Related gene-specific medical variations for Gene (Select 1380) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065971	NM_001006658.3(CR2):c.1124_1125del (p.Val375fs)	CR2, LOC126805994 (V375fs)	Microsatellite (frameshift variant)	Systemic lupus erythematosus, susceptibility to, 9	GLikely pathogenic
Select item 3017066	NM_001006658.3(CR2):c.1158G>A (p.Lys386=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2917279	NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter)	CR2, LOC126805994 (R368*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2865464	NM_001006658.3(CR2):c.822T>C (p.Ile274=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2831566	NM_001006658.3(CR2):c.933A>G (p.Glu311=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2806517	NM_001006658.3(CR2):c.1194A>G (p.Thr398=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2738600	NM_001006658.3(CR2):c.890A>G (p.Tyr297Cys)	CR2, LOC126805994 (Y297C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2542845	NM_001006658.3(CR2):c.1037C>A (p.Thr346Asn)	CR2, LOC126805994 (T346N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521865	NM_001006658.3(CR2):c.971G>A (p.Arg324His)	CR2, LOC126805994 (R324H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2440535	NM_001006658.3(CR2):c.2997G>T (p.Glu999Asp)	CR2 (E940D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2431698	NM_001006658.3(CR2):c.1015G>T (p.Ala339Ser)	CR2, LOC126805994 (A339S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2431375	NM_001006658.3(CR2):c.1103G>A (p.Arg368Gln)	CR2, LOC126805994 (R368Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2287600	NM_001006658.3(CR2):c.1106A>G (p.Tyr369Cys)	CR2, LOC126805994 (Y369C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201113	NM_001006658.3(CR2):c.1225+11C>A	LOC126805994, CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2188566	NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)	CR2, LOC126805994 (R392*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2176151	NM_001006658.3(CR2):c.1056A>G (p.Pro352=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2167770	NM_001006658.3(CR2):c.818-12C>T	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2160103	NM_001006658.3(CR2):c.909C>T (p.Tyr303=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	CR2-related disorder +1 more	GLikely benign
Select item 2160101	NM_001006658.3(CR2):c.1206T>C (p.Ser402=)	LOC126805994, CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2153222	NM_001006658.3(CR2):c.1069C>T (p.Leu357=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2057668	NM_001006658.3(CR2):c.1009_1011dup (p.Gly337_Pro338insGly)	CR2, LOC126805994	Duplication (inframe_insertion)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2032740	NM_001006658.3(CR2):c.888A>G (p.Ser296=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1998427	NM_001006658.3(CR2):c.1159G>T (p.Gly387Cys)	CR2, LOC126805994 (G387C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1993358	NM_001006658.3(CR2):c.862A>T (p.Ile288Leu)	CR2, LOC126805994 (I288L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1992877	NM_001006658.3(CR2):c.1225G>A (p.Glu409Lys)	CR2, LOC126805994 (E409K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1899840	NM_001006658.3(CR2):c.955G>A (p.Gly319Arg)	CR2, LOC126805994 (G319R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1717234	NM_001006658.3(CR2):c.878C>G (p.Ala293Gly)	CR2, LOC126805994 (A293G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1667256	NM_001006658.3(CR2):c.1225+12G>A	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1639968	NM_001006658.3(CR2):c.1225+19A>G	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1639479	NM_001006658.3(CR2):c.978A>G (p.Thr326=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1629312	NM_001006658.3(CR2):c.1122T>C (p.Thr374=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1621588	NM_001006658.3(CR2):c.1149C>T (p.Phe383=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	CR2-related disorder +1 more	GLikely benign
Select item 1590686	NM_001006658.3(CR2):c.1225+14T>C	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1589403	NM_001006658.3(CR2):c.1215C>T (p.Val405=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1577750	NM_001006658.3(CR2):c.897C>T (p.Ser299=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1547382	NM_001006658.3(CR2):c.993G>A (p.Lys331=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1496750	NM_001006658.3(CR2):c.1094A>G (p.Gln365Arg)	CR2, LOC126805994 (Q365R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1485597	NM_001006658.3(CR2):c.1099G>A (p.Asp367Asn)	CR2, LOC126805994 (D367N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1479116	NM_001006658.3(CR2):c.824T>C (p.Phe275Ser)	CR2, LOC126805994 (F275S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1434908	NM_001006658.3(CR2):c.1225+6T>C	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1406006	NM_001006658.3(CR2):c.1163G>A (p.Ser388Asn)	CR2, LOC126805994 (S388N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1376363	NM_001006658.3(CR2):c.1075G>T (p.Gly359Cys)	CR2, LOC126805994 (G359C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1354818	NM_001006658.3(CR2):c.911C>T (p.Thr304Ile)	CR2, LOC126805994 (T304I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1351465	NM_001006658.3(CR2):c.1225+3G>C	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1349142	NM_001006658.3(CR2):c.980T>C (p.Val327Ala)	CR2, LOC126805994 (V327A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1272694	NM_001006658.3(CR2):c.1225+226T>C	CR2, LOC126805994	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165023	NM_001006658.3(CR2):c.1225+11C>T	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GBenign
Select item 1157810	NM_001006658.3(CR2):c.1116C>T (p.Asn372=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1143490	NM_001006658.3(CR2):c.885C>T (p.Val295=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1131778	NM_001006658.3(CR2):c.975T>C (p.Cys325=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1126070	NM_001006658.3(CR2):c.951T>C (p.Leu317=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1114826	NM_001006658.3(CR2):c.1017C>G (p.Ala339=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1053354	NM_001006658.3(CR2):c.1129T>C (p.Phe377Leu)	CR2, LOC126805994 (F377L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1018003	NM_001006658.3(CR2):c.1191del (p.Thr398fs)	CR2, LOC126805994 (T398fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 993714	NM_001006658.3(CR2):c.2646T>C (p.Asn882=)	CR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 993592	NM_001006658.3(CR2):c.1187A>G (p.Gln396Arg)	CR2, LOC126805994 (Q396R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971534	NM_001006658.3(CR2):c.1117G>A (p.Asp373Asn)	CR2, LOC126805994 (D373N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 963344	NM_001006658.3(CR2):c.910A>G (p.Thr304Ala)	CR2, LOC126805994 (T304A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 957481	NM_001006658.3(CR2):c.1073G>A (p.Arg358Lys)	CR2, LOC126805994 (R358K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 955797	NM_001006658.3(CR2):c.982G>C (p.Asp328His)	CR2, LOC126805994 (D328H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 953439	NM_001006658.3(CR2):c.863T>C (p.Ile288Thr)	CR2, LOC126805994 (I288T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 951488	NM_001006658.3(CR2):c.830C>T (p.Pro277Leu)	CR2, LOC126805994 (P277L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 943925	NM_001006658.3(CR2):c.1175G>A (p.Arg392Gln)	CR2, LOC126805994 (R392Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 940812	NM_001006658.3(CR2):c.1084G>A (p.Val362Ile)	CR2, LOC126805994 (V362I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 930314	NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)	CR2 (C719* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 2	GLikely pathogenic
Select item 916524	NM_001006658.3(CR2):c.977C>T (p.Thr326Ile)	CR2, LOC126805994 (T326I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 849010	NM_001006658.3(CR2):c.1064A>G (p.Gln355Arg)	CR2, LOC126805994 (Q355R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 846191	NM_001006658.3(CR2):c.1021C>T (p.Arg341Cys)	CR2, LOC126805994 (R341C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 812044	NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln)	CR2, LOC126805994 (R360Q)	Single nucleotide variant (missense variant)	CR2-related disorder +2 more	GUncertain significance
Select item 760682	NM_001006658.3(CR2):c.1104A>T (p.Arg368=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 744424	NM_001006658.3(CR2):c.1086A>T (p.Val362=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GBenign
Select item 733053	NM_001006658.3(CR2):c.1008T>C (p.Ser336=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GBenign
Select item 722254	NM_001006658.3(CR2):c.1043C>T (p.Ala348Val)	CR2, LOC126805994 (A348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 719458	NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)	CR2, LOC126805994 (M380I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
Select item 664407	NM_001006658.3(CR2):c.898A>G (p.Ile300Val)	LOC126805994, CR2 (I300V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 656901	NM_001006658.3(CR2):c.1044G>A (p.Ala348=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 655535	NM_001006658.3(CR2):c.921G>A (p.Pro307=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 654371	NM_001006658.3(CR2):c.1022G>A (p.Arg341His)	CR2, LOC126805994 (R341H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 650445	NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter)	CR2, LOC126805994 (R360*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 639916	NM_001006658.3(CR2):c.920C>T (p.Pro307Leu)	LOC126805994, CR2 (P307L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636387	NM_001006658.3(CR2):c.818-4C>T	CR2, LOC126805994	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618045	NM_001006658.3(CR2):c.1152C>T (p.Thr384=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 578201	NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala)	CR2, LOC126805994 (P404A)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +3 more	GUncertain significance
Select item 568328	NM_001006658.3(CR2):c.1180A>C (p.Asn394His)	CR2, LOC126805994 (N394H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 546622	NM_001006658.3(CR2):c.970C>T (p.Arg324Cys)	CR2, LOC126805994 (R324C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 540323	NM_001006658.3(CR2):c.999G>A (p.Gly333=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 478828	NM_001006658.3(CR2):c.-71T>C	LOC129932399, CR2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 35454	NM_001006658.3(CR2):c.1225+1G>C	CR2, LOC126805994	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 7 +1 more	GPathogenic
Select item 17065	NM_001006658.2(CR2):c.[-71T>C;1776G>A1916G>A]	CR2, LOC129932399 (S639N)	Single nucleotide variant (synonymous variant +2 more)	Systemic lupus erythematosus, susceptibility to, 9	Grisk factor

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Items: 89