LOC126805994[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
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 636387	NM_001006658.3(CR2):c.818-4C>T	LOC126805994, CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
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 1479116	NM_001006658.3(CR2):c.824T>C (p.Phe275Ser)	CR2, LOC126805994 (F275S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 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 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 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 3269367	NM_001006658.3(CR2):c.889T>A (p.Tyr297Asn)	CR2, LOC126805994 (Y297N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2160103	NM_001006658.3(CR2):c.909C>T (p.Tyr303=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
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 3269369	NM_001006658.3(CR2):c.911C>G (p.Thr304Ser)	CR2, LOC126805994 (T304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 639916	NM_001006658.3(CR2):c.920C>T (p.Pro307Leu)	CR2, LOC126805994 (P307L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	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 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 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 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 546622	NM_001006658.3(CR2):c.970C>T (p.Arg324Cys)	CR2, LOC126805994 (R324C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 916524	NM_001006658.3(CR2):c.977C>T (p.Thr326Ile)	CR2, LOC126805994 (T326I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 2057668	NM_001006658.3(CR2):c.1009_1011dup (p.Gly337_Pro338insGly)	CR2, LOC126805994	Duplication (inframe_insertion)	Immunodeficiency, common variable, 7	GUncertain significance
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 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 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 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 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 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 722254	NM_001006658.3(CR2):c.1043C>T (p.Ala348Val)	CR2, LOC126805994 (A348V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 849010	NM_001006658.3(CR2):c.1064A>G (p.Gln355Arg)	CR2, LOC126805994 (Q355R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
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 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 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 650445	NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter)	CR2, LOC126805994 (R360*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 812044	NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln)	CR2, LOC126805994 (R360Q)	Single nucleotide variant (missense variant)	not specified +2 more	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 744424	NM_001006658.3(CR2):c.1086A>T (p.Val362=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GBenign
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 2917279	NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter)	CR2, LOC126805994 (R368*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
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 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 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 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 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 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 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 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 719458	NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)	CR2, LOC126805994 (M380I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GConflicting classifications of pathogenicity
Select item 1621588	NM_001006658.3(CR2):c.1149C>T (p.Phe383=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
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 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 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 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 2188566	NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)	CR2, LOC126805994 (R392*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
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 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 993592	NM_001006658.3(CR2):c.1187A>G (p.Gln396Arg)	CR2, LOC126805994 (Q396R)	Single nucleotide variant (missense variant)	not provided	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 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 2160101	NM_001006658.3(CR2):c.1206T>C (p.Ser402=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	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 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 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 35454	NM_001006658.3(CR2):c.1225+1G>C	CR2, LOC126805994	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 1434908	NM_001006658.3(CR2):c.1225+6T>C	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2201113	NM_001006658.3(CR2):c.1225+11C>A	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1165023	NM_001006658.3(CR2):c.1225+11C>T	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7 +1 more	GBenign
Select item 1667256	NM_001006658.3(CR2):c.1225+12G>A	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7 +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 1639968	NM_001006658.3(CR2):c.1225+19A>G	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1272694	NM_001006658.3(CR2):c.1225+226T>C	CR2, LOC126805994	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 90