ClinVar for MedGen (Select 462551) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1090017	NM_001613.4(ACTA2):c.648G>A (p.Glu216=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +4 more	GLikely benign
Select item 986791	NM_001613.4(ACTA2):c.536G>T (p.Arg179Leu)	ACTA2 (R136L +1 more)	Single nucleotide variant (missense variant)	Multisystemic smooth muscle dysfunction syndrome	GPathogenic
Select item 919137	NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)	ACTA2, ACTA2-AS1 (A230G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +4 more	GUncertain significance
Select item 911956	NM_001613.4(ACTA2):c.535C>A (p.Arg179Ser)	ACTA2 (R142S +1 more)	Single nucleotide variant (missense variant)	Multisystemic smooth muscle dysfunction syndrome	GPathogenic
Select item 879816	NM_001613.4(ACTA2):c.24T>G (p.Thr8=)	ACTA2	Single nucleotide variant (synonymous variant)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
Select item 879456	NM_001613.4(ACTA2):c.258+5G>T	ACTA2	Single nucleotide variant (intron variant)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
Select item 877991	NM_001613.4(ACTA2):c.456C>T (p.Gly152=)	ACTA2	Single nucleotide variant (synonymous variant)	Multisystemic smooth muscle dysfunction syndrome +2 more	GConflicting classifications of pathogenicity
Select item 877990	NM_001613.4(ACTA2):c.645G>A (p.Lys215=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Multisystemic smooth muscle dysfunction syndrome +2 more	GConflicting classifications of pathogenicity
Select item 877878	NM_001141945.3(ACTA2):c.-23-3850C>G	ACTA2	Single nucleotide variant (intron variant)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
Select item 877877	NM_001141945.3(ACTA2):c.-23-3831T>C	ACTA2	Single nucleotide variant (intron variant)	Multisystemic smooth muscle dysfunction syndrome +1 more	GConflicting classifications of pathogenicity
Select item 877831	NM_001613.4(ACTA2):c.*104C>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
Select item 838562	NM_001613.4(ACTA2):c.616+6G>A	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 636991	NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)	ACTA2 (I36T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 580143	NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu)	ACTA2 (D26E)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +3 more	GUncertain significance
Select item 469083	NM_001613.4(ACTA2):c.129+4A>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +2 more	GUncertain significance
Select item 423832	NM_001613.4(ACTA2):c.129+5G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +4 more	GUncertain significance
Select item 389807	NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)	ACTA2 (R185* +2 more)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 6 +4 more	GUncertain significance
Select item 386329	NM_001613.4(ACTA2):c.174C>T (p.Asp58=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 384419	NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)	ACTA2 (A99G +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GUncertain significance
Select item 368929	NR_125373.1(ACTA2-AS1):n.690C>T	ACTA2-AS1, ACTA2	Single nucleotide variant (non-coding transcript variant)	Moyamoya disease +2 more	GLikely benign
Select item 301521	NM_000043.6(FAS):c.-10C>A	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +2 more)	Moyamoya disease +3 more	GUncertain significance
Select item 301520	NM_000043.6(FAS):c.-34A>G	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 301519	NM_001141945.3(ACTA2):c.-24+157C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 301518	NM_001141945.3(ACTA2):c.-24+236C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1 +3 more	GUncertain significance
Select item 301517	NM_001141945.3(ACTA2):c.-24+357C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Moyamoya disease +3 more	GLikely benign
Select item 301516	NM_001141945.3(ACTA2):c.-24+399C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Moyamoya disease +3 more	GUncertain significance
Select item 301515	NM_001141945.3(ACTA2):c.-24+409G>A	ACTA2, FAS	Single nucleotide variant (intron variant)	Moyamoya disease +3 more	GLikely benign
Select item 301514	NM_001141945.3(ACTA2):c.-24+414_-24+415del	ACTA2, FAS	Deletion (intron variant)	Moyamoya disease +3 more	GLikely benign
Select item 301513	NM_001141945.3(ACTA2):c.-23-3869A>G	ACTA2	Single nucleotide variant (intron variant)	Moyamoya disease +2 more	GUncertain significance
Select item 301512	NM_001613.4(ACTA2):c.-56C>T	ACTA2	Single nucleotide variant (5 prime UTR variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
Select item 301511	NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln)	ACTA2 (E5Q)	Single nucleotide variant (missense variant)	Multisystemic smooth muscle dysfunction syndrome +2 more	GUncertain significance
Select item 301510	NM_001613.4(ACTA2):c.369+7A>G	ACTA2	Single nucleotide variant (intron variant)	Moyamoya disease +3 more	GConflicting classifications of pathogenicity
Select item 301509	NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	ACTA2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 301508	NM_001613.4(ACTA2):c.417G>A (p.Gln139=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +5 more	GBenign/Likely benign
Select item 301507	NM_001613.4(ACTA2):c.808+14G>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +2 more	GConflicting classifications of pathogenicity
Select item 301506	NM_001613.4(ACTA2):c.*28A>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 301505	NM_001613.4(ACTA2):c.*43A>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +1 more	GUncertain significance
Select item 301504	NM_001613.4(ACTA2):c.*105G>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +1 more	GConflicting classifications of pathogenicity
Select item 301503	NM_001613.4(ACTA2):c.*122T>C	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 265026	NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)	ACTA2 (R179C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 264091	NM_001613.4(ACTA2):c.420G>A (p.Ala140=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 263863	NM_001613.4(ACTA2):c.936C>T (p.Ala312=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 263430	NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)	ACTA2-AS1, ACTA2 (T326N +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 263402	NM_001613.4(ACTA2):c.323C>T (p.Thr108Met)	ACTA2 (T108M +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +3 more	GUncertain significance
Select item 199682	NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs)	ACTA2, ACTA2-AS1 (S340fs)	Microsatellite (frameshift variant +1 more)	Multisystemic smooth muscle dysfunction syndrome +2 more	GUncertain significance
Select item 199670	NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)	ACTA2 (R118Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +4 more	GPathogenic/Likely pathogenic
Select item 136278	NM_001613.4(ACTA2):c.201G>C (p.Leu67=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 29598	NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	ACTA2 (R179H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GPathogenic

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Items: 48