"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NDE1"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211577	NM_017668.3(NDE1):c.155C>T (p.Thr52Met)	NDE1 (T52M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 435935	NM_017668.3(NDE1):c.701G>A (p.Arg234His)	NDE1 (R234H)	Single nucleotide variant (missense variant)	not provided +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 514103	NM_002474.3(MYH11):c.5829A>G (p.Gly1943=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Visceral myopathy 2 +4 more	GLikely benign
Select item 1218188	NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu)	MYH11, NDE1	Insertion (3 prime UTR variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more	GUncertain significance
Select item 503630	NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter)	MYH11, NDE1 (R1930* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 920686	NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter)	MYH11, NDE1 (Q1945* +1 more)	Single nucleotide variant (nonsense +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 201092	NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)	MYH11, NDE1 (A1923T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 374963	NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)	MYH11, NDE1 (T1918M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 927693	NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln)	MYH11, NDE1 (R1905Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 519935	NM_002474.3(MYH11):c.5684G>A (p.Arg1895His)	MYH11, NDE1 (R1895H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1015991	NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys)	MYH11, NDE1 (N1876K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 927691	NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys)	MYH11, NDE1 (R1869C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 918235	NM_002474.3(MYH11):c.5496G>C (p.Gln1832His)	MYH11, NDE1 (Q1832H +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 618231	NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)	MYH11, NDE1 (S1814F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 201117	NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)	MYH11, NDE1 (V1808I +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
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 519962	NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser)	NDE1, MYH11 (A1780S +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 405472	NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)	MYH11, NDE1 (T1786K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 318096	NM_002474.3(MYH11):c.5330G>A (p.Arg1777His)	MYH11, NDE1 (R1784H +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +3 more	GUncertain significance
Select item 928175	NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile)	MYH11, NDE1 (T1770I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 1374641	NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys)	MYH11, NDE1 (R1760C +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 581863	NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln)	MYH11, NDE1 (R1744Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 405462	NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu)	MYH11, NDE1 (S1729L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 923603	NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys)	MYH11, NDE1 (E1716K +1 more)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more	GUncertain significance
Select item 465745	NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr)	MYH11, NDE1 (A1705T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 201081	NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu)	MYH11, NDE1 (R1665L +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 161318	NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys)	MYH11, NDE1 (R1655C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 561304	NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)	MYH11, NDE1 (D1634N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	MYH11, NDE1 (K1628Q +1 more)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +6 more	GUncertain significance
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 423952	NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys)	MYH11, NDE1 (R1612C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 318108	NM_002474.3(MYH11):c.4791+13G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 228870	NM_002474.3(MYH11):c.4791+5G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +5 more	GUncertain significance
Select item 318109	NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg)	MYH11, NDE1 (Q1597R +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +4 more	GUncertain significance
Select item 201115	NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu)	MYH11, NDE1 (Q1586E +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 519925	NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp)	MYH11, NDE1 (R1583W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 925198	NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys)	MYH11, NDE1 (E1577K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 201078	NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu)	MYH11, NDE1 (K1573E +1 more)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 2 +4 more	GUncertain significance
Select item 465739	NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)	NDE1, MYH11 (M1576T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1060205	NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys)	MYH11, NDE1 (E1543K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 664987	NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr)	MYH11, NDE1 (A1536T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
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 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 264056	NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)	MYH11, NDE1 (D1515N +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 920154	NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly)	MYH11, NDE1 (A1483G +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
Select item 424507	NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile)	MYH11, NDE1 (R1473I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 201076	NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)	MYH11, NDE1 (A1468V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 857118	NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser)	MYH11, NDE1 (F1460S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 424387	NM_002474.3(MYH11):c.4319G>A (p.Arg1440Gln)	MYH11, NDE1 (R1440Q +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 201074	NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn)	MYH11, NDE1 (D1435N +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 639271	NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu)	MYH11, NDE1 (S1376L +1 more)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 2 +4 more	GUncertain significance
Select item 1320883	NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe)	MYH11, NDE1 (I1366F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1219769	NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys)	MYH11, NDE1 (R1364C +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 201071	NM_002474.3(MYH11):c.4016G>A (p.Arg1339His)	MYH11, NDE1 (R1339H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 918397	NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys)	MYH11, NDE1 (E1305K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance

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Items: 57