"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625981	NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg)	MYLK, MYLK-AS1 (T1711R +4 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 520012	NM_053025.4(MYLK):c.4744G>A (p.Val1582Met)	MYLK (V1582M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2500060	NM_053025.4(MYLK):c.4457C>T (p.Thr1486Ile)	MYLK (T1310I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 487468	NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met)	MYLK (T1308M +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 342880	NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)	MYLK (A1300T +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 571663	NM_053025.4(MYLK):c.3832-8G>C	MYLK	Single nucleotide variant (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 568511	NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)	MYLK (V1213L +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 241756	NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys)	MYLK (R926C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 625982	NM_053025.4(MYLK):c.2627G>A (p.Arg876His)	MYLK (R876H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GConflicting classifications of pathogenicity
Select item 519975	NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)	MYLK (D717N +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +8 more	GUncertain significance
Select item 409697	NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu)	MYLK (P575L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
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