GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RAG2 V8Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
RAG2 R39Ginsufficiently evaluated pathogenicunknown

(4 web hits)

RAG2 C41Winsufficiently evaluated pathogenicunknown

(7 web hits)

RAG2 T77Ninsufficiently evaluated pathogenicunknown

(5 web hits)

RAG2 G95Rpathogenic, f=0.000recessive

Reported to cause Omenn syndrome in a recessive manner, causing severe immunodeficiency. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000014014/) and comes from a case study by Gomez et al 2000 (PMID: 10891502). Gomez et al observed this variant compound heterozygous with another missense variant in a patient.

(19 web hits)

RAG2 T215Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
RAG2 W215Iinsufficiently evaluated pathogenicunknown

(2 web hits)

RAG2 R229Qinsufficiently evaluated pathogenicunknown

(146 web hits)

RAG2 M285Rinsufficiently evaluated pathogenicunknown

(10 web hits)

RAG2 S291Finsufficiently evaluated not reviewedunknown
RAG2 E293Ginsufficiently evaluated none, f=0.035unknown

(1 web hit)

var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
RAG2 F386Linsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS00253-DNA_A02_200_37
RAG2 G451Ainsufficiently evaluated pathogenic, f=0.000unknown

(6 web hits)

RAG2 C476Yinsufficiently evaluated pathogenicunknown
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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