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Items: 1 to 100 of 446

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr9:98240431-98240432
GRCh38:
Chr9:95478149-95478150
PTCH1K267fs, K352fs, K417fs, K418fsnot providedPathogenic
(Aug 1, 2021)
criteria provided, single submitterVCV001299150
2.
GRCh37:
Chr9:98226167
GRCh38:
Chr9:95463885
LOC100507346, PTCH1not providedBenign
(Dec 21, 2018)
criteria provided, single submitterVCV001296341
3.
GRCh37:
Chr9:98232224
GRCh38:
Chr9:95469942
LOC100507346, PTCH1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001290901
4.
GRCh37:
Chr9:98231835
GRCh38:
Chr9:95469553
LOC100507346, PTCH1not providedLikely benign
(Mar 3, 2021)
criteria provided, single submitterVCV001254685
5.
GRCh37:
Chr9:98230925
GRCh38:
Chr9:95468643
LOC100507346, PTCH1not providedBenign
(Aug 6, 2019)
criteria provided, single submitterVCV001246997
6.
GRCh37:
Chr9:98229183
GRCh38:
Chr9:95466901
LOC100507346, PTCH1not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitterVCV001219912
7.
GRCh37:
Chr9:98224283
GRCh38:
Chr9:95462001
PTCH1Holoprosencephaly 7Uncertain significance
(Sep 23, 2020)
criteria provided, single submitterVCV001213700
8.
GRCh37:
Chr9:98229155
GRCh38:
Chr9:95466873
LOC100507346, PTCH1not providedLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV001208228
9.
GRCh37:
Chr9:98229366
GRCh38:
Chr9:95467084
LOC100507346, PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001208125
10.
GRCh37:
Chr9:98229264
GRCh38:
Chr9:95466982
LOC100507346, PTCH1not providedLikely benign
(Jun 22, 2018)
criteria provided, single submitterVCV001206864
11.
GRCh37:
Chr9:98229290
GRCh38:
Chr9:95467008
LOC100507346, PTCH1not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitterVCV001193155
12.
GRCh37:
Chr9:98226267
GRCh38:
Chr9:95463985
LOC100507346, PTCH1not providedLikely benign
(Jul 11, 2018)
criteria provided, single submitterVCV001189439
13.
GRCh37:
Chr9:98231132-98231170
GRCh38:
Chr9:95468850-95468888
PTCH1, LOC100507346not providedUncertain significance
(Jun 1, 2021)
criteria provided, single submitterVCV001176574
14.
GRCh37:
Chr9:98224136
GRCh38:
Chr9:95461854
PTCH1not providedPathogenic
(Mar 1, 2021)
criteria provided, single submitterVCV001176573
15.
GRCh37:
Chr9:98229612
GRCh38:
Chr9:95467330
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Mar 4, 2019)
criteria provided, single submitterVCV001156593
16.
GRCh37:
Chr9:98229444
GRCh38:
Chr9:95467162
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Feb 4, 2020)
criteria provided, single submitterVCV001155617
17.
GRCh37:
Chr9:98231165
GRCh38:
Chr9:95468883
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Apr 28, 2019)
criteria provided, single submitterVCV001155571
18.
GRCh37:
Chr9:98231255
GRCh38:
Chr9:95468973
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Sep 13, 2019)
criteria provided, single submitterVCV001154440
19.
GRCh37:
Chr9:98232223
GRCh38:
Chr9:95469941
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jun 28, 2020)
criteria provided, single submitterVCV001153101
20.
GRCh37:
Chr9:98229714
GRCh38:
Chr9:95467432
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Oct 19, 2019)
criteria provided, single submitterVCV001152398
21.
GRCh37:
Chr9:98231282
GRCh38:
Chr9:95469000
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Sep 10, 2020)
criteria provided, single submitterVCV001151615
22.
GRCh37:
Chr9:98231252
GRCh38:
Chr9:95468970
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001150678
23.
GRCh37:
Chr9:98231390
GRCh38:
Chr9:95469108
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jun 21, 2020)
criteria provided, single submitterVCV001150675
24.
GRCh37:
Chr9:98229621
GRCh38:
Chr9:95467339
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Sep 22, 2020)
criteria provided, single submitterVCV001149682
25.
GRCh37:
Chr9:98231216
GRCh38:
Chr9:95468934
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Aug 13, 2019)
criteria provided, single submitterVCV001148639
26.
GRCh37:
Chr9:98229714
GRCh38:
Chr9:95467432
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jan 31, 2020)
criteria provided, single submitterVCV001145556
27.
GRCh37:
Chr9:98229495
GRCh38:
Chr9:95467213
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jun 12, 2019)
criteria provided, single submitterVCV001142590
28.
GRCh37:
Chr9:98229471
GRCh38:
Chr9:95467189
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jun 3, 2020)
criteria provided, single submitterVCV001136707
29.
GRCh37:
Chr9:98229567
GRCh38:
Chr9:95467285
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Dec 6, 2019)
criteria provided, single submitterVCV001133486
30.
GRCh37:
Chr9:98231024
GRCh38:
Chr9:95468742
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Sep 11, 2020)
criteria provided, single submitterVCV001131879
31.
GRCh37:
Chr9:98231444
GRCh38:
Chr9:95469162
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Sep 20, 2019)
criteria provided, single submitterVCV001128619
32.
GRCh37:
Chr9:98232218
GRCh38:
Chr9:95469936
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Apr 6, 2020)
criteria provided, single submitterVCV001125577
33.
GRCh37:
Chr9:98232220
GRCh38:
Chr9:95469938
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Aug 9, 2020)
criteria provided, single submitterVCV001122547
34.
GRCh37:
Chr9:98232221
GRCh38:
Chr9:95469939
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV001118971
35.
GRCh37:
Chr9:98231291
GRCh38:
Chr9:95469009
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Sep 30, 2020)
criteria provided, single submitterVCV001117063
36.
GRCh37:
Chr9:98232184
GRCh38:
Chr9:95469902
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jan 30, 2020)
criteria provided, single submitterVCV001104824
37.
GRCh37:
Chr9:98232169
GRCh38:
Chr9:95469887
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Mar 7, 2019)
criteria provided, single submitterVCV001100764
38.
GRCh37:
Chr9:98229636
GRCh38:
Chr9:95467354
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jul 11, 2019)
criteria provided, single submitterVCV001100103
39.
GRCh37:
Chr9:98231050
GRCh38:
Chr9:95468768
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Aug 14, 2019)
criteria provided, single submitterVCV001095698
40.
GRCh37:
Chr9:98231393
GRCh38:
Chr9:95469111
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jan 21, 2020)
criteria provided, single submitterVCV001094995
41.
GRCh37:
Chr9:98231090
GRCh38:
Chr9:95468808
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Oct 11, 2020)
criteria provided, single submitterVCV001094072
42.
GRCh37:
Chr9:98231114
GRCh38:
Chr9:95468832
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jun 28, 2020)
criteria provided, single submitterVCV001093015
43.
GRCh37:
Chr9:98229715
GRCh38:
Chr9:95467433
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Oct 19, 2019)
criteria provided, single submitterVCV001090865
44.
GRCh37:
Chr9:98231351
GRCh38:
Chr9:95469069
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Sep 8, 2020)
criteria provided, single submitterVCV001083717
45.
GRCh37:
Chr9:98229423
GRCh38:
Chr9:95467141
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Dec 2, 2020)
criteria provided, single submitterVCV001078328
46.
GRCh37:
Chr9:98231158
GRCh38:
Chr9:95468876
PTCH1, LOC100507346Gorlin syndromeLikely benign
(May 6, 2020)
criteria provided, single submitterVCV001077808
47.
GRCh37:
Chr9:98229672
GRCh38:
Chr9:95467390
PTCH1, LOC100507346Gorlin syndromeLikely benign
(Jul 8, 2020)
criteria provided, single submitterVCV001077505
48.
GRCh37:
Chr9:98231139
GRCh38:
Chr9:95468857
PTCH1, LOC100507346F564fs, F649fs, F663fs, F714fs, F715fsGorlin syndromePathogenic
(Aug 14, 2020)
criteria provided, single submitterVCV001076315
49.
GRCh37:
Chr9:98231080-98231084
GRCh38:
Chr9:95468798-95468802
PTCH1, LOC100507346S583fs, S668fs, S682fs, S733fs, S734fsGorlin syndromePathogenic
(Apr 14, 2020)
criteria provided, single submitterVCV001076107
50.
GRCh37:
Chr9:98231110-98231111
GRCh38:
Chr9:95468828-95468829
PTCH1, LOC100507346P574fs, P659fs, P673fs, P724fs, P725fsGorlin syndromePathogenic
(Jun 15, 2020)
criteria provided, single submitterVCV001075463
51.
GRCh37:
Chr9:98229588
GRCh38:
Chr9:95467306
PTCH1, LOC100507346F639fs, F724fs, F738fs, F789fs, F790fsGorlin syndromePathogenic
(Sep 16, 2020)
criteria provided, single submitterVCV001075361
52.
GRCh37:
Chr9:98231176
GRCh38:
Chr9:95468894
PTCH1, LOC100507346E552*, E637*, E651*, E702*, E703*Gorlin syndromePathogenic
(Aug 20, 2020)
criteria provided, single submitterVCV001074759
53.
GRCh37:
Chr9:98229481
GRCh38:
Chr9:95467199
PTCH1, LOC100507346F675fs, F760fs, F774fs, F825fs, F826fsGorlin syndromePathogenic
(Jun 2, 2020)
criteria provided, single submitterVCV001074462
54.
GRCh37:
Chr9:98229465
GRCh38:
Chr9:95467183
PTCH1, LOC100507346Y680*, Y765*, Y779*, Y830*, Y831*Gorlin syndromePathogenic
(Oct 10, 2020)
criteria provided, single submitterVCV001073589
55.
GRCh37:
Chr9:98231104-98231105
GRCh38:
Chr9:95468822-95468823
PTCH1, LOC100507346C576fs, C661fs, C675fs, C726fs, C727fsGorlin syndromePathogenic
(Sep 9, 2020)
criteria provided, single submitterVCV001072731
56.
GRCh37:
Chr9:98229625-98229626
GRCh38:
Chr9:95467343-95467344
PTCH1, LOC100507346T627fs, T712fs, T726fs, T777fs, T778fsGorlin syndromePathogenic
(Jul 27, 2020)
criteria provided, single submitterVCV001072729
57.
GRCh37:
Chr9:98231078-98231079
GRCh38:
Chr9:95468796-95468797
PTCH1, LOC100507346F584fs, F669fs, F683fs, F734fs, F735fsGorlin syndromePathogenic
(Jul 13, 2020)
criteria provided, single submitterVCV001072438
58.
GRCh37:
Chr9:98229576
GRCh38:
Chr9:95467294
PTCH1, LOC100507346Q643fs, Q728fs, Q742fs, Q793fs, Q794fsGorlin syndromePathogenic
(May 23, 2020)
criteria provided, single submitterVCV001072168
59.
PTCH1Gorlin syndromePathogenic
(Jun 18, 2020)
criteria provided, single submitterVCV001071965
60.
GRCh37:
Chr9:98229416-98229417
GRCh38:
Chr9:95467134-95467135
PTCH1, LOC100507346F697fs, F782fs, F796fs, F847fs, F848fsGorlin syndromePathogenic
(May 22, 2015)
criteria provided, single submitterVCV001071873
61.
GRCh37:
Chr9:98229588-98229589
GRCh38:
Chr9:95467306-95467307
LOC100507346, PTCH1F639fs, F724fs, F738fs, F789fs, F790fsGorlin syndromePathogenic
(May 13, 2020)
criteria provided, single submitterVCV001071471
62.
GRCh37:
Chr9:98229635-98229636
GRCh38:
Chr9:95467353-95467354
PTCH1, LOC100507346L624fs, L709fs, L723fs, L774fs, L775fsGorlin syndromePathogenic
(Jun 10, 2020)
criteria provided, single submitterVCV001071127
63.
GRCh37:
Chr9:98232093
GRCh38:
Chr9:95469811
PTCH1, LOC100507346Gorlin syndromePathogenic
(Sep 10, 2020)
criteria provided, single submitterVCV001070827
64.
GRCh37:
Chr9:98229662
GRCh38:
Chr9:95467380
PTCH1, LOC100507346Y615fs, Y700fs, Y714fs, Y765fs, Y766fsGorlin syndromePathogenic
(Jun 29, 2020)
criteria provided, single submitterVCV001070553
65.
GRCh37:
Chr9:98229474
GRCh38:
Chr9:95467192
PTCH1, LOC100507346N677fs, N762fs, N776fs, N827fs, N828fsGorlin syndromePathogenic
(Jun 24, 2020)
criteria provided, single submitterVCV001070252
66.
PTCH1Gorlin syndromeLikely pathogenic
(May 17, 2018)
criteria provided, single submitterVCV001067836
67.
PTCH1Gorlin syndromeLikely pathogenic
(Mar 25, 2019)
criteria provided, single submitterVCV001067835
68.
GRCh37:
Chr9:98229473
GRCh38:
Chr9:95467191
PTCH1, LOC100507346V678L, V763L, V777L, V828L, V829LGorlin syndromeUncertain significance
(Jun 16, 2020)
criteria provided, single submitterVCV001064400
69.
GRCh37:
Chr9:98229542
GRCh38:
Chr9:95467260
PTCH1, LOC100507346V655I, V740I, V754I, V805I, V806IGorlin syndromeUncertain significance
(Sep 24, 2020)
criteria provided, single submitterVCV001064186
70.
GRCh37:
Chr9:98229418
GRCh38:
Chr9:95467136
PTCH1, LOC100507346Y696C, Y781C, Y795C, Y846C, Y847CGorlin syndromeUncertain significance
(Sep 24, 2020)
criteria provided, single submitterVCV001059612
71.
GRCh37:
Chr9:98229576
GRCh38:
Chr9:95467294
PTCH1, LOC100507346Gorlin syndromeUncertain significance
(Feb 13, 2020)
criteria provided, single submitterVCV001058952
72.
GRCh37:
Chr9:98229410
GRCh38:
Chr9:95467128
PTCH1, LOC100507346D699H, D784H, D798H, D849H, D850HGorlin syndromeUncertain significance
(Jul 27, 2020)
criteria provided, single submitterVCV001055344
73.
GRCh37:
Chr9:98231431
GRCh38:
Chr9:95469149
PTCH1, LOC100507346C467R, C552R, C566R, C617R, C618RGorlin syndromeUncertain significance
(Feb 27, 2020)
criteria provided, single submitterVCV001052398
74.
GRCh37:
Chr9:98231200
GRCh38:
Chr9:95468918
PTCH1, LOC100507346D544N, D629N, D643N, D694N, D695NGorlin syndromeUncertain significance
(Feb 2, 2020)
criteria provided, single submitterVCV001051598
75.
GRCh37:
Chr9:98232200
GRCh38:
Chr9:95469918
PTCH1, LOC100507346V430A, V529A, V515A, V581A, V580AGorlin syndromeUncertain significance
(Sep 16, 2020)
criteria provided, single submitterVCV001046185
76.
GRCh37:
Chr9:98231381
GRCh38:
Chr9:95469099
PTCH1, LOC100507346H483Q, H633Q, H634Q, H568Q, H582QGorlin syndromeUncertain significance
(Aug 27, 2020)
criteria provided, single submitterVCV001043755
77.
GRCh37:
Chr9:98231347
GRCh38:
Chr9:95469065
LOC100507346, PTCH1S594G, S495G, S580G, S645G, S646GGorlin syndromeUncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV001041244
78.
GRCh37:
Chr9:98231035
GRCh38:
Chr9:95468753
PTCH1, LOC100507346K684E, K698E, K750E, K749E, K599EGorlin syndromeUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV001040803
79.
GRCh37:
Chr9:98232183
GRCh38:
Chr9:95469901
PTCH1, LOC100507346M436V, M587V, M521V, M535V, M586VGorlin syndromeUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV001040753
80.
GRCh37:
Chr9:98232180
GRCh38:
Chr9:95469898
PTCH1, LOC100507346V437I, V536I, V587I, V588I, V522IGorlin syndromeUncertain significance
(May 25, 2020)
criteria provided, single submitterVCV001040416
81.
GRCh37:
Chr9:98231215
GRCh38:
Chr9:95468933
PTCH1, LOC100507346V539L, V624L, V638L, V689L, V690LGorlin syndromeUncertain significance
(May 20, 2020)
criteria provided, single submitterVCV001038303
82.
GRCh37:
Chr9:98229700
GRCh38:
Chr9:95467418
PTCH1, LOC100507346V687A, V701A, V602A, V752A, V753AGorlin syndromeUncertain significance
(Sep 15, 2020)
criteria provided, single submitterVCV001037838
83.
GRCh37:
Chr9:98229426
GRCh38:
Chr9:95467144
PTCH1, LOC100507346W693C, W792C, W778C, W844C, W843CGorlin syndromeUncertain significance
(May 11, 2020)
criteria provided, single submitterVCV001037360
84.
GRCh37:
Chr9:98231104
GRCh38:
Chr9:95468822
PTCH1, LOC100507346C675G, C576G, C726G, C727G, C661GGorlin syndromeUncertain significance
(Jul 13, 2020)
criteria provided, single submitterVCV001037021
85.
GRCh37:
Chr9:98231226
GRCh38:
Chr9:95468944
PTCH1, LOC100507346S535C, S685C, S686C, S634C, S620CGorlin syndromeUncertain significance
(Aug 4, 2020)
criteria provided, single submitterVCV001034845
86.
GRCh37:
Chr9:98229508
GRCh38:
Chr9:95467226
PTCH1, LOC100507346H666P, H751P, H765P, H816P, H817PGorlin syndromeUncertain significance
(Feb 13, 2020)
criteria provided, single submitterVCV001026988
87.
GRCh37:
Chr9:98229558
GRCh38:
Chr9:95467276
PTCH1, LOC100507346F649L, F734L, F748L, F799L, F800LGorlin syndromeUncertain significance
(Jun 21, 2020)
criteria provided, single submitterVCV001026082
88.
GRCh37:
Chr9:98232204
GRCh38:
Chr9:95469922
PTCH1, LOC100507346V429I, V514I, V528I, V579I, V580IGorlin syndromeUncertain significance
(Jul 20, 2020)
criteria provided, single submitterVCV001025008
89.
GRCh37:
Chr9:98231211
GRCh38:
Chr9:95468929
PTCH1, LOC100507346T540I, T625I, T639I, T690I, T691IGorlin syndromeUncertain significance
(Apr 27, 2020)
criteria provided, single submitterVCV001024874
90.
GRCh37:
Chr9:98231308
GRCh38:
Chr9:95469026
PTCH1, LOC100507346Q508E, Q593E, Q607E, Q658E, Q659EGorlin syndromeUncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV001024437
91.
GRCh37:
Chr9:98229553
GRCh38:
Chr9:95467271
PTCH1, LOC100507346N651S, N736S, N750S, N801S, N802SGorlin syndromeUncertain significance
(Apr 20, 2020)
criteria provided, single submitterVCV001021388
92.
GRCh37:
Chr9:98229536
GRCh38:
Chr9:95467254
PTCH1, LOC100507346Q657E, Q742E, Q756E, Q807E, Q808EGorlin syndromeUncertain significance
(Oct 23, 2020)
criteria provided, single submitterVCV001021328
93.
GRCh37:
Chr9:98231239
GRCh38:
Chr9:95468957
PTCH1, LOC100507346R531G, R616G, R630G, R681G, R682GGorlin syndromeUncertain significance
(Apr 10, 2018)
criteria provided, single submitterVCV001016310
94.
GRCh37:
Chr9:98229515
GRCh38:
Chr9:95467233
PTCH1, LOC100507346I664V, I749V, I763V, I814V, I815VGorlin syndromeUncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV001014819
95.
GRCh37:
Chr9:98231109
GRCh38:
Chr9:95468827
PTCH1, LOC100507346P574H, P659H, P673H, P724H, P725HGorlin syndromeUncertain significance
(Jan 14, 2020)
criteria provided, single submitterVCV001013881
96.
GRCh37:
Chr9:98215803
GRCh38:
Chr9:95453521
PTCH1G1070R, G1084R, G1135R, G1136R, G985Rnot providedLikely pathogenic
(Nov 1, 2020)
criteria provided, single submitterVCV001012621
97.
GRCh37:
Chr9:98211554
GRCh38:
Chr9:95449272
PTCH1P1050S, P1135S, P1149S, P1200S, P1201Snot providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012620
98.
GRCh37:
Chr9:98229593
GRCh38:
Chr9:95467311
PTCH1, LOC100507346D638H, D723H, D737H, D788H, D789HGorlin syndromeUncertain significance
(Aug 27, 2020)
criteria provided, single submitterVCV001011396
99.
GRCh37:
Chr9:98229655
GRCh38:
Chr9:95467373
PTCH1, LOC100507346T617S, T702S, T716S, T767S, T768SGorlin syndromeUncertain significance
(Oct 25, 2020)
criteria provided, single submitterVCV001009673
100.
GRCh37:
Chr9:98231157
GRCh38:
Chr9:95468875
PTCH1, LOC100507346R558K, R643K, R657K, R708K, R709KGorlin syndromeUncertain significance
(Aug 4, 2020)
criteria provided, single submitterVCV001009340
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