"Revvity Omics, Revvity"[submitter] AND "NDE1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287331	NM_017668.3(NDE1):c.302C>T (p.Ala101Val)	NDE1 (A101V)	Single nucleotide variant (missense variant)	Lissencephaly 4 +3 more	GUncertain significance
Select item 159020	NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)	NDE1 (S291F)	Single nucleotide variant (missense variant)	Lissencephaly 4 +2 more	GConflicting classifications of pathogenicity
Select item 918428	NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter)	MYH11, NDE1 (R1961* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 201088	NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)	MYH11, NDE1 (E1861K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2433865	NM_002474.3(MYH11):c.5346G>C (p.Lys1782Asn)	MYH11, NDE1 (K1782N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 924087	NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1])	MYH11, NDE1	Microsatellite (inframe_deletion +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 923544	NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser)	MYH11, NDE1 (A1705S +1 more)	Indel (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	NDE1, MYH11 (K1628Q +1 more)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +6 more	GUncertain significance
Select item 465739	NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)	MYH11, NDE1 (M1576T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 1938720	NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)	MYH11, NDE1 (V1523M +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 1172401	NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr)	MYH11, NDE1 (A1511T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2689544	NM_017668.3(NDE1):c.956C>G (p.Thr319Arg)	MYH11, NDE1 (T319R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433870	NM_002474.3(MYH11):c.4241_4242inv (p.Ala1414Glu)	MYH11, NDE1 (A1414E +1 more)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 2433867	NM_002474.3(MYH11):c.3931G>A (p.Ala1311Thr)	MYH11, NDE1 (A1311T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance