C3150354[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 260259	NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 2 +3 more	GBenign
Select item 440341	NM_012452.3(TNFRSF13B):c.445+25A>C	TNFRSF13B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 36879	NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=)	TNFRSF13B	Single nucleotide variant (synonymous variant)	Common Variable Immune Deficiency, Dominant +3 more	GBenign