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Items: 1 to 100 of 2607

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr9:98241300
GRCh38:
Chr9:95479018
PTCH1W248fs, W333fs, W398fs, W399fsGorlin syndromePathogenic
(Oct 1, 2021)
criteria provided, single submitterVCV001299507
2.
GRCh37:
Chr9:98240431-98240432
GRCh38:
Chr9:95478149-95478150
PTCH1K267fs, K352fs, K417fs, K418fsnot providedPathogenic
(Aug 1, 2021)
criteria provided, single submitterVCV001299150
3.
GRCh37:
Chr9:98240669
GRCh38:
Chr9:95478387
PTCH1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001298156
4.
GRCh37:
Chr9:98220846
GRCh38:
Chr9:95458564
PTCH1not providedBenign
(Dec 21, 2018)
criteria provided, single submitterVCV001296355
5.
GRCh37:
Chr9:98226167
GRCh38:
Chr9:95463885
LOC100507346, PTCH1not providedBenign
(Dec 21, 2018)
criteria provided, single submitterVCV001296341
6.
GRCh37:
Chr9:98216054
GRCh38:
Chr9:95453772
PTCH1not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001296125
7.
GRCh37:
Chr9:98270187-98270188
GRCh38:
Chr9:95507905-95507906
PTCH1not providedBenign
(Aug 20, 2019)
criteria provided, single submitterVCV001295720
8.
GRCh37:
Chr9:98270171
GRCh38:
Chr9:95507889
PTCH1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001295452
9.
GRCh37:
Chr9:98209156
GRCh38:
Chr9:95446874
PTCH1not providedBenign
(Jul 20, 2018)
criteria provided, single submitterVCV001294301
10.
GRCh37:
Chr9:98270321-98270328
GRCh38:
Chr9:95508039-95508046
PTCH1not providedBenign
(Aug 19, 2019)
criteria provided, single submitterVCV001292751
11.
GRCh37:
Chr9:98232224
GRCh38:
Chr9:95469942
LOC100507346, PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001290901
12.
GRCh37:
Chr9:98270317-98270320
GRCh38:
Chr9:95508035-95508038
PTCH1not providedBenign
(Aug 13, 2019)
criteria provided, single submitterVCV001289777
13.
GRCh37:
Chr9:98270523-98270524
GRCh38:
Chr9:95508241-95508242
PTCH1R41fsGorlin syndromeLikely pathogenic
(Oct 1, 2020)
criteria provided, single submitterVCV001285597
14.
GRCh37:
Chr9:98220351
GRCh38:
Chr9:95458069
PTCH1C1037R, C1038R, C887R, C972R, C986RGorlin syndromeUncertain significance
(Nov 16, 2020)
criteria provided, single submitterVCV001285458
15.
GRCh37:
Chr9:98242177
GRCh38:
Chr9:95479895
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001283113
16.
GRCh37:
Chr9:98270647-98270648
GRCh38:
Chr9:95508365-95508366
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001280666
17.
GRCh37:
Chr9:98239190
GRCh38:
Chr9:95476908
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001280181
18.
GRCh37:
Chr9:98278413
GRCh38:
Chr9:95516131
PTCH1not providedBenign
(Dec 1, 2020)
criteria provided, single submitterVCV001279574
19.
GRCh37:
Chr9:98218474-98218475
GRCh38:
Chr9:95456192-95456193
PTCH1not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001276367
20.
GRCh37:
Chr9:98268618
GRCh38:
Chr9:95506336
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001275888
21.
GRCh37:
Chr9:98278644
GRCh38:
Chr9:95516362
PTCH1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001275089
22.
GRCh37:
Chr9:98224487
GRCh38:
Chr9:95462205
PTCH1not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001268442
23.
GRCh37:
Chr9:98270187-98270188
GRCh38:
Chr9:95507905-95507906
PTCH1not providedBenign
(Sep 2, 2019)
criteria provided, single submitterVCV001268185
24.
GRCh37:
Chr9:98220619
GRCh38:
Chr9:95458337
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001264758
25.
GRCh37:
Chr9:98270168
GRCh38:
Chr9:95507886
PTCH1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001263268
26.
GRCh37:
Chr9:98211550
GRCh38:
Chr9:95449268
PTCH1P1051L, P1136L, P1150L, P1201L, P1202Lnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001260642
27.
GRCh37:
Chr9:98209958
GRCh38:
Chr9:95447676
PTCH1not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001260548
28.
GRCh37:
Chr9:98270323-98270324
GRCh38:
Chr9:95508041-95508042
PTCH1not providedBenign
(Aug 16, 2019)
criteria provided, single submitterVCV001258522
29.
GRCh37:
Chr9:98231835
GRCh38:
Chr9:95469553
LOC100507346, PTCH1not providedLikely benign
(Mar 3, 2021)
criteria provided, single submitterVCV001254685
30.
GRCh37:
Chr9:98232535
GRCh38:
Chr9:95470253
PTCH1not providedLikely benign
(Feb 10, 2021)
criteria provided, single submitterVCV001254537
31.
GRCh37:
Chr9:98222134
GRCh38:
Chr9:95459852
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001252939
32.
GRCh37:
Chr9:98270342
GRCh38:
Chr9:95508060
PTCH1not providedBenign
(Aug 15, 2019)
criteria provided, single submitterVCV001249360
33.
GRCh37:
Chr9:98242925
GRCh38:
Chr9:95480643
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001248857
34.
GRCh37:
Chr9:98230925
GRCh38:
Chr9:95468643
LOC100507346, PTCH1not providedBenign
(Aug 6, 2019)
criteria provided, single submitterVCV001246997
35.
GRCh37:
Chr9:98248238
GRCh38:
Chr9:95485956
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001244302
36.
GRCh37:
Chr9:98224360
GRCh38:
Chr9:95462078
PTCH1not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001238177
37.
GRCh37:
Chr9:98215968
GRCh38:
Chr9:95453686
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001235497
38.
GRCh37:
Chr9:98242144
GRCh38:
Chr9:95479862
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001220935
39.
GRCh37:
Chr9:98223856
GRCh38:
Chr9:95461574
PTCH1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001220747
40.
GRCh37:
Chr9:98268396
GRCh38:
Chr9:95506114
PTCH1not providedLikely benign
(Aug 14, 2018)
criteria provided, single submitterVCV001220030
41.
GRCh37:
Chr9:98229183
GRCh38:
Chr9:95466901
LOC100507346, PTCH1not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitterVCV001219912
42.
GRCh37:
Chr9:98211988
GRCh38:
Chr9:95449706
PTCH1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001217912
43.
GRCh37:
Chr9:98270324
GRCh38:
Chr9:95508042
PTCH1not providedLikely benign
(Aug 15, 2019)
criteria provided, single submitterVCV001217598
44.
GRCh37:
Chr9:98241070
GRCh38:
Chr9:95478788
PTCH1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001216089
45.
GRCh37:
Chr9:98220859
GRCh38:
Chr9:95458577
PTCH1not providedLikely benign
(Dec 24, 2018)
criteria provided, single submitterVCV001215990
46.
GRCh37:
Chr9:98224283
GRCh38:
Chr9:95462001
PTCH1Holoprosencephaly 7Uncertain significance
(Sep 23, 2020)
criteria provided, single submitterVCV001213700
47.
GRCh37:
Chr9:98232410
GRCh38:
Chr9:95470128
PTCH1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001212863
48.
GRCh37:
Chr9:98218242
GRCh38:
Chr9:95455960
PTCH1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001212760
49.
GRCh37:
Chr9:98209899
GRCh38:
Chr9:95447617
PTCH1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001208347
50.
GRCh37:
Chr9:98229155
GRCh38:
Chr9:95466873
LOC100507346, PTCH1not providedLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV001208228
51.
GRCh37:
Chr9:98229366
GRCh38:
Chr9:95467084
LOC100507346, PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001208125
52.
GRCh37:
Chr9:98223883
GRCh38:
Chr9:95461601
PTCH1not providedLikely benign
(Oct 9, 2018)
criteria provided, single submitterVCV001207878
53.
GRCh37:
Chr9:98229264
GRCh38:
Chr9:95466982
LOC100507346, PTCH1not providedLikely benign
(Jun 22, 2018)
criteria provided, single submitterVCV001206864
54.
GRCh37:
Chr9:98270910
GRCh38:
Chr9:95508628
PTCH1not providedLikely benign
(Jan 16, 2019)
criteria provided, single submitterVCV001206820
55.
GRCh37:
Chr9:98279530
GRCh38:
Chr9:95517248
PTCH1not providedLikely benign
(Dec 17, 2018)
criteria provided, single submitterVCV001205625
56.
GRCh37:
Chr9:98208948
GRCh38:
Chr9:95446666
PTCH1not providedLikely benign
(Jan 12, 2020)
criteria provided, single submitterVCV001205169
57.
GRCh37:
Chr9:98212354
GRCh38:
Chr9:95450072
PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001201048
58.
GRCh37:
Chr9:98211720
GRCh38:
Chr9:95449438
PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001199638
59.
GRCh37:
Chr9:98242560
GRCh38:
Chr9:95480278
PTCH1not providedLikely benign
(Jul 8, 2018)
criteria provided, single submitterVCV001198933
60.
GRCh37:
Chr9:98221700
GRCh38:
Chr9:95459418
PTCH1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001198569
61.
GRCh37:
Chr9:98238687
GRCh38:
Chr9:95476405
PTCH1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001197553
62.
GRCh37:
Chr9:98270984
GRCh38:
Chr9:95508702
PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001196204
63.
GRCh37:
Chr9:98208590
GRCh38:
Chr9:95446308
PTCH1not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV001194498
64.
GRCh37:
Chr9:98211761-98211762
GRCh38:
Chr9:95449479-95449480
PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001193250
65.
GRCh37:
Chr9:98229290
GRCh38:
Chr9:95467008
LOC100507346, PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001193155
66.
GRCh37:
Chr9:98244548
GRCh38:
Chr9:95482266
PTCH1not providedLikely benign
(Feb 27, 2019)
criteria provided, single submitterVCV001191558
67.
GRCh37:
Chr9:98270325-98270328
GRCh38:
Chr9:95508043-95508046
PTCH1not providedLikely benign
(Aug 15, 2019)
criteria provided, single submitterVCV001190970
68.
GRCh37:
Chr9:98226267
GRCh38:
Chr9:95463985
LOC100507346, PTCH1not providedLikely benign
(Jul 11, 2018)
criteria provided, single submitterVCV001189439
69.
GRCh37:
Chr9:98279234
GRCh38:
Chr9:95516952
PTCH1not providedLikely benign
(Aug 14, 2018)
criteria provided, single submitterVCV001186732
70.
GRCh37:
Chr9:98279390
GRCh38:
Chr9:95517108
PTCH1not providedLikely benign
(Aug 14, 2018)
criteria provided, single submitterVCV001186538
71.
GRCh37:
Chr9:98248100
GRCh38:
Chr9:95485818
PTCH1A150fs, A151fs, A85fsnot providedPathogenic
(May 29, 2019)
criteria provided, single submitterVCV001185793
72.
GRCh37:
Chr9:98270650-98270651
GRCh38:
Chr9:95508368-95508369
PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001183751
73.
GRCh37:
Chr9:98268474
GRCh38:
Chr9:95506192
PTCH1not providedLikely benign
(Jul 21, 2018)
criteria provided, single submitterVCV001182368
74.
GRCh37:
Chr9:98241952
GRCh38:
Chr9:95479670
PTCH1not providedLikely benign
(May 25, 2019)
criteria provided, single submitterVCV001181696
75.
GRCh37:
Chr9:98212085
GRCh38:
Chr9:95449803
PTCH1not providedLikely benign
(Sep 19, 2018)
criteria provided, single submitterVCV001178046
76.
GRCh37:
Chr9:98231132-98231170
GRCh38:
Chr9:95468850-95468888
PTCH1, LOC100507346not providedUncertain significance
(Jun 1, 2021)
criteria provided, single submitterVCV001176574
77.
GRCh37:
Chr9:98224136
GRCh38:
Chr9:95461854
PTCH1not providedPathogenic
(Mar 1, 2021)
criteria provided, single submitterVCV001176573
78.
GRCh37:
Chr9:98239147
GRCh38:
Chr9:95476865
PTCH1Gorlin syndromeBenign
(Feb 29, 2020)
criteria provided, single submitterVCV001168049
79.
GRCh37:
Chr9:98238358
GRCh38:
Chr9:95476076
PTCH1Gorlin syndromeBenign
(Jan 19, 2020)
criteria provided, single submitterVCV001167383
80.
GRCh37:
Chr9:98209323
GRCh38:
Chr9:95447041
PTCH1Gorlin syndromeLikely benign
(Dec 25, 2019)
criteria provided, single submitterVCV001161413
81.
GRCh37:
Chr9:98248071
GRCh38:
Chr9:95485789
PTCH1Gorlin syndromeLikely benign
(Mar 21, 2019)
criteria provided, single submitterVCV001160830
82.
GRCh37:
Chr9:98270476
GRCh38:
Chr9:95508194
PTCH1Gorlin syndromeLikely benign
(Oct 8, 2020)
criteria provided, single submitterVCV001160750
83.
GRCh37:
Chr9:98248164
GRCh38:
Chr9:95485882
PTCH1Gorlin syndromeLikely benign
(Nov 26, 2020)
criteria provided, single submitterVCV001160707
84.
GRCh37:
Chr9:98270536
GRCh38:
Chr9:95508254
PTCH1Gorlin syndromeLikely benign
(Jan 23, 2020)
criteria provided, single submitterVCV001160275
85.
GRCh37:
Chr9:98240451
GRCh38:
Chr9:95478169
PTCH1Gorlin syndromeLikely benign
(Mar 17, 2020)
criteria provided, single submitterVCV001160113
86.
GRCh37:
Chr9:98270530
GRCh38:
Chr9:95508248
PTCH1Gorlin syndromeLikely benign
(Oct 26, 2020)
criteria provided, single submitterVCV001158818
87.
GRCh37:
Chr9:98211549
GRCh38:
Chr9:95449267
PTCH1Gorlin syndromeLikely benign
(Jun 16, 2020)
criteria provided, single submitterVCV001158670
88.
GRCh37:
Chr9:98239925
GRCh38:
Chr9:95477643
PTCH1Gorlin syndromeLikely benign
(May 22, 2020)
criteria provided, single submitterVCV001158604
89.
GRCh37:
Chr9:98239992
GRCh38:
Chr9:95477710
PTCH1Gorlin syndromeLikely benign
(Mar 2, 2019)
criteria provided, single submitterVCV001157562
90.
GRCh37:
Chr9:98242786
GRCh38:
Chr9:95480504
PTCH1Gorlin syndromeLikely benign
(Jul 5, 2019)
criteria provided, single submitterVCV001156934
91.
GRCh37:
Chr9:98224288
GRCh38:
Chr9:95462006
PTCH1Gorlin syndromeLikely benign
(Jun 21, 2020)
criteria provided, single submitterVCV001156778
92.
GRCh37:
Chr9:98209656
GRCh38:
Chr9:95447374
PTCH1Gorlin syndromeLikely benign
(Mar 8, 2020)
criteria provided, single submitterVCV001156763
93.
GRCh37:
Chr9:98229612
GRCh38:
Chr9:95467330
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Mar 4, 2019)
criteria provided, single submitterVCV001156593
94.
GRCh37:
Chr9:98224156
GRCh38:
Chr9:95461874
PTCH1Gorlin syndromeLikely benign
(Aug 10, 2019)
criteria provided, single submitterVCV001156507
95.
GRCh37:
Chr9:98209195
GRCh38:
Chr9:95446913
PTCH1Gorlin syndromeLikely benign
(Jul 22, 2020)
criteria provided, single submitterVCV001156436
96.
GRCh37:
Chr9:98220463
GRCh38:
Chr9:95458181
PTCH1Gorlin syndromeLikely benign
(Jun 9, 2020)
criteria provided, single submitterVCV001156153
97.
GRCh37:
Chr9:98268681
GRCh38:
Chr9:95506399
PTCH1Gorlin syndromeLikely benign
(Nov 7, 2019)
criteria provided, single submitterVCV001156081
98.
GRCh37:
Chr9:98240327
GRCh38:
Chr9:95478045
PTCH1Gorlin syndromeLikely benign
(Jan 29, 2019)
criteria provided, single submitterVCV001155992
99.
GRCh37:
Chr9:98209542
GRCh38:
Chr9:95447260
PTCH1Gorlin syndromeLikely benign
(Aug 3, 2020)
criteria provided, single submitterVCV001155618
100.
GRCh37:
Chr9:98229444
GRCh38:
Chr9:95467162
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Feb 4, 2020)
criteria provided, single submitterVCV001155617
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