"GeneDx"[submitter] AND "NDE1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145996	GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1	ABCC1, ABCC6 +56 more	Copy number loss	See cases	GPathogenic
Select item 318035	NM_001143979.2(NDE1):c.-165-12_-165-9del	NDE1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318036	NM_001143979.2(NDE1):c.-164C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4 +1 more	GBenign
Select item 318037	NM_001143979.2(NDE1):c.-152C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 138432	NM_001143979.2(NDE1):c.-94C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4 +2 more	GBenign
Select item 1227927	NM_017668.3(NDE1):c.-43-280A>G	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190857	NM_017668.3(NDE1):c.-43-64dup	NDE1	Duplication (intron variant)	not provided	GLikely benign
Select item 196316	NM_017668.3(NDE1):c.1A>G (p.Met1Val)	NDE1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1188649	NM_017668.3(NDE1):c.83+42dup	NDE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1283240	NM_017668.3(NDE1):c.83+42del	NDE1	Deletion (intron variant)	not provided	GBenign
Select item 670960	NM_017668.3(NDE1):c.83+188T>C	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198380	NM_017668.3(NDE1):c.83+210del	NDE1	Deletion (intron variant)	not provided	GLikely benign
Select item 1199540	NM_017668.3(NDE1):c.84-145G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305065	NM_017668.3(NDE1):c.101A>G (p.Glu34Gly)	NDE1 (E34G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 620567	NM_017668.3(NDE1):c.109C>T (p.Arg37Ter)	NDE1 (R37*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1314666	NM_017668.3(NDE1):c.110G>A (p.Arg37Gln)	NDE1 (R37Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290681	NM_017668.3(NDE1):c.215G>A (p.Arg72His)	NDE1 (R72H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296101	NM_017668.3(NDE1):c.237+103C>G	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667639	NM_017668.3(NDE1):c.237+137C>G	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295925	NM_017668.3(NDE1):c.237+191_237+192dup	NDE1	Duplication (intron variant)	not provided	GBenign
Select item 1271972	NM_017668.3(NDE1):c.237+192dup	NDE1	Duplication (intron variant)	not provided	GBenign
Select item 1295313	NM_017668.3(NDE1):c.237+193G>T	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177706	NM_017668.3(NDE1):c.237+195_237+196insGT	NDE1	Insertion (intron variant)	not provided	GBenign
Select item 1296239	NM_017668.3(NDE1):c.237+195T>G	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674157	NM_017668.3(NDE1):c.238-57T>C	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201905	NM_017668.3(NDE1):c.238-39G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372355	NM_017668.3(NDE1):c.263A>T (p.Glu88Val)	NDE1 (E88V)	Single nucleotide variant (missense variant)	not provided	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 288031	NM_017668.3(NDE1):c.386+9G>A	NDE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159013	NM_017668.3(NDE1):c.386+41C>G	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295327	NM_017668.3(NDE1):c.386+145G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667642	NM_017668.3(NDE1):c.387-178A>G	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670461	NM_017668.3(NDE1):c.387-140G>T	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209476	NM_017668.3(NDE1):c.387-60C>T	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214886	NM_017668.3(NDE1):c.387-40G>C	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680350	NM_017668.3(NDE1):c.387C>T (p.Arg129=)	NDE1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 283526	NM_017668.3(NDE1):c.486C>T (p.Leu162=)	NDE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1298273	NM_017668.3(NDE1):c.524-98G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208918	NM_017668.3(NDE1):c.524-45C>T	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138430	NM_017668.3(NDE1):c.572C>T (p.Thr191Ile)	NDE1 (T191I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1302367	NM_017668.3(NDE1):c.577A>G (p.Met193Val)	NDE1 (M193V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386002	NM_017668.3(NDE1):c.624C>T (p.Ala208=)	NDE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1307990	NM_017668.3(NDE1):c.638C>T (p.Pro213Leu)	NDE1 (P213L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 30787	NM_017668.3(NDE1):c.684_685del (p.Pro229fs)	NDE1 (P229fs)	Microsatellite (frameshift variant)	NDE1-related microhydranencephaly +2 more	GPathogenic
Select item 1304710	NM_017668.3(NDE1):c.700C>A (p.Arg234Ser)	NDE1 (R234S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 318063	NM_017668.3(NDE1):c.700C>T (p.Arg234Cys)	NDE1 (R234C)	Single nucleotide variant (missense variant)	Lissencephaly 4 +1 more	GConflicting classifications of pathogenicity
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 382222	NM_017668.3(NDE1):c.711C>T (p.Asp237=)	NDE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2497842	NM_017668.3(NDE1):c.722G>C (p.Gly241Ala)	NDE1 (G241A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211579	NM_017668.3(NDE1):c.723G>T (p.Gly241=)	NDE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 159018	NM_017668.3(NDE1):c.744G>A (p.Ala248=)	NDE1	Single nucleotide variant (synonymous variant)	Lissencephaly 4 +1 more	GConflicting classifications of pathogenicity
Select item 511398	NM_017668.3(NDE1):c.762C>T (p.Leu254=)	NDE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1218436	NM_017668.3(NDE1):c.795+98_795+107del	NDE1	Deletion (intron variant)	not provided	GLikely benign
Select item 1292565	NM_017668.3(NDE1):c.795+113A>C	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221856	NM_017668.3(NDE1):c.796-312dup	NDE1	Duplication (intron variant)	not provided	GBenign
Select item 1236917	NM_017668.3(NDE1):c.796-319_796-318insC	NDE1	Insertion (intron variant)	not provided	GBenign
Select item 1254221	NM_017668.3(NDE1):c.796-318A>C	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215496	NM_017668.3(NDE1):c.796-238C>T	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223569	NM_017668.3(NDE1):c.796-77G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312980	NM_017668.3(NDE1):c.809A>G (p.Lys270Arg)	NDE1 (K270R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 387420	NM_017668.3(NDE1):c.831C>T (p.Leu277=)	NDE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 318067	NM_017668.3(NDE1):c.832G>C (p.Val278Leu)	NDE1 (V278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 138431	NM_017668.3(NDE1):c.837C>T (p.Tyr279=)	NDE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 318068	NM_017668.3(NDE1):c.921C>A (p.Ser307Arg)	NDE1 (S307R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1294395	NM_002474.3(MYH11):c.*65dup	MYH11, NDE1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 318085	NM_002474.3(MYH11):c.61_65del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 318086	NM_002474.3(MYH11):c.*37C>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 381045	NM_002474.3(MYH11):c.*19G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 378210	NM_002474.3(MYH11):c.*13A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 192314	NM_002474.3(MYH11):c.*5C>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1249865	NM_002474.3(MYH11):c.*1G>C	NDE1, MYH11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 922387	NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr)	MYH11, NDE1 (S1971T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 419054	NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr)	MYH11, NDE1 (A1963T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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 201045	NM_002474.3(MYH11):c.5873C>T (p.Thr1958Met)	MYH11, NDE1 (T1958M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 807997	NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)	NDE1, MYH11 (E1957Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1319013	NM_002474.3(MYH11):c.5854G>C (p.Asp1952His)	MYH11, NDE1 (D1952H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 920086	NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys)	MYH11, NDE1 (R1952C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
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 3370234	NM_002474.3(MYH11):c.5823G>T (p.Arg1941Ser)	MYH11, NDE1 (R1941S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3364505	NM_002474.3(MYH11):c.5809G>A (p.Val1937Ile)	MYH11, NDE1 (V1937I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
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)	Aortic aneurysm, familial thoracic 6 +5 more	GConflicting classifications of pathogenicity
Select item 1315941	NM_002474.3(MYH11):c.5797G>A (p.Glu1933Lys)	MYH11, NDE1 (E1933K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 201043	NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely 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 928329	NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln)	MYH11, NDE1 (R1937Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 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 1200891	NM_002474.3(MYH11):c.5787-35C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678516	NM_002474.3(MYH11):c.5787-230C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674417	NM_002474.3(MYH11):c.5787-4629_5787-4625del	MYH11, NDE1	Microsatellite (intron variant)	not provided	GBenign
Select item 386332	NM_002474.3(MYH11):c.5787-4661C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681478	NM_002474.3(MYH11):c.5787-4672G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2580832	NM_001040113.2(MYH11):c.*8+1G>A	MYH11, NDE1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 465753	NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 2575725	NM_001040113.2(MYH11):c.5824G>A (p.Glu1942Lys)	MYH11, NDE1 (E1935K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 218497	NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg)	MYH11, NDE1 (Q1941R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 238264	NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys)	MYH11, NDE1 (Q1941K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 238263	NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)	MYH11, NDE1 (Q1934fs +1 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 627645	NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)	NDE1, MYH11 (P1933fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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