CR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 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 +1427 more	Copy number gain	See cases	GPathogenic
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 577887	NM_001006658.3(CR2):c.7G>T (p.Ala3Ser)	CR2 (A3S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1945610	NM_001006658.3(CR2):c.9C>T (p.Ala3=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 1020345	NM_001006658.3(CR2):c.12G>A (p.Ala4=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1149460	NM_001006658.3(CR2):c.21C>T (p.Leu7=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +2 more	GLikely benign
Select item 1418007	NM_001006658.3(CR2):c.32T>C (p.Leu11Ser)	CR2 (L11S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2783859	NM_001006658.3(CR2):c.39C>G (p.Leu13=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2781409	NM_001006658.3(CR2):c.40dup (p.Val14fs)	CR2 (V14fs)	Duplication (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 969353	NM_001006658.3(CR2):c.40G>C (p.Val14Leu)	CR2 (V14L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2786041	NM_001006658.3(CR2):c.42C>T (p.Val14=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 540310	NM_001006658.3(CR2):c.52G>A (p.Val18Ile)	CR2 (V18I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2112836	NM_001006658.3(CR2):c.54C>T (p.Val18=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1567221	NM_001006658.3(CR2):c.58+12G>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2101182	NM_001006658.3(CR2):c.58+13G>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1168459	NM_001006658.3(CR2):c.58+13G>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GBenign
Select item 1489151	NM_001006658.3(CR2):c.58+19C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1166837	NM_001006658.3(CR2):c.58+97G>A	CR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1226449	NM_001006658.3(CR2):c.59-176C>G	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1653334	NM_001006658.3(CR2):c.59-20G>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1590611	NM_001006658.3(CR2):c.59-17C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1902455	NM_001006658.3(CR2):c.59-13T>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1577061	NM_001006658.3(CR2):c.59-12T>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1611796	NM_001006658.3(CR2):c.59-10T>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 725664	NM_001006658.3(CR2):c.59-8C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2018054	NM_001006658.3(CR2):c.59-5T>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1974277	NM_001006658.3(CR2):c.67T>C (p.Cys23Arg)	CR2 (C23R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1051041	NM_001006658.3(CR2):c.74C>G (p.Ser25Cys)	CR2 (S25C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1043152	NM_001006658.3(CR2):c.80C>T (p.Pro27Leu)	CR2 (P27L)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +2 more	GUncertain significance
Select item 1644373	NM_001006658.3(CR2):c.81G>A (p.Pro27=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2850898	NM_001006658.3(CR2):c.96C>T (p.Gly32=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1437371	NM_001006658.3(CR2):c.97C>T (p.Arg33Trp)	CR2 (R33W)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1916457	NM_001006658.3(CR2):c.98G>A (p.Arg33Gln)	CR2 (R33Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2903638	NM_001006658.3(CR2):c.120C>T (p.Pro40=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2715673	NM_001006658.3(CR2):c.125C>T (p.Ala42Val)	CR2 (A42V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1462369	NM_001006658.3(CR2):c.127G>C (p.Val43Leu)	CR2 (V43L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 788181	NM_001006658.3(CR2):c.135C>T (p.Thr45=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2231197	NM_001006658.3(CR2):c.141A>G (p.Ile47Met)	CR2 (I47M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 834450	NM_001006658.3(CR2):c.151T>G (p.Cys51Gly)	CR2 (C51G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2021764	NM_001006658.3(CR2):c.156A>G (p.Ser52=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1395539	NM_001006658.3(CR2):c.166C>T (p.Arg56Cys)	CR2 (R56C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1011835	NM_001006658.3(CR2):c.167G>A (p.Arg56His)	CR2 (R56H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1142463	NM_001006658.3(CR2):c.168C>T (p.Arg56=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 841700	NM_001006658.3(CR2):c.169C>T (p.Leu57Phe)	CR2 (L57F)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1110679	NM_001006658.3(CR2):c.171C>T (p.Leu57=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1351587	NM_001006658.3(CR2):c.173T>C (p.Ile58Thr)	CR2 (I58T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1362177	NM_001006658.3(CR2):c.182A>C (p.Lys61Thr)	CR2 (K61T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1960378	NM_001006658.3(CR2):c.184A>C (p.Ser62Arg)	CR2 (S62R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1115130	NM_001006658.3(CR2):c.189A>G (p.Leu63=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2042709	NM_001006658.3(CR2):c.192A>T (p.Leu64Phe)	CR2 (L64F)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1718298	NM_001006658.3(CR2):c.193T>C (p.Cys65Arg)	CR2 (C65R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 731403	NM_001006658.3(CR2):c.200C>G (p.Thr67Ser)	CR2 (T67S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GBenign
Select item 1941823	NM_001006658.3(CR2):c.202A>G (p.Lys68Glu)	CR2 (K68E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 853845	NM_001006658.3(CR2):c.206A>G (p.Asp69Gly)	CR2 (D69G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1414236	NM_001006658.3(CR2):c.212T>C (p.Val71Ala)	CR2 (V71A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2037267	NM_001006658.3(CR2):c.213G>A (p.Val71=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 992567	NM_001006658.3(CR2):c.214G>A (p.Asp72Asn)	CR2 (D72N)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +1 more	GUncertain significance
Select item 1047314	NM_001006658.3(CR2):c.215A>G (p.Asp72Gly)	CR2 (D72G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1148585	NM_001006658.3(CR2):c.222C>G (p.Thr74=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1542218	NM_001006658.3(CR2):c.231A>G (p.Lys77=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 3077067	NM_001006658.3(CR2):c.236C>T (p.Ala79Val)	CR2 (A79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2958784	NM_001006658.3(CR2):c.237T>C (p.Ala79=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 646540	NM_001006658.3(CR2):c.243del (p.Lys81fs)	CR2 (K81fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 1025507	NM_001006658.3(CR2):c.242A>G (p.Lys81Arg)	CR2 (K81R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1537187	NM_001006658.3(CR2):c.249A>G (p.Glu83=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 655680	NM_001006658.3(CR2):c.249A>C (p.Glu83Asp)	CR2 (E83D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1396808	NM_001006658.3(CR2):c.283A>G (p.Ile95Val)	CR2 (I95V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2465966	NM_001006658.3(CR2):c.306T>G (p.Ile102Met)	CR2 (I102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1510271	NM_001006658.3(CR2):c.317C>T (p.Thr106Ile)	CR2 (T106I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1005765	NM_001006658.3(CR2):c.325A>G (p.Arg109Gly)	CR2 (R109G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1105869	NM_001006658.3(CR2):c.327A>G (p.Arg109=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1002089	NM_001006658.3(CR2):c.334G>A (p.Asp112Asn)	CR2 (D112N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 648473	NM_001006658.3(CR2):c.357A>G (p.Lys119=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1622612	NM_001006658.3(CR2):c.363C>T (p.Asn121=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2140963	NM_001006658.3(CR2):c.369C>T (p.Ser123=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2190139	NM_001006658.3(CR2):c.370A>G (p.Met124Val)	CR2 (M124V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 540317	NM_001006658.3(CR2):c.375C>T (p.Asn125=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GBenign
Select item 971949	NM_001006658.3(CR2):c.376G>A (p.Gly126Arg)	CR2 (G126R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +2 more	GUncertain significance
Select item 1153501	NM_001006658.3(CR2):c.381C>T (p.Asn127=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 540315	NM_001006658.3(CR2):c.389T>C (p.Val130Ala)	CR2 (V130A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
Select item 2086090	NM_001006658.3(CR2):c.412del (p.Trp138fs)	CR2 (W138fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 1980376	NM_001006658.3(CR2):c.417G>A (p.Gly139=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
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 2977356	NM_001006658.3(CR2):c.420G>A (p.Pro140=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 540314	NM_001006658.3(CR2):c.424C>T (p.Arg142Ter)	CR2 (R142*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 1511842	NM_001006658.3(CR2):c.425G>T (p.Arg142Leu)	CR2 (R142L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2134710	NM_001006658.3(CR2):c.431C>T (p.Pro144Leu)	CR2 (P144L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 1656544	NM_001006658.3(CR2):c.435C>T (p.Thr145=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2085824	NM_001006658.3(CR2):c.438T>G (p.Cys146Trp)	CR2 (C146W)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 855596	NM_001006658.3(CR2):c.445+6T>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 872561	NM_001006658.3(CR2):c.445+7A>G	CR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1153467	NM_001006658.3(CR2):c.445+9G>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 1169106	NM_001006658.3(CR2):c.445+17A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GBenign
Select item 1230919	NM_001006658.3(CR2):c.445+88G>T	CR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1232105	NM_001006658.3(CR2):c.445+235C>T	CR2	Single nucleotide variant (intron variant)	not provided	GBenign

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