"Baylor Genetics"[submitter] AND "CR2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032520	NM_001006658.3(CR2):c.446-10G>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	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 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 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 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 449008	NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)	CR2 (G559E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
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 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 784591	NM_001006658.3(CR2):c.2903-3C>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
Select item 1029998	NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu)	CR2 (Q922L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
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