"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226772	NM_053025.4(MYLK):c.5079G>A (p.Lys1693=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +4 more	GBenign
Select item 226771	NM_053025.4(MYLK):c.4842T>C (p.Asn1614=)	MYLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 227625	NM_053025.4(MYLK):c.4620-6C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
Select item 226770	NM_053025.4(MYLK):c.4317T>C (p.Asp1439=)	MYLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226768	NM_053025.4(MYLK):c.4289-10dup	MYLK	Duplication (intron variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 226769	NM_053025.4(MYLK):c.4289-4C>G	MYLK	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 226767	NM_053025.4(MYLK):c.4194C>T (p.His1398=)	MYLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 227624	NM_053025.4(MYLK):c.3832-6C>T	MYLK	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 226765	NM_053025.4(MYLK):c.3652+11G>A	MYLK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 403212	NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)	MYLK (V1213M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 226764	NM_053025.4(MYLK):c.3558C>T (p.Thr1186=)	MYLK	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 226763	NM_053025.4(MYLK):c.3525C>T (p.Asp1175=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
Select item 226762	NM_053025.4(MYLK):c.3448+15G>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
Select item 194903	NM_053025.4(MYLK):c.3402C>T (p.Asn1134=)	MYLK	Single nucleotide variant (synonymous variant)	Megacystis, microcolon, hypoperistalsis syndrome +4 more	GBenign
Select item 226761	NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala)	MYLK (T1085A +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 194904	NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)	MYLK (E1066del +2 more)	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 226760	NM_053025.4(MYLK):c.3075C>T (p.Pro1025=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign
Select item 194902	NM_053025.4(MYLK):c.3027G>A (p.Glu1009=)	MYLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 403213	NM_053025.4(MYLK):c.2938dup (p.Asp980fs)	MYLK (D804fs +2 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 226759	NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)	MYLK (D914E +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 226758	NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro)	MYLK (L861P +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 226038	NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys)	MYLK (R776C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +4 more	GBenign/Likely benign
Select item 228937	NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)	MYLK (Q664R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
Select item 226757	NM_053025.4(MYLK):c.1804+8C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign
Select item 226756	NM_053025.4(MYLK):c.1651+6T>A	MYLK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 226755	NM_053025.4(MYLK):c.1486C>G (p.Leu496Val)	MYLK (L496V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 226754	NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)	MYLK (P443S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 226753	NM_053025.4(MYLK):c.1005C>T (p.Thr335=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 226774	NM_053025.4(MYLK):c.782T>C (p.Val261Ala)	MYLK (V261A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 389625	NM_053025.4(MYLK):c.755-12C>T	MYLK	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 810714	NM_053025.4(MYLK):c.535C>T (p.Arg179Ter)	MYLK (R179* +1 more)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
Select item 198606	NM_053025.4(MYLK):c.439C>T (p.Pro147Ser)	MYLK (P147S)	Single nucleotide variant (5 prime UTR variant +1 more)	Megacystis, microcolon, hypoperistalsis syndrome +4 more	GBenign
Select item 226766	NM_053025.4(MYLK):c.411C>G (p.Ser137=)	MYLK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 241759	NM_053025.4(MYLK):c.383C>T (p.Ala128Val)	MYLK (A128V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GBenign
Select item 226773	NM_053025.4(MYLK):c.62C>A (p.Pro21His)	MYLK (P21H)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign

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: 35