"PreventionGenetics, part of Exact Sciences"[submitter] AND "CR2"[gene - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1149460	NM_001006658.3(CR2):c.21C>T (p.Leu7=)	CR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 971949	NM_001006658.3(CR2):c.376G>A (p.Gly126Arg)	CR2 (G126R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 402563	NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)	CR2 (P175L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +4 more	GConflicting classifications of pathogenicity
Select item 1005385	NM_001006658.3(CR2):c.623_624del (p.Pro208fs)	CR2 (P208fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7 +1 more	GPathogenic/Likely pathogenic
Select item 473101	NM_001006658.3(CR2):c.624C>A (p.Pro208=)	CR2	Single nucleotide variant (synonymous variant)	CR2-related disorder +2 more	GBenign/Likely benign
Select item 439556	NM_001006658.3(CR2):c.624C>G (p.Pro208=)	CR2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 932909	NM_001006658.3(CR2):c.658C>T (p.Arg220Ter)	CR2 (R220*)	Single nucleotide variant (nonsense)	CR2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 658999	NM_001006658.3(CR2):c.659G>A (p.Arg220Gln)	CR2 (R220Q)	Single nucleotide variant (missense variant)	CR2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2160103	NM_001006658.3(CR2):c.909C>T (p.Tyr303=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 812044	NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln)	LOC126805994, CR2 (R360Q)	Single nucleotide variant (missense variant)	CR2-related disorder +2 more	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 +1 more	GConflicting classifications of pathogenicity
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 1655911	NM_001006658.3(CR2):c.1295G>A (p.Gly432Glu)	CR2 (G432E)	Single nucleotide variant (missense variant)	CR2-related disorder +1 more	GLikely benign
Select item 1633184	NM_001006658.3(CR2):c.1383C>G (p.Pro461=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 540319	NM_001006658.3(CR2):c.1622G>T (p.Ser541Ile)	CR2 (S541I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GBenign/Likely benign
Select item 1137380	NM_001006658.3(CR2):c.1965A>G (p.Pro655=)	CR2	Single nucleotide variant (synonymous variant)	CR2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 794880	NM_001006658.3(CR2):c.2155+7del	CR2	Deletion (intron variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 2737777	NM_001006658.3(CR2):c.2323+3A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
Select item 473096	NM_001006658.3(CR2):c.2352T>C (p.Ile784=)	CR2	Single nucleotide variant (synonymous variant)	CR2-related disorder +2 more	GBenign/Likely benign
Select item 664721	NM_001006658.3(CR2):c.2586T>A (p.His862Gln)	CR2 (H862Q +1 more)	Single nucleotide variant (missense variant)	CR2-related disorder +1 more	GUncertain significance
Select item 1014102	NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)	CR2 (C816* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7 +1 more	GPathogenic/Likely pathogenic
Select item 789264	NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile)	CR2 (T857I +1 more)	Single nucleotide variant (missense variant)	CR2-related disorder +2 more	GLikely benign
Select item 3057669	NM_001006658.3(CR2):c.2979A>G (p.Gly993=)	CR2	Single nucleotide variant (synonymous variant)	CR2-related disorder	GLikely benign
Select item 578084	NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu)	CR2 (S1016L +1 more)	Single nucleotide variant (missense variant)	CR2-related disorder +4 more	GUncertain significance
Select item 2629561	NM_001006658.3(CR2):c.3088+1G>T	CR2	Single nucleotide variant (splice donor variant)	CR2-related disorder	GLikely pathogenic
Select item 540312	NM_001006658.3(CR2):c.3187C>T (p.Arg1063Cys)	CR2 (R1063C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +3 more	GUncertain significance
Select item 473099	NM_001006658.3(CR2):c.3189-8_3189-7del	CR2	Deletion (intron variant)	CR2-related disorder +2 more	GBenign/Likely benign

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Items: 27