939[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 1281033	NC_000012.12:g.6444626C>G	CD27, CD27-AS1	Single nucleotide variant	not provided	GBenign
Select item 1228878	NC_000012.12:g.6444640G>A	CD27, CD27-AS1	Single nucleotide variant	not provided	GBenign
Select item 1260079	NC_000012.12:g.6444673dup	CD27, CD27-AS1	Duplication	not provided	GBenign
Select item 1256950	NC_000012.12:g.6444673del	CD27, CD27-AS1	Deletion	not provided	GBenign
Select item 1276346	NC_000012.12:g.6444694A>G	CD27, CD27-AS1	Single nucleotide variant	not provided	GBenign
Select item 2443090	NM_001242.5(CD27):c.1A>G (p.Met1Val)	CD27, CD27-AS1 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 663095	NM_001242.5(CD27):c.7C>T (p.Arg3Trp)	CD27, CD27-AS1 (R3W)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1060135	NM_001242.5(CD27):c.8G>A (p.Arg3Gln)	CD27, CD27-AS1 (R3Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2081793	NM_001242.5(CD27):c.15T>G (p.His5Gln)	CD27, CD27-AS1 (H5Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1058086	NM_001242.5(CD27):c.15T>A (p.His5Gln)	CD27, CD27-AS1 (H5Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2065169	NM_001242.5(CD27):c.22T>G (p.Trp8Gly)	CD27, CD27-AS1 (W8G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 972012	NM_001242.5(CD27):c.22T>C (p.Trp8Arg)	CD27, CD27-AS1 (W8R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 40889	NM_001242.5(CD27):c.24G>A (p.Trp8Ter)	CD27, CD27-AS1 (W8*)	Single nucleotide variant (nonsense)	Lymphoproliferative syndrome 2	GPathogenic
Select item 2797363	NM_001242.5(CD27):c.25C>T (p.Leu9=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 473872	NM_001242.5(CD27):c.30C>T (p.Cys10=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2 +2 more	GBenign/Likely benign
Select item 1059188	NM_001242.5(CD27):c.31G>A (p.Val11Ile)	CD27, CD27-AS1 (V11I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1445330	NM_001242.5(CD27):c.37G>T (p.Gly13Trp)	CD27, CD27-AS1 (G13W)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 857202	NM_001242.5(CD27):c.37G>A (p.Gly13Arg)	CD27, CD27-AS1 (G13R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2 +2 more	GUncertain significance
Select item 863143	NM_001242.5(CD27):c.38G>T (p.Gly13Val)	CD27, CD27-AS1 (G13V)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1159552	NM_001242.5(CD27):c.42C>A (p.Thr14=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 3031848	NM_001242.5(CD27):c.51G>C (p.Gly17=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	CD27-related condition	GLikely benign
Select item 1672192	NM_001242.5(CD27):c.63T>A (p.Thr21=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 949703	NM_001242.5(CD27):c.67G>A (p.Ala23Thr)	CD27, CD27-AS1 (A23T)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2720827	NM_001242.5(CD27):c.72C>G (p.Pro24=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1471071	NM_001242.5(CD27):c.73A>G (p.Lys25Glu)	CD27, CD27-AS1 (K25E)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1365459	NM_001242.5(CD27):c.88A>G (p.Arg30Gly)	CD27, CD27-AS1 (R30G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1339535	NM_001242.5(CD27):c.98G>A (p.Trp33Ter)	CD27, CD27-AS1 (W33*)	Single nucleotide variant (nonsense)	Lymphoproliferative syndrome 2	GLikely pathogenic
Select item 1485375	NM_001242.5(CD27):c.101C>T (p.Ala34Val)	CD27, CD27-AS1 (A34V)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2723436	NM_001242.5(CD27):c.106G>A (p.Gly36Arg)	CD27, CD27-AS1 (G36R)	Single nucleotide variant (missense variant +2 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1646759	NM_001242.5(CD27):c.114G>A (p.Leu38=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 581569	NM_001242.5(CD27):c.122A>G (p.Gln41Arg)	CD27, CD27-AS1 (Q41R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1915920	NM_001242.5(CD27):c.129T>C (p.Cys43=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2815156	NM_001242.5(CD27):c.133C>T (p.Pro45Ser)	CD27, CD27-AS1 (P45S)	Single nucleotide variant (missense variant +2 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1168788	NM_001242.5(CD27):c.136+11dup	CD27, CD27-AS1	Duplication (intron variant)	Lymphoproliferative syndrome 2	GBenign
Select item 2746910	NM_001242.5(CD27):c.136+8G>A	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1148271	NM_001242.5(CD27):c.136+10G>A	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1590590	NM_001242.5(CD27):c.136+15T>C	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1996185	NM_001242.5(CD27):c.136+19A>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1672696	NM_001242.5(CD27):c.136+19A>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1225398	NM_001242.5(CD27):c.136+32G>C	CD27, CD27-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2019359	NM_001242.5(CD27):c.137-20C>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2011854	NM_001242.5(CD27):c.137-17T>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2125786	NM_001242.5(CD27):c.137-10C>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2900577	NM_001242.5(CD27):c.137-8C>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2770383	NM_001242.5(CD27):c.137-7C>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2910580	NM_001242.5(CD27):c.137-5C>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1041352	NM_001242.5(CD27):c.143T>A (p.Phe48Tyr)	CD27, CD27-AS1 (F48Y)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1122467	NM_001242.5(CD27):c.147C>T (p.Leu49=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1022183	NM_001242.5(CD27):c.148G>A (p.Val50Met)	CD27, CD27-AS1 (V50M)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 871276	NM_001242.5(CD27):c.154del (p.Asp52fs)	CD27, CD27-AS1 (D52fs)	Deletion (frameshift variant)	Lymphoproliferative syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1444408	NM_001242.5(CD27):c.155A>G (p.Asp52Gly)	CD27, CD27-AS1 (D52G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 40890	NM_001242.5(CD27):c.158G>A (p.Cys53Tyr)	CD27, CD27-AS1 (C53Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2013727	NM_001242.5(CD27):c.166C>T (p.His56Tyr)	CD27, CD27-AS1 (H56Y)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1505043	NM_001242.5(CD27):c.174G>T (p.Lys58Asn)	CD27, CD27-AS1 (K58N)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1168241	NM_001242.5(CD27):c.175G>A (p.Ala59Thr)	CD27, CD27-AS1 (A59T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1346482	NM_001242.5(CD27):c.193T>G (p.Cys65Gly)	CD27, CD27-AS1 (C65G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1966847	NM_001242.5(CD27):c.200C>T (p.Pro67Leu)	CD27, CD27-AS1 (P67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1060181	NM_001242.5(CD27):c.200C>G (p.Pro67Arg)	CD27, CD27-AS1 (P67R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2954993	NM_001242.5(CD27):c.201G>A (p.Pro67=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1354119	NM_001242.5(CD27):c.202G>T (p.Gly68Trp)	CD27, CD27-AS1 (G68W)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 956186	NM_001242.5(CD27):c.205G>T (p.Val69Phe)	CD27, CD27-AS1 (V69F)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 655342	NM_001242.5(CD27):c.206T>C (p.Val69Ala)	CD27-AS1, CD27 (V69A)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1508920	NM_001242.5(CD27):c.208T>C (p.Ser70Pro)	CD27, CD27-AS1 (S70P)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 753269	NM_001242.5(CD27):c.210C>G (p.Ser70=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2857608	NM_001242.5(CD27):c.222C>T (p.Asp74=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 863157	NM_001242.5(CD27):c.223C>A (p.His75Asn)	CD27, CD27-AS1 (H75N)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 473870	NM_001242.5(CD27):c.225C>T (p.His75=)	CD27-AS1, CD27	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2118073	NM_001242.5(CD27):c.226C>T (p.His76Tyr)	CD27, CD27-AS1 (H76Y)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2797821	NM_001242.5(CD27):c.231C>A (p.Thr77=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 649825	NM_001242.5(CD27):c.233G>A (p.Arg78Gln)	CD27, CD27-AS1 (R78Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 578414	NM_001242.5(CD27):c.239dup (p.His80fs)	CD27, CD27-AS1 (H80fs)	Duplication (frameshift variant)	Lymphoproliferative syndrome 2	GPathogenic
Select item 2823604	NM_001242.5(CD27):c.243T>C (p.Cys81=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2005848	NM_001242.5(CD27):c.246G>C (p.Glu82Asp)	CD27, CD27-AS1 (E82D)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 827694	NM_001242.5(CD27):c.250dup (p.Cys84fs)	CD27, CD27-AS1 (C84fs)	Duplication (frameshift variant)	Combined immunodeficiency +1 more	GPathogenic
Select item 666185	NM_001242.5(CD27):c.254G>A (p.Arg85Gln)	CD27, CD27-AS1 (R85Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2126450	NM_001242.5(CD27):c.256del (p.His86fs)	CD27, CD27-AS1 (H86fs)	Deletion (frameshift variant)	Lymphoproliferative syndrome 2	GPathogenic
Select item 1543298	NM_001242.5(CD27):c.261T>C (p.Cys87=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1701181	NM_001242.5(CD27):c.266_267del (p.Ser89fs)	CD27-AS1, CD27 (S89fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1491833	NM_001242.5(CD27):c.268+3G>A	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2688344	NM_001242.5(CD27):c.268+492T>A	CD27, CD27-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1951084	NM_001242.5(CD27):c.269-15C>A	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 473871	NM_001242.5(CD27):c.269-9T>C	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GBenign
Select item 2997363	NM_001242.5(CD27):c.269-8T>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2800252	NM_001242.5(CD27):c.269-7C>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 851730	NM_001242.5(CD27):c.269-3C>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2059876	NM_001242.5(CD27):c.276C>T (p.Leu92=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 575563	NM_001242.5(CD27):c.277G>A (p.Val93Ile)	CD27, CD27-AS1 (V93I)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1984069	NM_001242.5(CD27):c.280C>G (p.Arg94Gly)	CD27, CD27-AS1 (R125G +2 more)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance

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