GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
PTCH1 D55Hinsufficiently evaluated not reviewedunknown
PTCH1 Q210Xinsufficiently evaluated pathogenicunknown
PTCH1 A393Tinsufficiently evaluated pathogenicunknown

(2 web hits)

PTCH1 R638Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19026-1100-36-ASM
PTCH1 L720Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_B03 from PGP sample 14427241
PTCH1 H721Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_B03 from PGP sample 14427241
PTCH1 T728Muncertain benign, f=0.008undefined

Reported to cause holoprosencephaly, which causes facial and brain malformations. Submitted to ClinVar by OMIM (, based on Ming et al 2002 (PMID: 11941477) and Rahimov et al 2006 (PMID: 17096318). Proposed inheritance pattern unclear – possibly dominant with variable penetrance. However, this pathogenic effect is strongly contradicted by ExAC allele frequency data which reports the variant has an allele frequency of 2.2% in African ancestry.

(3 web hits)

PTCH1 S827Ginsufficiently evaluated pathogenic, f=0.008unknown

(8 web hits)

PTCH1 D894Ninsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
PTCH1 V908Ginsufficiently evaluated pathogenicunknown

(1 web hit)

PTCH1 T1044Sinsufficiently evaluated noneunknown
PTCH1 T1052Minsufficiently evaluated pathogenic, f=0.001unknown

(1 web hit)

PTCH1 T1129Sinsufficiently evaluated noneunknown
PTCH1 P1131Rinsufficiently evaluated not reviewedunknown
PTCH1 P1131Linsufficiently evaluated noneunknown
PTCH1 G1163Sinsufficiently evaluated not reviewedother CGI sample GS01669-DNA_B05 from PGP sample 86486261
PTCH1 P1164Linsufficiently evaluated noneunknown

(4 web hits)

PTCH1 T1194Sinsufficiently evaluated noneunknown
PTCH1 T1195Sinsufficiently evaluated not reviewed, f=0.041unknown

94 chromosomes studied, and found 4% het for this variant. Concluded that it is a benign polymorphism as of 9/2003.

(10 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS000005532
CGI sample GS00253-DNA_B02_200_37
PTCH1 P1216Rinsufficiently evaluated not reviewedunknown
PTCH1 P1216Linsufficiently evaluated noneunknown
PTCH1 P1249Linsufficiently evaluated noneunknown
PTCH1 P1281Rinsufficiently evaluated not reviewedunknown
PTCH1 P1281Linsufficiently evaluated noneunknown
PTCH1 P1282Rinsufficiently evaluated not reviewedunknown
PTCH1 P1282Linsufficiently evaluated none, f=0.008unknown

(2 web hits)

CGI sample GS00253-DNA_H01_200_37
PTCH1 P1314Linsufficiently evaluated noneunknown
PTCH1 P1315Luncertain benign, f=0.296unknown

Common polymorphism, presumed benign.

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM (hom)
PTCH1 G1343Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
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Total results: 29

Gene search

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