"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYLK-AS1" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520019	NM_053025.4(MYLK):c.5673C>T (p.Ala1891=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	MYLK-related disorder +2 more	GLikely benign
Select item 793767	NM_053025.4(MYLK):c.5501-7G>C	MYLK, MYLK-AS1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 342867	NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile)	MYLK, MYLK-AS1 (T1814I +6 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1539017	NM_053025.4(MYLK):c.5430T>C (p.Tyr1810=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	MYLK-related disorder +1 more	GLikely benign
Select item 415755	NM_053025.4(MYLK):c.5166T>C (p.Asp1722=)	MYLK, MYLK-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 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 262290	NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 1210629	NM_053025.4(MYLK):c.4983C>T (p.Phe1661=)	LOC126806791, MYLK +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +4 more	GBenign/Likely benign