G +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +7 more	GConflicting classifications of pathogenicity
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 288135	NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)	FLNA (E2051K +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 492841	NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)	FLNA (R2041H +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GUncertain significance
Select item 465005	NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)	FLNA (I1963F +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 1163702	NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met)	FLNA (V1914M +1 more)	Single nucleotide variant (missense variant)	FG syndrome 2 +6 more	GConflicting classifications of pathogenicity
Select item 405442	NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser)	FLNA (G1896S +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 405456	NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)	FLNA (N1864S +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 213477	NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)	FLNA (N1773S +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2037625	NM_001110556.2(FLNA):c.5216C>T (p.Thr1739Met)	FLNA (T1739M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 1357160	NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)	FLNA (A1478S)	Single nucleotide variant (missense variant)	FLNA-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 195948	NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)	FLNA (D1474N)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2683601	NM_001110556.2(FLNA):c.4255G>A (p.Ala1419Thr)	FLNA (A1419T)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +4 more	GUncertain significance
Select item 464988	NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)	FLNA (T1369I)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 405455	NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)	FLNA (R1359C)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 190193	NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)	FLNA (D1354N)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +5 more	GConflicting classifications of pathogenicity
Select item 264534	NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)	FLNA (D1332G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 93756	NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)	FLNA (C1108Y)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +11 more	GConflicting classifications of pathogenicity
Select item 519885	NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)	FLNA (R1036C)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 1166036	NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala)	FLNA (V985A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 213503	NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)	FLNA (K975N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 2064061	NM_001110556.2(FLNA):c.2588G>A (p.Arg863Gln)	FLNA (R863Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 519868	NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His)	FLNA (Y775H)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 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 1693798	NM_001110556.2(FLNA):c.2186G>A (p.Gly729Asp)	FLNA (G729D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 654219	NM_001110556.2(FLNA):c.1991G>A (p.Arg664His)	FLNA (R664H)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GUncertain significance
Select item 1427426	NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)	FLNA (G562R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 213521	NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)	FLNA (E541K)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 435208	NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)	FLNA (R527H)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 235716	NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)	FLNA (P480L)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2683603	NM_001110556.2(FLNA):c.1208A>C (p.Tyr403Ser)	FLNA (Y403S)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +4 more	GUncertain significance
Select item 1163782	NM_001110556.2(FLNA):c.1114G>T (p.Val372Leu)	FLNA (V372L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 658173	NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr)	FLNA (A366T)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +4 more	GUncertain significance
Select item 282366	NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)	FLNA (V344I)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +5 more	GConflicting classifications of pathogenicity
Select item 198133	NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)	FLNA (R301W)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 1006270	NM_001110556.2(FLNA):c.720+5A>T	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +4 more	GUncertain significance
Select item 391884	NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)	FLNA (D22G)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity

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Items: 47