NDE1[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 186

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 887717	NM_001143979.1(NDE1):c.-825G>A	NDE1	Single nucleotide variant	Lissencephaly 4	GUncertain significance
Select item 318015	NM_001143979.1(NDE1):c.-812C>T	NDE1	Single nucleotide variant	Lissencephaly 4	GUncertain significance
Select item 318018	NM_001143979.2(NDE1):c.-695C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318019	NM_001143979.2(NDE1):c.-687C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GLikely benign
Select item 318020	NM_001143979.2(NDE1):c.-675G>A	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4 +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
Select item 318022	NM_001143979.2(NDE1):c.-545A>G	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4 +1 more	GBenign
Select item 318023	NM_001143979.2(NDE1):c.-535del	NDE1	Deletion (5 prime UTR variant)	Lissencephaly, Recessive	GLikely benign
Select item 318024	NM_001143979.2(NDE1):c.-535C>A	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GLikely benign
Select item 318025	NM_001143979.2(NDE1):c.-512dup	NDE1	Duplication (5 prime UTR variant)	Lissencephaly, Recessive	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 318027	NM_001143979.2(NDE1):c.-479C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
Select item 318028	NM_001143979.2(NDE1):c.-398A>C	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 318030	NM_001143979.2(NDE1):c.-340T>A	NDE1	Single nucleotide variant (5 prime UTR 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 318031	NM_001143979.2(NDE1):c.-261_-258del	NDE1	Deletion (5 prime UTR variant)	Lissencephaly, Recessive	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 318032	NM_001143979.2(NDE1):c.-232A>G	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	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 318035	NM_001143979.2(NDE1):c.-165-12_-165-9del	NDE1	Deletion (intron variant)	Lissencephaly, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 318036	NM_001143979.2(NDE1):c.-164C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 318037	NM_001143979.2(NDE1):c.-152C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4 +1 more	GBenign
Select item 318038	NM_001143979.2(NDE1):c.-132C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
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 224608	NM_017668.3(NDE1):c.-43-3548_83+622del	NDE1	Deletion (splice acceptor variant +2 more)	NDE1-related microhydranencephaly	GPathogenic
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 3065277	NM_017668.3(NDE1):c.-43-2A>G	NDE1	Single nucleotide variant (splice acceptor variant)	Lissencephaly 4	GUncertain significance
Select item 318044	NM_017668.3(NDE1):c.-35C>T	NDE1	Single nucleotide variant (5 prime UTR variant)	Lissencephaly 4	GUncertain significance
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 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 1350213	NM_017668.3(NDE1):c.13G>A (p.Gly5Arg)	NDE1 (G5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435317	NM_017668.3(NDE1):c.24C>A (p.Phe8Leu)	NDE1 (F8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298663	NM_017668.3(NDE1):c.26G>C (p.Ser9Thr)	NDE1 (S9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1696425	NM_017668.3(NDE1):c.54G>A (p.Trp18Ter)	NDE1 (W18*)	Single nucleotide variant (nonsense)	Lissencephaly 4 +1 more	GPathogenic
Select item 2182490	NM_017668.3(NDE1):c.66G>A (p.Ala22=)	NDE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435939	NM_017668.3(NDE1):c.83+1G>T	NDE1	Single nucleotide variant (splice donor variant)	Lissencephaly 4	GPathogenic
Select item 1937113	NM_017668.3(NDE1):c.83+8C>T	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 762258	NM_017668.3(NDE1):c.83+9G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 159019	NM_017668.3(NDE1):c.84-5T>C	NDE1	Single nucleotide variant (intron variant)	Lissencephaly 4	GUncertain significance
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 1933507	NM_017668.3(NDE1):c.96G>A (p.Thr32=)	NDE1	Single nucleotide variant (synonymous 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 211576	NM_017668.3(NDE1):c.117C>T (p.Phe39=)	NDE1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1120133	NM_017668.3(NDE1):c.130C>T (p.Arg44Ter)	NDE1 (R44*)	Single nucleotide variant (nonsense)	not specified	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 712177	NM_017668.3(NDE1):c.147A>G (p.Glu49=)	NDE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 975758	NM_017668.3(NDE1):c.182A>G (p.Asn61Ser)	NDE1 (N61S)	Single nucleotide variant (missense variant)	not provided	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 800855	NM_017668.3(NDE1):c.214C>T (p.Arg72Cys)	NDE1 (R72C)	Single nucleotide variant (missense variant)	Lissencephaly 4	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 3298953	NM_017668.3(NDE1):c.217A>G (p.Met73Val)	NDE1 (M73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2769147	NM_017668.3(NDE1):c.238-20G>C	NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 211578	NM_001143979.1(NDE1):c.238_240del	NDE1	Deletion	not specified	GUncertain significance
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 1500841	NM_017668.3(NDE1):c.272G>A (p.Arg91Gln)	NDE1 (R91Q)	Single nucleotide variant (missense variant)	not provided	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 742878	NM_017668.3(NDE1):c.300C>T (p.Leu100=)	NDE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2284421	NM_017668.3(NDE1):c.325C>G (p.Gln109Glu)	NDE1 (Q109E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2729385	NM_017668.3(NDE1):c.348G>A (p.Glu116=)	NDE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947437	NM_017668.3(NDE1):c.366C>T (p.Asp122=)	NDE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2231964	NM_017668.3(NDE1):c.386G>A (p.Arg129His)	NDE1 (R129H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 288990	NM_017668.3(NDE1):c.387-5G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1943829	NM_017668.3(NDE1):c.387C>A (p.Arg129=)	NDE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2264729	NM_017668.3(NDE1):c.388G>A (p.Ala130Thr)	NDE1 (A130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 318060	NM_017668.3(NDE1):c.436A>T (p.Ile146Phe)	NDE1 (I146F)	Single nucleotide variant (missense variant)	Lissencephaly 4	GUncertain significance
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 198124	NM_017668.3(NDE1):c.513T>C (p.Asp171=)	NDE1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1298273	NM_017668.3(NDE1):c.524-98G>A	NDE1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2