GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
CRB1 R33Sinsufficiently evaluated none, f=0.007unknown
CRB1 C54Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CRB1 V162Mpathogenic, f=0.001dominant

Very rare, reported to cause pigmented paravenous chorioretinal atrophy in a dominant manner, with variable effect — some carriers asymptomatic, while another had vision loss in early 30s. Only one family reported. This variant had a strong association with the disease in that family, but different publication concluded the variant is benign and does not segregate with disease.

(3 web hits)

CRB1 R365Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
CRB1 T745Minsufficiently evaluated pathogenic, f=0.000unknown

(21 web hits)

CRB1 R764Cinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

CRB1 R769Hinsufficiently evaluated none, f=0.000unknown

(2 web hits)

CGI sample GS01173-DNA_H06 from PGP sample 91708424
CRB1 I800Vinsufficiently evaluated none, f=0.001unknown var-GS19129-1100-36-ASM
CRB1 K801Xinsufficiently evaluated pathogenic, f=0.000unknown

(15 web hits)

CRB1 P836Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19703-1100-36-ASM
CRB1 P914Tinsufficiently evaluated not reviewedunknown
CRB1 E995Xinsufficiently evaluated pathogenicunknown

(3 web hits)

CRB1 M1041Tinsufficiently evaluated pathogenicunknown

(4 web hits)

CRB1 H1087Rinsufficiently evaluated not reviewedunknown
CRB1 I1100Rinsufficiently evaluated pathogenicunknown

(6 web hits)

CRB1 G1103Rinsufficiently evaluated pathogenicunknown

(31 web hits)

CRB1 C1181Rinsufficiently evaluated pathogenicunknown

(8 web hits)

CRB1 H1199Rinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
CRB1 E1333Xinsufficiently evaluated pathogenicunknown

(5 web hits)

CRB1 I1344Vinsufficiently evaluated not reviewed, f=0.000unknown
Page: 1 2
Total results: 20

Gene search

"GENE" or "GENE A123C":

Log in