"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	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)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 93775	NM_001110556.2(FLNA):c.7756+11=	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +4 more	GBenign
Select item 167075	NM_001110556.2(FLNA):c.7756+8A>G	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +12 more	GBenign/Likely benign
Select item 516075	NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +5 more	GBenign/Likely benign
Select item 197542	NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 167076	NM_001110556.2(FLNA):c.7553-18A>G	FLNA	Single nucleotide variant (intron variant)	not provided +11 more	GBenign
Select item 213510	NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)	FLNA (R2476C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1297659	NM_001110556.2(FLNA):c.7436G>T (p.Cys2479Phe)	FLNA (C2471F +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 213455	NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=)	FLNA	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 213485	NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)	FLNA (P2415S +1 more)	Single nucleotide variant (missense variant)	not specified +14 more	GBenign/Likely benign
Select item 129076	NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)	FLNA	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 197499	NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)	FLNA (G2408S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 264083	NM_001110556.2(FLNA):c.7041C>G (p.Val2347=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 93772	NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)	FLNA	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 93770	NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 465013	NM_001110556.2(FLNA):c.6503-9A>G	FLNA	Single nucleotide variant (intron variant)	not provided +4 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)	not specified +12 more	GLikely benign
Select item 211021	NM_001110556.2(FLNA):c.6023-10C>G	FLNA	Single nucleotide variant (intron variant)	Frontometaphyseal dysplasia +5 more	GBenign/Likely benign
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 1210072	NM_001110556.2(FLNA):c.5934G>A (p.Thr1978=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 93766	NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 465001	NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GBenign/Likely benign
Select item 129063	NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 213452	NM_001110556.2(FLNA):c.5313+4C>T	FLNA	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 93765	NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)	FLNA (A1764T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 213451	NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)	FLNA (P1743S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +7 more	GConflicting classifications of pathogenicity
Select item 1174801	NM_001110556.2(FLNA):c.5217+5G>C	FLNA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 385515	NM_001110556.2(FLNA):c.5193G>A (p.Val1731=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +6 more	GBenign/Likely benign
Select item 591017	NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)	FLNA (G1706S +1 more)	Single nucleotide variant (missense variant)	FLNA-related condition +7 more	GBenign/Likely benign
Select item 93763	NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 190196	NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 190194	NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)	FLNA (Q1484R)	Single nucleotide variant (missense variant)	Thrombocytopenia +8 more	GConflicting classifications of pathogenicity
Select item 533598	NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 129073	NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign
Select item 137386	NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)	FLNA	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 11774	NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)	FLNA (P1291L)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 213447	NM_001110556.2(FLNA):c.3805+16G>A	FLNA	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 264213	NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +6 more	GBenign/Likely benign
Select item 129072	NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)	FLNA	Single nucleotide variant (synonymous variant)	not specified +12 more	GBenign/Likely benign
Select item 519897	NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 377885	NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)	FLNA	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 129071	NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)	FLNA	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
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 93753	NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)	FLNA (S1012L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +13 more	GBenign/Likely benign
Select item 1174668	NM_001110556.2(FLNA):c.2826+9A>C	FLNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390773	NM_001110556.2(FLNA):c.2454C>T (p.Ala818=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GLikely benign
Select item 1297665	NM_001110556.2(FLNA):c.2361C>T (p.His787=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 194196	NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 390718	NM_001110556.2(FLNA):c.1828+3A>G	FLNA	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GBenign/Likely benign
Select item 129066	NM_001110556.2(FLNA):c.1691+7C>A	FLNA	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 129060	NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)	FLNA (R527C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 93750	NM_001110556.2(FLNA):c.1429+8C>T	FLNA	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 93748	NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)	FLNA (T429M)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign
Select item 385096	NM_001110556.2(FLNA):c.1229-8C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +5 more	GLikely benign
Select item 213460	NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 129065	NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +13 more	GBenign/Likely benign
Select item 213459	NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 198468	NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 11756	NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)	FLNA (E254K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 681383	NM_001110556.2(FLNA):c.696G>A (p.Ala232=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 257473	NM_001110556.2(FLNA):c.543G>A (p.Pro181=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 93758	NM_001110556.2(FLNA):c.374-19G>A	FLNA	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +4 more	GBenign
Select item 93751	NM_001110556.2(FLNA):c.237G>C (p.Ala79=)	FLNA	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63