GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PCDH15 R3Xinsufficiently evaluated pathogenicunknown

(17 web hits)

PCDH15 S19Ainsufficiently evaluated none, f=0.218unknown

(8 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
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
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM (hom)
PCDH15 R134Ginsufficiently evaluated pathogenicunknown

(24 web hits)

PCDH15 C231Rinsufficiently evaluated not reviewedunknown

(2 web hits)

PCDH15 R245Xinsufficiently evaluated pathogenicunknown

(149 web hits)

PCDH15 C246Rinsufficiently evaluated not reviewedunknown
PCDH15 G262Dinsufficiently evaluated pathogenicunknown

(23 web hits)

PCDH15 C268Rinsufficiently evaluated not reviewedunknown
PCDH15 C273Rinsufficiently evaluated not reviewedunknown
PCDH15 G343Sinsufficiently evaluated noneunknown
PCDH15 L352Finsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
PCDH15 G358Sinsufficiently evaluated noneunknown
PCDH15 G380Sinsufficiently evaluated none, f=0.227unknown

(3 web hits)

var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
PCDH15 G385Sinsufficiently evaluated none, f=0.235unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PCDH15 D398Ainsufficiently evaluated not reviewedunknown

(13 web hits)

hu728FFF build 36 substitution variants (hom)
PCDH15 D413Ainsufficiently evaluated not reviewedunknown

(3 web hits)

hu728FFF build 36 substitution variants (hom)
PCDH15 V417Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 V432Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 D435Ainsufficiently evaluated not reviewed, f=0.242unknown

(5 web hits)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
PCDH15 D440Ainsufficiently evaluated not reviewed, f=0.131unknown

(3 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
hu728FFF build 36 substitution variants (hom)
PCDH15 V454Iinsufficiently evaluated not reviewedunknown
PCDH15 V459Iinsufficiently evaluated not reviewed, f=0.013unknown
PCDH15 V466Iinsufficiently evaluated not reviewedunknown

(2 web hits)

PCDH15 A568Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS19701-1100-36-ASM
var-GS19017-1100-36-ASM
PCDH15 A573Tinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
PCDH15 N600Sinsufficiently evaluated noneunknown
PCDH15 N615Sinsufficiently evaluated noneunknown
PCDH15 N637Suncertain benign, f=0.048unknown

Probably non-pathogenic. Found in a gene associated with Usher syndrome and predicted damaging by Polyphen 2, but 5% allele frequency in controls strongly contradicts any severe high penetrance effect.

(1 web hit)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS06985-1100-36-ASM
PCDH15 N642Sinsufficiently evaluated none, f=0.032unknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
PCDH15 S647Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PCDH15 N649Sinsufficiently evaluated noneunknown
PCDH15 I741Tinsufficiently evaluated not reviewedunknown
PCDH15 I775Tinsufficiently evaluated not reviewedunknown
PCDH15 I776Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PCDH15 I790Tinsufficiently evaluated not reviewedunknown
PCDH15 I812Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
PCDH15 I817Tinsufficiently evaluated not reviewed, f=0.002unknown
PCDH15 I824Tinsufficiently evaluated not reviewedunknown
PCDH15 R858Qinsufficiently evaluated noneunknown
PCDH15 R892Qinsufficiently evaluated noneunknown
PCDH15 R907Qinsufficiently evaluated noneunknown
PCDH15 A910Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
PCDH15 R929Qinsufficiently evaluated none, f=0.188unknown

(2 web hits)

var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
PCDH15 R934Qinsufficiently evaluated none, f=0.209unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
PCDH15 R941Qinsufficiently evaluated noneunknown
PCDH15 R962Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
PCDH15 R962Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
PCDH15 V1107Iinsufficiently evaluated not reviewedunknown
PCDH15 Y1110Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 A1128Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
PCDH15 V1141Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 Y1144Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 V1156Iinsufficiently evaluated not reviewedunknown

(1 web hit)

PCDH15 Y1159Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 V1178Iinsufficiently evaluated not reviewed, f=0.016unknown
PCDH15 Y1181Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

(1 web hit)

PCDH15 V1183Iinsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS00253-DNA_B02_200_37
PCDH15 Y1186Xinsufficiently evaluated pathogenicrecessive

This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive.

PCDH15 V1190Iinsufficiently evaluated not reviewedunknown
PCDH15 Y1193Xinsufficiently evaluated noneunknown
PCDH15 E1194Dinsufficiently evaluated not reviewedunknown
PCDH15 E1228Dinsufficiently evaluated not reviewedunknown
PCDH15 E1243Dinsufficiently evaluated not reviewedunknown
PCDH15 E1265Dinsufficiently evaluated not reviewed, f=0.008unknown
PCDH15 E1270Dinsufficiently evaluated not reviewed, f=0.015unknown
PCDH15 Q1271Kinsufficiently evaluated noneunknown
PCDH15 E1277Dinsufficiently evaluated not reviewedunknown
PCDH15 Q1305Kinsufficiently evaluated noneunknown
PCDH15 Q1320Kinsufficiently evaluated noneunknown
PCDH15 Q1342Kinsufficiently evaluated pathogenic, f=0.008recessive

This variant was found as a compound heterozygote (together with T1867del) in a Caucasian individual with Usher syndrome type I.

(4 web hits)

var-GS19669-1100-36-ASM
PCDH15 Q1347Kinsufficiently evaluated none, f=0.008unknown
PCDH15 Q1354Kinsufficiently evaluated noneunknown
PCDH15 A1445Ginsufficiently evaluated not reviewed, f=0.009unknown var-GS19670-1100-36-ASM
PCDH15 A1562Einsufficiently evaluated noneunknown
PCDH15 S1569Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
PCDH15 A1591Einsufficiently evaluated noneunknown
PCDH15 A1608Einsufficiently evaluated noneunknown
PCDH15 A1611Einsufficiently evaluated noneunknown
PCDH15 R1611Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
PCDH15 E1618Ainsufficiently evaluated noneunknown

(1 web hit)

PCDH15 A1628Einsufficiently evaluated noneunknown
PCDH15 A1631Einsufficiently evaluated noneunknown
PCDH15 A1633Einsufficiently evaluated noneunknown
PCDH15 A1638Einsufficiently evaluated none, f=0.000unknown
PCDH15 Q1656Pinsufficiently evaluated noneunknown
PCDH15 Q1661Pinsufficiently evaluated noneunknown
PCDH15 S1685Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
PCDH15 P1718Sinsufficiently evaluated noneunknown
PCDH15 G1746Sinsufficiently evaluated not reviewedunknown
PCDH15 P1747Sinsufficiently evaluated noneunknown
PCDH15 PAP1760Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
PCDH15 P1764Sinsufficiently evaluated noneunknown
PCDH15 P1767Sinsufficiently evaluated noneunknown
PCDH15 AP1770Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
PCDH15 P1784Sinsufficiently evaluated noneunknown
PCDH15 P1787Sinsufficiently evaluated noneunknown
PCDH15 P1789Sinsufficiently evaluated noneunknown
PCDH15 P1794Sinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
PCDH15 T1799Minsufficiently evaluated not reviewedunknown
PCDH15 T1828Minsufficiently evaluated not reviewedunknown
PCDH15 I1834Vinsufficiently evaluated noneunknown
PCDH15 T1845Minsufficiently evaluated not reviewedunknown
PCDH15 T1848Minsufficiently evaluated not reviewedunknown
PCDH15 I1863Vinsufficiently evaluated noneunknown
PCDH15 T1865Minsufficiently evaluated not reviewedunknown
PCDH15 T1868Minsufficiently evaluated not reviewed, f=0.008unknown
PCDH15 T1869Delinsufficiently evaluated not reviewed, f=0.062unknown var-GS19025-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
PCDH15 T1870Minsufficiently evaluated not reviewedunknown
PCDH15 T1875Minsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_B02_200_37
PCDH15 I1880Vinsufficiently evaluated noneunknown
PCDH15 I1883Vinsufficiently evaluated noneunknown
PCDH15 I1900Vinsufficiently evaluated noneunknown
PCDH15 I1903Vinsufficiently evaluated none, f=0.078unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
PCDH15 I1905Vinsufficiently evaluated noneunknown
PCDH15 I1910Vinsufficiently evaluated none, f=0.044unknown
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Total results: 115

Gene search

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