"Blueprint Genetics"[submitter] AND "NDE1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155817	NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)	MYH11, NDE1 (T1786M +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 636781	NM_002474.3(MYH11):c.4835G>A (p.Arg1612His)	MYH11, NDE1 (R1612H +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 180419	NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)	MYH11, NDE1 (T1565M +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 424502	NM_002474.3(MYH11):c.4632G>C (p.Met1544Ile)	MYH11, NDE1 (M1544I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 180418	NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)	MYH11, NDE1 (R1542Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 372423	NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp)	MYH11, NDE1 (R1535W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 201111	NM_002474.3(MYH11):c.4578+2dup	MYH11, NDE1	Duplication (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar