"Blueprint Genetics"[submitter] AND "MYLK"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222741	NM_053025.4(MYLK):c.5447G>A (p.Arg1816His)	MYLK, MYLK-AS1 (R1816H +6 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 180446	NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val)	MYLK (A1615V +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GConflicting classifications of pathogenicity
Select item 180445	NM_053025.4(MYLK):c.4805A>G (p.Lys1602Arg)	MYLK (K1533R +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 222740	NM_053025.4(MYLK):c.4790C>T (p.Thr1597Met)	MYLK (T1597M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 155820	NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp)	MYLK (G1360D +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 180444	NM_053025.4(MYLK):c.3982G>A (p.Val1328Met)	MYLK (V1328M +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GConflicting classifications of pathogenicity
Select item 155819	NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser)	MYLK (G866S +2 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more	GUncertain significance