"Laboratory of Diagnostic Genome Analysis, Leiden University Medical C - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138430	NM_017668.3(NDE1):c.572C>T (p.Thr191Ile)	NDE1 (T191I)	Single nucleotide variant (missense variant)	NDE1-related condition +3 more	GBenign/Likely benign
Select item 201044	NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)	MYH11, NDE1 (T1934S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 201086	NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	MYH11, NDE1 (E1833D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 138350	NM_017668.3(NDE1):c.948-6839G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 375862	NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)	MYH11, NDE1 (A1733T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 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)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 263686	NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)	MYH11, NDE1 (I1304L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity