9126[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 574

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	LOC130004776, LOC130004777 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 151307	GRCh38/hg38 10q25.2(chr10:110543851-110588763)x3	LOC130004727, LOC130004728 +2 more	Copy number gain	See cases	GUncertain significance
Select item 667614	NM_005445.3(SMC3):c.-456A>G	SMC3	Single nucleotide variant	not provided	GBenign
Select item 1208370	NC_000010.11:g.110567609G>A	LOC130004728, SMC3	Single nucleotide variant	not provided	GLikely benign
Select item 877379	NM_005445.3(SMC3):c.-136A>G	SMC3	Single nucleotide variant	Cornelia de Lange syndrome 3	GUncertain significance
Select item 368881	NM_005445.3(SMC3):c.-135G>A	SMC3	Single nucleotide variant	De Lange syndrome	GLikely benign
Select item 368882	NM_005445.3(SMC3):c.-130G>A	SMC3	Single nucleotide variant	De Lange syndrome	GLikely benign
Select item 298758	NM_005445.4(SMC3):c.-115T>C	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298759	NM_005445.4(SMC3):c.-99C>A	SMC3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 298760	NM_005445.4(SMC3):c.-92G>T	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GBenign
Select item 877380	NM_005445.4(SMC3):c.-90G>A	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298761	NM_005445.4(SMC3):c.-74C>A	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 298762	NM_005445.4(SMC3):c.-65T>A	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 931594	NM_005445.4(SMC3):c.7A>G (p.Ile3Val)	SMC3 (I3V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2814703	NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)	SMC3 (I3R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2905044	NM_005445.4(SMC3):c.15+5_15+12del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2812077	NM_005445.4(SMC3):c.15+8C>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2085461	NM_005445.4(SMC3):c.15+11C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2089084	NM_005445.4(SMC3):c.15+12G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 1261004	NM_005445.4(SMC3):c.15+89_15+90insA	SMC3	Insertion (intron variant)	not provided	GBenign
Select item 1206636	NM_005445.4(SMC3):c.15+134G>A	SMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226782	NM_005445.4(SMC3):c.16-158dup	SMC3	Duplication (intron variant)	not provided	GBenign
Select item 1180142	NM_005445.4(SMC3):c.16-160_16-158dup	SMC3	Duplication (intron variant)	not provided	GBenign
Select item 1209217	NM_005445.4(SMC3):c.16-158del	SMC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1246522	NM_005445.4(SMC3):c.16-76_16-73del	SMC3	Deletion (intron variant)	not provided	GBenign
Select item 1233049	NM_005445.4(SMC3):c.16-38dup	SMC3	Duplication (intron variant)	not provided	GBenign
Select item 2893455	NM_005445.4(SMC3):c.16-16G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2080985	NM_005445.4(SMC3):c.33T>C (p.Phe11=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 1756558	NM_005445.4(SMC3):c.69C>T (p.Phe23=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 674950	NM_005445.4(SMC3):c.91+67C>G	SMC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262777	NM_005445.4(SMC3):c.91+225_91+228del	SMC3	Deletion (intron variant)	not provided	GBenign
Select item 1268303	NM_005445.4(SMC3):c.92-298_92-296dup	SMC3	Duplication (intron variant)	not provided	GBenign
Select item 670110	NM_005445.4(SMC3):c.92-193G>A	SMC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261426	NM_005445.4(SMC3):c.92-130_92-128dup	SMC3	Duplication (intron variant)	not provided	GBenign
Select item 259772	NM_005445.4(SMC3):c.92-19A>G	SMC3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2918379	NM_005445.4(SMC3):c.92-18del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 465776	NM_005445.4(SMC3):c.125T>C (p.Phe42Ser)	SMC3 (F42S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 1028889	NM_005445.4(SMC3):c.130+11C>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2882234	NM_005445.4(SMC3):c.130+17G>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 1240897	NM_005445.4(SMC3):c.130+188T>G	SMC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264790	NM_005445.4(SMC3):c.130+193G>A	SMC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022746	NM_005445.4(SMC3):c.131-20A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2872974	NM_005445.4(SMC3):c.131-3C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 217799	NM_005445.4(SMC3):c.139T>C (p.Phe47Leu)	SMC3 (F47L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GPathogenic
Select item 620076	NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)	SMC3 (R61W)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GConflicting classifications of pathogenicity
Select item 878402	NM_005445.4(SMC3):c.198+3G>A	SMC3	Single nucleotide variant (intron variant)	SMC3-related condition +1 more	GLikely benign
Select item 708136	NM_005445.4(SMC3):c.198+7G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3 +1 more	GBenign
Select item 1237776	NM_005445.4(SMC3):c.199-205A>G	SMC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189181	NM_005445.4(SMC3):c.199-202A>C	SMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036354	NM_005445.4(SMC3):c.199-15T>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 287965	NM_005445.4(SMC3):c.255A>T (p.Ser85=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 159980	NM_005445.4(SMC3):c.255A>G (p.Ser85=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 436821	NM_005445.4(SMC3):c.257A>C (p.Asp86Ala)	SMC3 (D86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2716384	NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)	SMC3 (R88Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2906842	NM_005445.4(SMC3):c.264G>T (p.Arg88=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 3045339	NM_005445.4(SMC3):c.270+8A>G	SMC3	Single nucleotide variant (intron variant)	SMC3-related condition	GLikely benign
Select item 515620	NM_005445.4(SMC3):c.270+18dup	SMC3	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2851444	NM_005445.4(SMC3):c.270+18del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 1908750	NM_005445.4(SMC3):c.270+17_270+18del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 1188435	NM_005445.4(SMC3):c.270+97T>A	SMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218786	NM_005445.4(SMC3):c.270+136A>G	SMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218556	NM_005445.4(SMC3):c.271-85T>C	SMC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920029	NM_005445.4(SMC3):c.271-12A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 1909340	NM_005445.4(SMC3):c.271-6T>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2882246	NM_005445.4(SMC3):c.273C>T (p.Ile91=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 436824	NM_005445.4(SMC3):c.274G>T (p.Asp92Tyr)	SMC3 (D92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 298763	NM_005445.4(SMC3):c.276T>C (p.Asp92=)	SMC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 224089	NM_005445.4(SMC3):c.283G>A (p.Glu95Lys)	SMC3 (E95K)	Single nucleotide variant (missense variant)	De Lange syndrome +1 more	GLikely pathogenic
Select item 2663484	NM_005445.4(SMC3):c.295C>T (p.Arg99Ter)	SMC3 (R99*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1690782	NM_005445.4(SMC3):c.299G>A (p.Arg100Lys)	SMC3 (R100K)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2090071	NM_005445.4(SMC3):c.309T>C (p.Gly103=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 1305622	NM_005445.4(SMC3):c.313A>G (p.Lys105Glu)	SMC3 (K105E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1730987	NM_005445.4(SMC3):c.339G>A (p.Lys113=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2807566	NM_005445.4(SMC3):c.350+12T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 2075551	NM_005445.4(SMC3):c.350+21dup	SMC3	Duplication (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 2983599	NM_005445.4(SMC3):c.350+21del	SMC3	Deletion (intron variant)	Cornelia de Lange syndrome 3	GBenign
Select item 2783995	NM_005445.4(SMC3):c.350+19T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 259770	NM_005445.4(SMC3):c.350+21T>A	SMC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1285681	NM_005445.4(SMC3):c.350+30T>G	SMC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233395	NM_005445.4(SMC3):c.351-99T>G	SMC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964448	NM_005445.4(SMC3):c.351-13T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 159986	NM_005445.4(SMC3):c.351-9T>C	SMC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2140317	NM_005445.4(SMC3):c.351-4A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2028617	NM_005445.4(SMC3):c.363G>A (p.Val121=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 522046	NM_005445.4(SMC3):c.367A>T (p.Asn123Tyr)	SMC3 (N123Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298764	NM_005445.4(SMC3):c.369C>T (p.Asn123=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 638053	NM_005445.4(SMC3):c.371T>G (p.Leu124Arg)	SMC3 (L124R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1630286	NM_005445.4(SMC3):c.372C>T (p.Leu124=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 722719	NM_005445.4(SMC3):c.372C>G (p.Leu124=)	SMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 159987	NM_005445.4(SMC3):c.377A>G (p.Glu126Gly)	SMC3 (E126G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2716866	NM_005445.4(SMC3):c.381C>T (p.Ser127=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 695033	NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)	SMC3 (S127R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 424964	NM_005445.4(SMC3):c.385_393del (p.Gly129_Ser131del)	SMC3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2190246	NM_005445.4(SMC3):c.384T>C (p.Ala128=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 1721143	NM_005445.4(SMC3):c.386G>T (p.Gly129Val)	SMC3 (G129V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance

<< First< Prev

Page of 6