C1851504[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138354	NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +7 more	GBenign/Likely benign
Select item 138353	NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +7 more	GBenign/Likely benign
Select item 670998	NM_002474.3(MYH11):c.5083-46C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more	GBenign
Select item 138342	NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +8 more	GBenign
Select item 318115	NM_002474.3(MYH11):c.4117-44C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign
Select item 138334	NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)	MYH11, NDE1 (A1241T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign
Select item 670997	NM_002474.3(MYH11):c.2520+46C>G	MYH11	Single nucleotide variant (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more	GBenign
Select item 138330	NM_002474.3(MYH11):c.2472C>T (p.Ala824=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 670993	NM_002474.3(MYH11):c.2181-30C>T	MYH11	Single nucleotide variant (intron variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more	GBenign
Select item 138328	NM_002474.3(MYH11):c.2061C>T (p.Ser687=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 138327	NM_002474.3(MYH11):c.1743T>C (p.Ala581=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 138371	NM_002474.3(MYH11):c.1249-11G>C	MYH11	Single nucleotide variant (intron variant)	not provided +5 more	GBenign