GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DSP M1Shiftinsufficiently evaluated not reviewed, f=0.096unknown var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
DSP V30Minsufficiently evaluated pathogenic, f=0.002unknown

(43 web hits)

var-GS20502-1100-36-ASM
DSP Q90Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
DSP N287Kinsufficiently evaluated pathogenicunknown

(4 web hits)

DSP D297Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
DSP S299Rinsufficiently evaluated pathogenicunknown

(30 web hits)

DSP I305Finsufficiently evaluated not reviewed, f=0.028unknown var-GS19735-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B04 from PGP sample 88590671
DSP Q331Xinsufficiently evaluated pathogenicunknown

(9 web hits)

DSP Y494Finsufficiently evaluated not reviewed, f=0.001unknown var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
DSP D521Einsufficiently evaluated not reviewedunknown

(7 web hits)

DSP Q664Xinsufficiently evaluated pathogenicunknown

(9 web hits)

DSP Q678Rinsufficiently evaluated not reviewedunknown
DSP Y763Cinsufficiently evaluated not reviewed, f=0.000unknown
DSP C809Xinsufficiently evaluated pathogenicunknown

(7 web hits)

DSP L851Pinsufficiently evaluated not reviewedunknown
DSP R866Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
DSP Y895Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
DSP G939Sinsufficiently evaluated not reviewed, f=0.015unknown var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
DSP I1164Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
DSP E1234Vinsufficiently evaluated not reviewedunknown
DSP R1239Hinsufficiently evaluated noneunknown

(3 web hits)

DSP R1267Xinsufficiently evaluated pathogenicunknown

(7 web hits)

DSP R1308Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
DSP Q1321Hinsufficiently evaluated not reviewedunknown
DSP R1341Hinsufficiently evaluated not reviewedunknown
DSP T1381Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS18501-1100-36-ASM
var-GS18505-1100-36-ASM
DSP I1474Kinsufficiently evaluated noneunknown
DSP R1485Sinsufficiently evaluated not reviewed, f=0.007unknown var-GS19017-1100-36-ASM
DSP L1489Rlikely pathogenic, f=0.000recessive

Unreported, rare and predicted to be damaging. Some dominant variants in this gene are reported to cause Arrhythmogenic Right Ventricular Dysplasia — this effect is contradicted by the presence of this variant in a healthy PGP participant, although penetrance is reported to be variable. Other recessive missense variants in this gene are reported to cause Skin Fragility-Woolly Hair Syndrome.

CGI sample GS00253-DNA_B02_200_37
DSP Y1512Cinsufficiently evaluated none, f=0.120unknown

(7 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000005532
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
DSP N1526Kinsufficiently evaluated none, f=0.053unknown

(2 web hits)

var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
DSP R1537Cuncertain benign, f=0.010unknown

Probably benign / nonpathogenic.

(2 web hits)

CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS06994-1100-36-ASM
DSP R1738Qinsufficiently evaluated not reviewed, f=0.199unknown

(1 web hit)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DSP R1775Iinsufficiently evaluated pathogenic, f=0.000dominant

Found in one individual with Arrhythmogenic right ventricular cardiomyopathy, and a 52yo female sibling currently asymptomatic but being monitored.

(3 web hits)

DSP E1833Vuncertain benign, f=0.009unknown

Reported to be benign with 1.5% allele frequency, although predicted to have damaging effect by Polyphen 2.

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
DSP R1838Hinsufficiently evaluated none, f=0.000unknown
DSP R1934Xinsufficiently evaluated pathogenicunknown

(9 web hits)

DSP I2073Kinsufficiently evaluated noneunknown
DSP I2093Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
DSP I2263Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
DSP R2366Cinsufficiently evaluated pathogenicunknown

(3 web hits)

DSP S2608Yinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
DSP R2639Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
DSP T2767Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
DSP M2819Linsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
DSP R2834Hinsufficiently evaluated pathogenicunknown

(33 web hits)

DSP I2869Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS06985-1100-36-ASM
DSPP D6Yinsufficiently evaluated pathogenicunknown
DSPP A15Vinsufficiently evaluated pathogenicunknown

This variant was found to segregrate with Dentinogenesis Imperfecta type II in a single family of Central American descent with LOD = 3.3. This gene is associated with the disease, but no other cases have been reported.

DSPP P17Tinsufficiently evaluated pathogenicunknown
DSPP V18Finsufficiently evaluated pathogenicunknown
DSPP Q45Xinsufficiently evaluated pathogenicunknown
DSPP R68Wuncertain benign, f=0.143unknown

Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
DSPP I131Tinsufficiently evaluated not reviewed, f=0.024unknown var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
DSPP P231Tinsufficiently evaluated none, f=0.011unknown

(2 web hits)

var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
DSPP G238Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
DSPP D243Ninsufficiently evaluated none, f=0.021unknown var-GS18942-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
DSPP G268Winsufficiently evaluated none, f=0.011unknown

(1 web hit)

var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
DSPP V355Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS19834-1100-36-ASM
var-GS18508-1100-36-ASM
DSPP V420Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
DSPP N503Kinsufficiently evaluated not reviewedunknown CGI sample GS000006909
DSPP S671Ninsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
DSPP D673Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DSPP N685Sinsufficiently evaluated noneunknown
DSPP N722Dinsufficiently evaluated not reviewed, f=0.009unknown var-GS19704-1100-36-ASM
DSPP D787Ninsufficiently evaluated not reviewed, f=0.006unknown var-GS19020-1100-36-ASM
DSPP S792Ginsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
var-GS18508-1100-36-ASM
DSPP S836Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DSPP G850Sinsufficiently evaluated none, f=0.446unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS18942-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DSPP S885SSDSinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01173-DNA_B02 from PGP sample 94378523
DSPP D913Ninsufficiently evaluated noneunknown
DSPP D949Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
DSPP S960Ginsufficiently evaluated none, f=0.409unknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
DSPP D999Einsufficiently evaluated not reviewedunknown
DSPP N1002Dinsufficiently evaluated none, f=0.247unknown hu232307 build 36 substitution variants
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_B04 from PGP sample 88590671
DSPP N1023Sinsufficiently evaluated not reviewedunknown
DSPP N1029Dinsufficiently evaluated none, f=0.138unknown
DSPP D1074Ginsufficiently evaluated none, f=0.160unknown
DSPP E1083Dinsufficiently evaluated none, f=0.220unknown
DSPP D1101Ninsufficiently evaluated noneunknown
DSPP N1140Dinsufficiently evaluated none, f=0.857unknown hu232307 build 36 substitution variants
DSPP E1149Dinsufficiently evaluated none, f=0.142unknown
DSPP D1152Ninsufficiently evaluated none, f=0.168unknown hu232307 build 36 substitution variants
DSPP D1191Einsufficiently evaluated noneunknown CGI sample GS00253-DNA_C01_200_37
DSPP D1212Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
DSPP D1215Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
DSPP D1221Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
DSPP N1232Sinsufficiently evaluated none, f=0.002unknown
DSPP E1233Dinsufficiently evaluated none, f=0.001unknown
DSPP N1248Dinsufficiently evaluated none, f=0.039unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_A04 from PGP sample 08188426
DSPP D1270Ninsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
var-GS18508-1100-36-ASM
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Total results: 91

Gene search

"GENE" or "GENE A123C":

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