GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PITPNM3 P17Sinsufficiently evaluated none, f=0.087unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM
PITPNM3 A44Tinsufficiently evaluated not reviewedunknown
PITPNM3 A80Tinsufficiently evaluated none, f=0.316unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
PITPNM3 C125Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
PITPNM3 V145Iinsufficiently evaluated not reviewedunknown
PITPNM3 V181Iinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
PITPNM3 I276Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
PITPNM3 R292Winsufficiently evaluated none, f=0.000unknown
PITPNM3 P339Linsufficiently evaluated not reviewedunknown
PITPNM3 R493Winsufficiently evaluated not reviewed, f=0.003unknown var-GS19700-1100-36-ASM
var-GS19026-1100-36-ASM
PITPNM3 Y518Hinsufficiently evaluated not reviewedunknown
PITPNM3 Y554Hinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
PITPNM3 Q626Hlikely pathogenic, f=0.003dominant

This variant is reported to cause cone dystrophy in a dominant manner (defective colour vision, impaired central visual acuity and sensitivity to light). Although the authors reporting this variant are confident in it having a pathogenic effect, observations lack statistical significance. The variant is found in whole genome sequencing from a HapMap individual (GM06985) — assuming these individuals are all healthy, this would imply the variant is not pathogenic, but we are unable to follow up with the individual to confirm that there are no symptoms.

(12 web hits)

var-GS06985-1100-36-ASM
PITPNM3 K866Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
PITPNM3 V929Dinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_D01 from PGP sample 31286272
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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