GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RPGRIP1L R132Xinsufficiently evaluated pathogenicunknown

(1 web hit)

RPGRIP1L A229Tuncertain pathogenic, f=0.056unknown

This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.

(84 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_H01_200_37
RPGRIP1L K233Xinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

RPGRIP1L Q253Xinsufficiently evaluated pathogenicunknown

(1 web hit)

RPGRIP1L Q345Xinsufficiently evaluated pathogenicunknown

(1 web hit)

RPGRIP1L I389Vinsufficiently evaluated not reviewed, f=0.006unknown var-GS18501-1100-36-ASM
var-GS19701-1100-36-ASM
RPGRIP1L R444Hinsufficiently evaluated none, f=0.000unknown
RPGRIP1L K570Rinsufficiently evaluated not reviewedunknown
RPGRIP1L T615Pinsufficiently evaluated pathogenicunknown

(34 web hits)

RPGRIP1L Q684Xinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

RPGRIP1L A695Pinsufficiently evaluated pathogenicunknown

(2 web hits)

RPGRIP1L R709Linsufficiently evaluated noneunknown
RPGRIP1L R744Qinsufficiently evaluated none, f=0.026unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
RPGRIP1L Q872Xinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

RPGRIP1L G991Sinsufficiently evaluated noneunknown
RPGRIP1L G1025Sinsufficiently evaluated none, f=0.112unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
RPGRIP1L T1143Sinsufficiently evaluated none, f=0.048unknown hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
RPGRIP1L A1183Guncertain benign, f=0.011unknown

Probably not pathogenic, although it may have a modifier effect in other diseases. Other disruptive variants in this gene are implicated in causing Joubert Syndrome and Meckel Syndrome in a recessive manner. Although this variant is somewhat rare (1.1% allele frequency) and Polyphen 2 predicts it to be disruptive, most reported disease-causing variants in the gene are more disruptive frameshift or nonsense mutations & occur upstream of this position.

CGI sample GS000006909
var-GS06994-1100-36-ASM
RPGRIP1L D1184Ninsufficiently evaluated noneunknown
RPGRIP1L D1264Ninsufficiently evaluated none, f=0.041unknown var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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