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

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262291	NM_053025.4(MYLK):c.5114+8G>A	LOC126806791, MYLK +1 more	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
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)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 699151	NM_053025.4(MYLK):c.5067C>T (p.Ser1689=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +3 more	GLikely benign
Select item 226771	NM_053025.4(MYLK):c.4842T>C (p.Asn1614=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +2 more	GBenign
Select item 196142	NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1297643	NM_053025.4(MYLK):c.4625C>T (p.Ser1542Leu)	MYLK (S1366L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 227625	NM_053025.4(MYLK):c.4620-6C>T	MYLK	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 262284	NM_053025.4(MYLK):c.4620-12G>A	MYLK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 262285	NM_053025.4(MYLK):c.4620-18G>A	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +2 more	GBenign/Likely benign
Select item 226770	NM_053025.4(MYLK):c.4317T>C (p.Asp1439=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign
Select item 226768	NM_053025.4(MYLK):c.4289-10dup	MYLK	Duplication (intron variant)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign/Likely benign
Select item 415754	NM_053025.4(MYLK):c.4289-9C>G	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +2 more	GBenign/Likely benign
Select item 226767	NM_053025.4(MYLK):c.4194C>T (p.His1398=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign
Select item 227624	NM_053025.4(MYLK):c.3832-6C>T	MYLK	Single nucleotide variant (intron variant)	not provided +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 +1 more	GBenign
Select item 568511	NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)	MYLK (V1213L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +4 more	GUncertain significance
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 194902	NM_053025.4(MYLK):c.3027G>A (p.Glu1009=)	MYLK	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 220800	NM_053025.4(MYLK):c.2919G>A (p.Pro973=)	MYLK	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 226759	NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)	MYLK (D914E +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 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)	Familial thoracic aortic aneurysm and aortic dissection +2 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)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 264351	NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)	MYLK (P825L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 342890	NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp)	MYLK (R821W +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 342891	NM_053025.4(MYLK):c.2253C>T (p.Thr751=)	MYLK	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 393068	NM_053025.4(MYLK):c.2183G>A (p.Arg728His)	MYLK (R728H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 241754	NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)	MYLK (A701T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 515118	NM_053025.4(MYLK):c.2070G>A (p.Thr690=)	MYLK	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 241753	NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)	MYLK (G675R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign/Likely benign
Select item 471704	NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr)	MYLK (A596T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1284994	NM_053025.4(MYLK):c.1651+23C>G	MYLK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 226756	NM_053025.4(MYLK):c.1651+6T>A	MYLK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 386365	NM_053025.4(MYLK):c.1516+16C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign/Likely benign
Select item 389541	NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)	MYLK (R506G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 226754	NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)	MYLK (P443S +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign/Likely benign
Select item 264383	NM_053025.4(MYLK):c.1314C>T (p.Ser438=)	MYLK	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 511230	NM_053025.4(MYLK):c.1310-20T>C	MYLK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1285054	NM_053025.4(MYLK):c.1309+26G>A	MYLK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 264282	NM_053025.4(MYLK):c.1133G>A (p.Arg378His)	MYLK (R378H +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GConflicting classifications of pathogenicity
Select item 193752	NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)	MYLK (P336L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 226753	NM_053025.4(MYLK):c.1005C>T (p.Thr335=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign
Select item 262298	NM_053025.4(MYLK):c.999G>A (p.Pro333=)	MYLK	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 7 +3 more	GConflicting classifications of pathogenicity
Select item 226774	NM_053025.4(MYLK):c.782T>C (p.Val261Ala)	MYLK (V261A +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 389625	NM_053025.4(MYLK):c.755-12C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign/Likely benign
Select item 1175099	NM_053025.4(MYLK):c.493del (p.Thr165fs)	MYLK (T165fs)	Deletion (frameshift variant +1 more)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 198606	NM_053025.4(MYLK):c.439C>T (p.Pro147Ser)	MYLK (P147S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +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 +2 more	GBenign
Select item 263911	NM_053025.4(MYLK):c.399G>T (p.Gln133His)	MYLK (Q133H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 262280	NM_053025.4(MYLK):c.373+18C>T	MYLK	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +3 more	GBenign/Likely benign
Select item 539085	NM_053025.4(MYLK):c.304G>C (p.Gly102Arg)	MYLK (G102R)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 262276	NM_053025.4(MYLK):c.207C>T (p.Asn69=)	MYLK	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
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

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Items: 53