"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201042	NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)	MYH11, NDE1 (P1933R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 201041	NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)	MYH11, NDE1 (P1933Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 927367	NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 138359	NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
Select item 318092	NM_002474.3(MYH11):c.5614-7G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 138357	NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 197068	NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 413417	NM_002474.3(MYH11):c.5504+7G>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 201086	NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	MYH11, NDE1 (E1833D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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)	Aortic aneurysm, familial thoracic 4 +7 more	GBenign/Likely benign
Select item 138351	NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 36625	NM_002474.3(MYH11):c.5172-14C>T	NDE1, MYH11	Single nucleotide variant (intron variant)	Lissencephaly 4 +6 more	GBenign/Likely benign
Select item 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	MYH11, NDE1 (K1628Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GUncertain significance
Select item 386684	NM_002474.3(MYH11):c.4680C>T (p.Asp1560=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 378206	NM_002474.3(MYH11):c.4578+19T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +4 more	GBenign/Likely benign
Select item 138346	NM_002474.3(MYH11):c.4578+3A>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 138345	NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)	MYH11, NDE1 (M1515V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GConflicting classifications of pathogenicity
Select item 201076	NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)	MYH11, NDE1 (A1468V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 522352	NM_002474.3(MYH11):c.4365+10G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 534148	NM_002474.3(MYH11):c.4365+9C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 138342	NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +8 more	GBenign
Select item 263393	NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 221033	NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 138341	NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign/Likely benign
Select item 201034	NM_002474.3(MYH11):c.4116+11del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 201068	NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)	MYH11, NDE1 (V1310M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 138337	NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)	MYH11, NDE1 (V1296A +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +6 more	GBenign/Likely benign

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Items: 28