"Genome-Nilou Lab"[submitter] AND "CR2"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 478828	NM_001006658.3(CR2):c.-71T>C	CR2, LOC129932399	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1149460	NM_001006658.3(CR2):c.21C>T (p.Leu7=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 1166837	NM_001006658.3(CR2):c.58+97G>A	CR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1974277	NM_001006658.3(CR2):c.67T>C (p.Cys23Arg)	CR2 (C23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1043152	NM_001006658.3(CR2):c.80C>T (p.Pro27Leu)	CR2 (P27L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +2 more	GUncertain significance
Select item 655680	NM_001006658.3(CR2):c.249A>C (p.Glu83Asp)	CR2 (E83D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +3 more	GUncertain significance
Select item 651355	NM_001006658.3(CR2):c.250T>C (p.Tyr84His)	CR2 (Y84H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 916523	NM_001006658.3(CR2):c.276T>G (p.Pro92=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 971949	NM_001006658.3(CR2):c.376G>A (p.Gly126Arg)	CR2 (G126R)	Single nucleotide variant (missense variant)	CR2-related disorder +2 more	GUncertain significance
Select item 807908	NM_001006658.3(CR2):c.419C>T (p.Pro140Leu)	CR2 (P140L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 638326	NM_001006658.3(CR2):c.462T>A (p.Cys154Ter)	CR2 (C154*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 1420501	NM_001006658.3(CR2):c.485A>G (p.Asn162Ser)	CR2 (N162S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 933915	NM_001006658.3(CR2):c.565C>T (p.Leu189Phe)	CR2 (L189F)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 954979	NM_001006658.3(CR2):c.593dup (p.Leu198fs)	CR2 (L198fs)	Duplication (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 1683519	NM_001006658.3(CR2):c.624dup (p.Thr209fs)	CR2 (T209fs)	Duplication (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic/Likely pathogenic
Select item 1005385	NM_001006658.3(CR2):c.623_624del (p.Pro208fs)	CR2 (P208fs)	Deletion (frameshift variant)	CR2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 759204	NM_001006658.3(CR2):c.621C>T (p.Pro207=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 473101	NM_001006658.3(CR2):c.624C>A (p.Pro208=)	CR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 439556	NM_001006658.3(CR2):c.624C>G (p.Pro208=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +3 more	GBenign/Likely benign
Select item 1003117	NM_001006658.3(CR2):c.697C>T (p.Arg233Trp)	CR2 (R233W)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 571680	NM_001006658.3(CR2):c.728A>T (p.Asp243Val)	CR2 (D243V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033184	NM_001006658.3(CR2):c.752C>T (p.Pro251Leu)	CR2 (P251L)	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)	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 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 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 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 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 812044	NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln)	CR2, LOC126805994 (R360Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +2 more	GUncertain significance
Select item 760682	NM_001006658.3(CR2):c.1104A>T (p.Arg368=)	LOC126805994, CR2	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 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 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 35454	NM_001006658.3(CR2):c.1225+1G>C	CR2, LOC126805994	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 473094	NM_001006658.3(CR2):c.1458T>C (p.Phe486=)	CR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1484649	NM_001006658.3(CR2):c.1468G>C (p.Asp490His)	CR2 (D490H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 665869	NM_001006658.3(CR2):c.1475A>G (p.Asn492Ser)	CR2 (N492S)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +1 more	GUncertain significance
Select item 473095	NM_001006658.3(CR2):c.1617C>T (p.Thr539=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GBenign
Select item 937527	NM_001006658.3(CR2):c.1687G>A (p.Gly563Arg)	CR2 (G563R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 402558	NM_001006658.3(CR2):c.1776G>A (p.Leu592=)	CR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 402559	NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn)	CR2 (S639N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 937776	NM_001006658.3(CR2):c.1927C>T (p.Arg643Cys)	CR2 (R643C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 540316	NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr)	CR2 (C644Y)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 402560	NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro)	CR2 (S663P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 402561	NM_001006658.3(CR2):c.2012G>A (p.Arg671His)	CR2 (R671H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 626091	NM_001006658.3(CR2):c.2030C>T (p.Thr677Met)	CR2 (T677M)	Single nucleotide variant (missense variant +1 more)	Systemic lupus erythematosus, susceptibility to, 9 +1 more	GUncertain significance
Select item 1419121	NM_001006658.3(CR2):c.2087T>C (p.Leu696Pro)	CR2 (L696P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1464821	NM_001006658.3(CR2):c.2132G>A (p.Ser711Asn)	CR2 (S711N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1494476	NM_001006658.3(CR2):c.2144C>T (p.Pro715Leu)	CR2 (P715L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 636497	NM_001006658.3(CR2):c.2147G>A (p.Arg716Gln)	CR2 (R716Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1108068	NM_001006658.3(CR2):c.2156-16A>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7 +2 more	GLikely benign
Select item 618588	NM_001006658.3(CR2):c.2328T>C (p.Ile776=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GBenign
Select item 473096	NM_001006658.3(CR2):c.2352T>C (p.Ile784=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GBenign/Likely benign
Select item 1339146	NM_001006658.3(CR2):c.2495G>A (p.Ser832Asn)	CR2 (S773N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1029997	NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg)	CR2 (G833R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1006949	NM_001006658.3(CR2):c.2561A>G (p.His854Arg)	CR2 (H795R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 664721	NM_001006658.3(CR2):c.2586T>A (p.His862Gln)	CR2 (H862Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 439554	NM_001006658.3(CR2):c.2611G>T (p.Val871Leu)	CR2 (V871L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +2 more	GLikely benign
Select item 1014102	NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)	CR2 (C816* +1 more)	Single nucleotide variant (nonsense)	CR2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 439555	NM_001006658.3(CR2):c.2649T>C (p.Gly883=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GBenign
Select item 662950	NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr)	CR2 (I849T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 789264	NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile)	CR2 (T857I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 439557	NM_001006658.3(CR2):c.2844G>A (p.Glu948=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GBenign/Likely benign
Select item 2102940	NM_001006658.3(CR2):c.2873C>A (p.Thr958Asn)	CR2 (T958N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 999079	NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys)	CR2 (Y933C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1509618	NM_001006658.3(CR2):c.2990C>T (p.Thr997Ile)	CR2 (T997I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 578084	NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu)	CR2 (S1016L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2 +4 more	GUncertain significance
Select item 810914	NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val)	CR2 (I1052V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GBenign
Select item 402562	NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu)	CR2 (A1062E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 540312	NM_001006658.3(CR2):c.3187C>T (p.Arg1063Cys)	CR2 (R1063C +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +4 more	GUncertain significance
Select item 473099	NM_001006658.3(CR2):c.3189-8_3189-7del	CR2	Deletion (intron variant)	Immunodeficiency, common variable, 7 +1 more	GBenign/Likely benign
Select item 961095	NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala)	CR2 (D1068A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2419618	NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys)	CR2 (T1010K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 661535	NM_001006658.3(CR2):c.3211C>A (p.Gln1071Lys)	CR2 (Q1012K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1039219	NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs)	CR2 (V1082fs +1 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7 +2 more	GUncertain significance
Select item 473100	NM_001006658.3(CR2):c.3251C>A (p.Ser1084Tyr)	CR2 (S1084Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 76