"AiLife Diagnostics, AiLife Diagnostics"[submitter] AND "NDE1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1677866	NM_002474.3(MYH11):c.5875dup (p.Asp1959fs)	MYH11, NDE1 (D1959fs +1 more)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 629805	NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp)	MYH11, NDE1 (R1905W +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 1677443	NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro)	MYH11, NDE1 (R1792P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 921752	NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln)	MYH11, NDE1 (E1798Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1678076	NM_002474.3(MYH11):c.5368C>T (p.Leu1790Phe)	MYH11, NDE1 (L1790F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 405481	NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu)	MYH11, NDE1 (K1645E +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 1057827	NM_002474.3(MYH11):c.4646A>T (p.Glu1549Val)	MYH11, NDE1 (E1549V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 1678135	NM_002474.3(MYH11):c.4366-1G>A	MYH11, NDE1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1677842	NM_002474.3(MYH11):c.4342A>G (p.Lys1448Glu)	MYH11, NDE1 (K1448E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1677820	NM_002474.3(MYH11):c.4120T>C (p.Ser1374Pro)	MYH11, NDE1 (S1374P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance