"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYLK-AS1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342825	NM_053025.4(MYLK):c.*1653G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 342834	NM_053025.4(MYLK):c.*1191T>C	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 342841	NM_053025.4(MYLK):c.*945G>A	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +1 more	GLikely benign
Select item 902304	NM_053025.4(MYLK):c.*334C>T	MYLK, MYLK-AS1	Single nucleotide variant (3 prime UTR variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more	GUncertain significance
Select item 342860	NM_053025.4(MYLK):c.*165del	MYLK, MYLK-AS1	Deletion (3 prime UTR variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 862269	NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile)	MYLK, MYLK-AS1 (T1716I +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +1 more	GUncertain significance
Select item 937579	NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn)	MYLK, MYLK-AS1 (D1641N +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
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 660173	NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys)	MYLK-AS1, MYLK (R1640C +6 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance
Select item 409688	NM_053025.4(MYLK):c.5374G>A (p.Val1792Met)	MYLK, MYLK-AS1 (V1792M +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1549949	NM_053025.4(MYLK):c.5369-20TCT[2]	MYLK, MYLK-AS1	Microsatellite (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +1 more	GLikely benign
Select item 1320709	NM_053025.4(MYLK):c.5092A>C (p.Asn1698His)	LOC126806791, MYLK +1 more (N1522H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
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)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +4 more	GBenign
Select item 840175	NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn)	LOC126806791, MYLK +1 more (D1613N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +2 more	GUncertain significance
Select item 1368072	NM_053025.4(MYLK):c.5015A>G (p.Asn1672Ser)	LOC126806791, MYLK +1 more (N1603S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +3 more	GUncertain significance
Select item 648936	NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly)	LOC126806791, MYLK +1 more (D1666G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 7 +2 more	GUncertain significance