ClinVar for MedGen (Select 369736) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065971	NM_001006658.3(CR2):c.1124_1125del (p.Val375fs)	CR2, LOC126805994 (V375fs)	Microsatellite (frameshift variant)	Systemic lupus erythematosus, susceptibility to, 9	GLikely pathogenic
Select item 2500016	NM_001006658.3(CR2):c.3112G>A (p.Gly1038Ser)	CR2 (G1038S +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +1 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 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 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 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 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 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 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 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 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 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 546622	NM_001006658.3(CR2):c.970C>T (p.Arg324Cys)	CR2, LOC126805994 (R324C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 402563	NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)	CR2 (P175L)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +3 more	GConflicting classifications of pathogenicity
Select item 252503	NM_001006658.3(CR2):c.3033G>C (p.Gln1011His)	CR2 (Q1011H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +3 more	GConflicting classifications of pathogenicity
Select item 17065	NM_001006658.2(CR2):c.[-71T>C;1776G>A1916G>A]	CR2, LOC129932399 (S639N)	Single nucleotide variant (synonymous variant +2 more)	Systemic lupus erythematosus, susceptibility to, 9	Grisk factor