ClinVar for MedGen (Select 462811) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338300	NM_017668.3(NDE1):c.224T>C (p.Leu75Pro)	NDE1 (L75P)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 3065277	NM_017668.3(NDE1):c.-43-2A>G	NDE1	Single nucleotide variant (splice acceptor variant)	Lissencephaly 4	GUncertain significance
Select item 1805529	NM_017668.3(NDE1):c.777C>G (p.Asp259Glu)	NDE1 (D259E)	Single nucleotide variant (missense variant)	Lissencephaly 4 +2 more	GUncertain significance
Select item 1805528	NM_017668.3(NDE1):c.406G>A (p.Glu136Lys)	NDE1 (E136K)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 1696425	NM_017668.3(NDE1):c.54G>A (p.Trp18Ter)	NDE1 (W18*)	Single nucleotide variant (nonsense)	Lissencephaly 4 +1 more	GPathogenic
Select item 888229	NM_017668.3(NDE1):c.*1383G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 888228	NM_017668.3(NDE1):c.*1366C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 888227	NM_017668.3(NDE1):c.*1305C>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 887717	NM_001143979.1(NDE1):c.-825G>A	NDE1	Single nucleotide variant	Lissencephaly 4	GUncertain significance
Select item 887026	NM_002474.3(MYH11):c.3858+645T>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4 +1 more	GUncertain significance
Select item 887025	NM_017668.3(NDE1):c.*1850G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 886966	NM_017668.3(NDE1):c.*1211A>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 886965	NM_017668.3(NDE1):c.*1209T>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 886964	NM_017668.3(NDE1):c.*1064T>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 886963	NM_017668.3(NDE1):c.*1060A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 886655	NM_017668.3(NDE1):c.814G>A (p.Ala272Thr)	NDE1 (A272T)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 886605	NM_017668.3(NDE1):c.184A>G (p.Arg62Gly)	NDE1 (R62G)	Single nucleotide variant (missense variant)	Lissencephaly 4 +1 more	GUncertain significance
Select item 886533	NM_001143979.2(NDE1):c.-246A>C	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 886033	NM_017668.3(NDE1):c.*1842A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 886032	NM_017668.3(NDE1):c.*1786G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 885962	NM_017668.3(NDE1):c.*901C>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 885894	NM_002474.3(MYH11):c.4116+84G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4 +1 more	GUncertain significance
Select item 885644	NM_017668.3(NDE1):c.712G>A (p.Asp238Asn)	NDE1 (D238N)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 885509	NM_001143979.2(NDE1):c.-302A>G	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GLikely benign
Select item 885117	NM_017668.3(NDE1):c.*1674A>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 885116	NM_017668.3(NDE1):c.*1656C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 885115	NM_017668.3(NDE1):c.*1567G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 885114	NM_002474.3(MYH11):c.3859-768T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 884912	NM_002474.3(MYH11):c.5010G>C (p.Glu1670Asp)	MYH11, NDE1 (E1677D +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 884704	NM_017668.3(NDE1):c.524-6G>A	NDE1	Single nucleotide variant (intron variant)	Lissencephaly 4	GUncertain significance
Select item 884703	NM_017668.3(NDE1):c.291G>A (p.Glu97=)	NDE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884575	NM_001143979.1(NDE1):c.-765C>T	MIR484, NDE1	Single nucleotide variant (non-coding transcript variant)	Lissencephaly 4	GUncertain significance
Select item 884574	NM_001143979.1(NDE1):c.-794C>T	MIR484, NDE1	Single nucleotide variant (non-coding transcript variant)	Lissencephaly 4	GUncertain significance
Select item 800855	NM_017668.3(NDE1):c.214C>T (p.Arg72Cys)	NDE1 (R72C)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 631746	NM_017668.3(NDE1):c.145G>T (p.Glu49Ter)	NDE1 (E49*)	Single nucleotide variant (nonsense)	Lissencephaly 4	GUncertain significance
Select item 625823	GRCh37/hg19 16p13.11(chr16:15758011-15761384)	NDE1	Copy number loss	Lissencephaly 4	GPathogenic
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 435939	NM_017668.3(NDE1):c.83+1G>T	NDE1	Single nucleotide variant (splice donor variant)	Lissencephaly 4	GPathogenic
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 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 318155	NM_002474.3(MYH11):c.3858+507A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GBenign/Likely benign
Select item 318154	NM_002474.3(MYH11):c.3858+567A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318151	NM_002474.3(MYH11):c.3858+789A>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318150	NM_002474.3(MYH11):c.3858+807A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 318149	NM_002474.3(MYH11):c.3858+813T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GBenign/Likely benign
Select item 318148	NM_002474.3(MYH11):c.3858+874G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GBenign
Select item 318147	NM_002474.3(MYH11):c.3859-922G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318146	NM_002474.3(MYH11):c.3859-830T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318145	NM_002474.3(MYH11):c.3859-648C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318144	NM_017668.3(NDE1):c.*1388C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 318143	NM_002474.3(MYH11):c.3859-558T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318142	NM_002474.3(MYH11):c.3859-479C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318141	NM_002474.3(MYH11):c.3859-414T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318140	NM_002474.3(MYH11):c.3859-206C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318139	NM_002474.3(MYH11):c.3859-202G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 318138	NM_002474.3(MYH11):c.3859-173T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4 +1 more	GUncertain significance
Select item 318137	NM_002474.3(MYH11):c.3859-172T>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318135	NM_002474.3(MYH11):c.3859-158G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318134	NM_002474.3(MYH11):c.3859-156T>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 318130	NM_017668.3(NDE1):c.*896A>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 318127	NM_002474.3(MYH11):c.3859-122G>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 318126	NM_002474.3(MYH11):c.3963+44T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318125	NM_017668.3(NDE1):c.*559G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 318124	NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val)	MYH11, NDE1 (E1344V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318122	NM_002474.3(MYH11):c.4116+29A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 318121	NM_002474.3(MYH11):c.4116+52G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318120	NM_002474.3(MYH11):c.4116+110C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 318117	NM_002474.3(MYH11):c.4117-101C>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4 +1 more	GUncertain significance
Select item 318116	NM_002474.3(MYH11):c.4117-80G>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 318115	NM_002474.3(MYH11):c.4117-44C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign
Select item 318114	NM_017668.3(NDE1):c.*193G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4	GUncertain significance
Select item 318081	NM_002474.3(MYH11):c.*420C>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
Select item 318077	NM_002474.3(MYH11):c.*544G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GBenign/Likely benign
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 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 318066	NM_017668.3(NDE1):c.823C>T (p.Arg275Trp)	NDE1 (R275W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 318065	NM_017668.3(NDE1):c.745G>T (p.Ala249Ser)	NDE1 (A249S)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 318064	NM_017668.3(NDE1):c.720C>T (p.Thr240=)	NDE1	Single nucleotide variant (synonymous variant)	Lissencephaly 4 +1 more	GConflicting classifications of pathogenicity
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 318062	NM_017668.3(NDE1):c.690G>A (p.Gly230=)	NDE1	Single nucleotide variant (synonymous variant)	Lissencephaly 4	GUncertain significance
Select item 318061	NM_017668.3(NDE1):c.632C>T (p.Ser211Phe)	NDE1 (S211F)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 318060	NM_017668.3(NDE1):c.436A>T (p.Ile146Phe)	NDE1 (I146F)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 318059	NM_017668.3(NDE1):c.309C>G (p.Thr103=)	NDE1	Single nucleotide variant (synonymous variant)	Lissencephaly 4 +1 more	GConflicting classifications of pathogenicity
Select item 318052	NM_017668.3(NDE1):c.95C>T (p.Thr32Met)	NDE1 (T32M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 318046	NM_017668.3(NDE1):c.35A>G (p.Glu12Gly)	NDE1 (E12G)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
Select item 318045	NM_017668.3(NDE1):c.12C>T (p.Ser4=)	NDE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318044	NM_017668.3(NDE1):c.-35C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318038	NM_001143979.2(NDE1):c.-132C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
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 318036	NM_001143979.2(NDE1):c.-164C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4 +1 more	GBenign
Select item 318033	NM_001143979.2(NDE1):c.-186G>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318032	NM_001143979.2(NDE1):c.-232A>G	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GBenign
Select item 318030	NM_001143979.2(NDE1):c.-340T>A	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318029	NM_001143979.2(NDE1):c.-353A>G	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GLikely benign
Select item 318028	NM_001143979.2(NDE1):c.-398A>C	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318027	NM_001143979.2(NDE1):c.-479C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318026	NM_001143979.2(NDE1):c.-512T>G	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318024	NM_001143979.2(NDE1):c.-535C>A	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GLikely benign
Select item 318022	NM_001143979.2(NDE1):c.-545A>G	NDE1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 318021	NM_001143979.2(NDE1):c.-564C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4 +1 more	GBenign

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