C2673186[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226038	NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys)	MYLK (R776C +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 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 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 263863	NM_001613.4(ACTA2):c.936C>T (p.Ala312=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 877990	NM_001613.4(ACTA2):c.645G>A (p.Lys215=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 44219	NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	ACTA2, ACTA2-AS1 (R212Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6 +5 more	GPathogenic/Likely pathogenic
Select item 877991	NM_001613.4(ACTA2):c.456C>T (p.Gly152=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 264091	NM_001613.4(ACTA2):c.420G>A (p.Ala140=)	ACTA2	Single nucleotide variant (synonymous variant)	ACTA2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 301508	NM_001613.4(ACTA2):c.417G>A (p.Gln139=)	ACTA2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 301509	NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	ACTA2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
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 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 136278	NM_001613.4(ACTA2):c.201G>C (p.Leu67=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6 +5 more	GConflicting classifications of pathogenicity
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 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 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 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 877877	NM_001141945.3(ACTA2):c.-23-3831T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GConflicting classifications of pathogenicity
Select item 877878	NM_001141945.3(ACTA2):c.-23-3850C>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +1 more	GUncertain significance
Select item 201044	NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)	MYH11, NDE1 (T1934S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 36619	NM_002474.3(MYH11):c.3652-6C>T	MYH11	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 338594	NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys)	SLC2A10 (M307K)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +3 more	GUncertain significance

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: 24