"GeneDx"[submitter] AND "CR2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 478828	NM_001006658.3(CR2):c.-71T>C	CR2, LOC129932399	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 1230919	NM_001006658.3(CR2):c.445+88G>T	CR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1232105	NM_001006658.3(CR2):c.445+235C>T	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263891	NM_001006658.3(CR2):c.446-32C>T	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1420501	NM_001006658.3(CR2):c.485A>G (p.Asn162Ser)	CR2 (N162S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
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 1278921	NM_001006658.3(CR2):c.734+51G>A	CR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1272694	NM_001006658.3(CR2):c.1225+226T>C	CR2, LOC126805994	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235733	NM_001006658.3(CR2):c.1226-136G>A	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226373	NM_001006658.3(CR2):c.1571-222G>A	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256729	NM_001006658.3(CR2):c.1571-161C>A	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
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 402558	NM_001006658.3(CR2):c.1776G>A (p.Leu592=)	CR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 402559	NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn)	CR2 (S639N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 402560	NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro)	CR2 (S663P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 402561	NM_001006658.3(CR2):c.2012G>A (p.Arg671His)	CR2 (R671H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1272463	NM_001006658.3(CR2):c.2240+109A>G	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 473097	NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)	CR2 (W766* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
Select item 1263718	NM_001006658.3(CR2):c.2324-176C>A	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343431	NM_001006658.3(CR2):c.2747C>A (p.Thr916Asn)	CR2 (T857N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726711	NM_001006658.3(CR2):c.2836G>A (p.Val946Met)	CR2 (V946M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1279774	NM_001006658.3(CR2):c.2903-292G>T	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229145	NM_001006658.3(CR2):c.2903-171T>C	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234674	NM_001006658.3(CR2):c.3089-288TTTTTG[4]	CR2	Microsatellite (intron variant)	not provided	GBenign
Select item 1241390	NM_001006658.3(CR2):c.3113-217A>C	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226041	NM_001006658.3(CR2):c.3113-145C>G	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810914	NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val)	CR2 (I1052V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GBenign
Select item 402562	NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu)	CR2 (A1062E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1244973	NM_001006658.3(CR2):c.3188+46T>A	CR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 32