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Items: 1 to 100 of 241

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:223168232
GRCh38:
Chr1:222994890
DISP1R299*, R56*Holoprosencephaly 7Uncertain significance
(Mar 7, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr9:98278946
GRCh38:
Chr9:95516664
PTCH1E53QGorlin syndrome, Gorlin syndrome, Holoprosencephaly 7,
Basal cell carcinoma, susceptibility to, 1		Uncertain significance
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:98229392
GRCh38:
Chr9:95467110
LOC100507346, PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Feb 11, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr9:98224283
GRCh38:
Chr9:95462001
PTCH1Holoprosencephaly 7Uncertain significance
(Sep 23, 2020)		criteria provided, single submitter
5.
GRCh37:
Chr9:98209574
GRCh38:
Chr9:95447292
PTCH1A1321T, A1171T, A1256T, A1270T, A1322TGorlin syndrome, Holoprosencephaly 7, Gorlin syndrome,
Basal cell carcinoma, susceptibility to, 1, Hereditary cancer-predisposing syndrome		Uncertain significance
(Jun 21, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr9:98244310
GRCh38:
Chr9:95482028
PTCH1L157I, L222I, L223I, L72IHereditary cancer-predisposing syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Holoprosencephaly 7, Gorlin syndrome		Uncertain significance
(Apr 24, 2023)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr9:98279029
GRCh38:
Chr9:95516747
PTCH1P25fsBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Holoprosencephaly 7		Uncertain significance
(Jul 27, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr9:98207816
GRCh38:
Chr9:95445534
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr9:98207772
GRCh38:
Chr9:95445490
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr9:98240386
GRCh38:
Chr9:95478104
PTCH1S432Y, S282Y, S367Y, S433YGorlin syndrome, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7,
Gorlin syndrome, Basal cell carcinoma, susceptibility to, 1		Uncertain significance
(Jun 7, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:98211422
GRCh38:
Chr9:95449140
PTCH1Q1094E, Q1245E, Q1193E, Q1244E, Q1179EBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Gorlin syndrome		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:98209360
GRCh38:
Chr9:95447078
PTCH1P1242L, P1327L, P1341L, P1393L, P1392LGorlin syndrome, Basal cell carcinoma, susceptibility to, 1, Holoprosencephaly 7,
Hereditary cancer-predisposing syndrome, not specified		Uncertain significance
(Jan 26, 2023)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr9:98229458
GRCh38:
Chr9:95467176
LOC100507346, PTCH1L683V, L768V, L782V, L833V, L834VHoloprosencephaly 7Uncertain significance
(May 15, 2020)		criteria provided, single submitter
14.
GRCh37:
Chr9:98229590
GRCh38:
Chr9:95467308
LOC100507346, PTCH1F639V, F790V, F724V, F738V, F789VHoloprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr9:98208427
GRCh38:
Chr9:95446145
PTCH1Holoprosencephaly 7, Gorlin syndromeBenign
(Jan 13, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr9:98208225
GRCh38:
Chr9:95445943
PTCH1Holoprosencephaly 7, Gorlin syndromeConflicting interpretations of pathogenicity
(Apr 27, 2017)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr9:98207732
GRCh38:
Chr9:95445450
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr9:98207543
GRCh38:
Chr9:95445261
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr9:98207037
GRCh38:
Chr9:95444755
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr9:98206412
GRCh38:
Chr9:95444130
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr9:98208197
GRCh38:
Chr9:95445915
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr9:98208083
GRCh38:
Chr9:95445801
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr9:98207522
GRCh38:
Chr9:95445240
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr9:98207508
GRCh38:
Chr9:95445226
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr9:98207419
GRCh38:
Chr9:95445137
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr9:98206918
GRCh38:
Chr9:95444636
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr9:98206790
GRCh38:
Chr9:95444508
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr9:98206786
GRCh38:
Chr9:95444504
PTCH1Gorlin syndrome, Holoprosencephaly 7Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr9:98206261
GRCh38:
Chr9:95443979
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr9:98206250
GRCh38:
Chr9:95443968
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr9:98205938
GRCh38:
Chr9:95443656
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr9:98207322
GRCh38:
Chr9:95445040
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr9:98206674
GRCh38:
Chr9:95444392
PTCH1Gorlin syndrome, Holoprosencephaly 7Benign
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr9:98205880
GRCh38:
Chr9:95443598
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr9:98205564
GRCh38:
Chr9:95443282
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr9:98224126
GRCh38:
Chr9:95461844
PTCH1Gorlin syndrome, Holoprosencephaly 7Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr9:98209216
GRCh38:
Chr9:95446934
PTCH1P1375L, P1441L, P1389L, P1440L, P1290LHereditary cancer-predisposing syndrome, Holoprosencephaly 7, Gorlin syndrome
Uncertain significance
(Jul 17, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr9:98208613
GRCh38:
Chr9:95446331
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr9:98207925
GRCh38:
Chr9:95445643
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr9:98207913
GRCh38:
Chr9:95445631
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr9:98207888
GRCh38:
Chr9:95445606
PTCH1Holoprosencephaly 7, Gorlin syndromeBenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr9:98208522
GRCh38:
Chr9:95446240
PTCH1Holoprosencephaly 7, Gorlin syndromeBenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr9:98207119
GRCh38:
Chr9:95444837
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr9:98206579
GRCh38:
Chr9:95444297
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr9:98206495
GRCh38:
Chr9:95444213
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr9:98205537
GRCh38:
Chr9:95443255
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr9:98270765
GRCh38:
Chr9:95508483
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Nov 14, 2017)		criteria provided, single submitter
48.
GRCh37:
Chr9:98222019
GRCh38:
Chr9:95459737
PTCH1S851I, S916I, S917I, S865I, S766IHoloprosencephaly 7, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 29, 2023)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr9:98231093
GRCh38:
Chr9:95468811
LOC100507346, PTCH1W664C, W729C, W730C, W678C, W579CHereditary cancer-predisposing syndrome, Gorlin syndrome, Gorlin syndrome,
Holoprosencephaly 7, Basal cell carcinoma, susceptibility to, 1		Uncertain significance
(Mar 26, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr9:98238332
GRCh38:
Chr9:95476050
PTCH1R420Q, R505Q, R519Q, R570Q, R571QHoloprosencephaly 7, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr9:98238398
GRCh38:
Chr9:95476116
PTCH1A497V, A398V, A548V, A483V, A549VGorlin syndrome, Gorlin syndrome, Holoprosencephaly 7,
Basal cell carcinoma, susceptibility to, 1, Hereditary cancer-predisposing syndrome		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr9:98218672
GRCh38:
Chr9:95456390
PTCH1Hereditary cancer-predisposing syndrome, Gorlin syndrome, Holoprosencephaly 7
Benign/Likely benign
(Sep 14, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr9:98209609
GRCh38:
Chr9:95447327
PTCH1G1244D, G1309D, G1258D, G1310D, G1159Dnot provided, Pituitary stalk interruption syndrome, Hereditary cancer-predisposing syndrome,
Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Gorlin syndrome		Conflicting interpretations of pathogenicity
(Jan 23, 2023)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr9:98209303
GRCh38:
Chr9:95447021
PTCH1P1411L, P1412L, P1346L, P1261L, P1360LHereditary cancer-predisposing syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Holoprosencephaly 7, Gorlin syndrome		Uncertain significance
(Jun 26, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr9:98231224
GRCh38:
Chr9:95468942
LOC100507346, PTCH1V621M, V687M, V635M, V686M, V536MHereditary cancer-predisposing syndrome, Acute myeloid leukemia, Holoprosencephaly 7,
Gorlin syndrome, not specified		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr9:98268880
GRCh38:
Chr9:95506598
PTCH1G2E, G68E, G67EHereditary cancer-predisposing syndrome, Holoprosencephaly 7, Basal cell carcinoma, susceptibility to, 1,
Gorlin syndrome, Craniopharyngioma, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Oct 15, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr9:98224165
GRCh38:
Chr9:95461883
PTCH1S892R, S826R, S741R, S840R, S891RHereditary cancer-predisposing syndrome, Gorlin syndrome, Basal cell carcinoma, susceptibility to, 1,
Gorlin syndrome, Holoprosencephaly 7		Uncertain significance
(Feb 6, 2023)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr9:98242369
GRCh38:
Chr9:95480087
PTCH1L251F, L317F, L316F, L166FGorlin syndrome, Hereditary cancer-predisposing syndrome, Basal cell carcinoma, susceptibility to, 1,
Gorlin syndrome, Holoprosencephaly 7		Uncertain significance
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr9:98209489
GRCh38:
Chr9:95447207
PTCH1R1284Q, R1350Q, R1298Q, R1349Q, R1199QGorlin syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Holoprosencephaly 7, Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Jan 19, 2023)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr9:98209400
GRCh38:
Chr9:95447118
PTCH1A1380T, A1314T, A1328T, A1229T, A1379THereditary cancer-predisposing syndrome, Gorlin syndrome, Basal cell carcinoma, susceptibility to, 1,
Gorlin syndrome, Holoprosencephaly 7		Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr9:98240469
GRCh38:
Chr9:95478187
PTCH1Hereditary cancer-predisposing syndrome, Gorlin syndrome, Gorlin syndrome,
Holoprosencephaly 7		Pathogenic/Likely pathogenic
(Jun 5, 2019)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr9:98242775
GRCh38:
Chr9:95480493
PTCH1M215T, M281T, M130T, M280THereditary cancer-predisposing syndrome, Gorlin syndrome, Holoprosencephaly 7,
Gorlin syndrome		Uncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr9:98220457
GRCh38:
Chr9:95458175
PTCH1Gorlin syndrome, not provided, Hereditary cancer-predisposing syndrome,
Holoprosencephaly 7		Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr9:98270581
GRCh38:
Chr9:95508299
PTCH1Hereditary cancer-predisposing syndrome, Gorlin syndrome, Holoprosencephaly 7
Conflicting interpretations of pathogenicity
(Dec 25, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr9:98220397
GRCh38:
Chr9:95458115
PTCH1Gorlin syndrome, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
Conflicting interpretations of pathogenicity
(Aug 24, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr9:98239097
GRCh38:
Chr9:95476815
PTCH1F516V, F450V, F365V, F464V, F515VBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Gorlin syndrome, Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Jan 3, 2023)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr9:98232132
GRCh38:
Chr9:95469850
LOC100507346, PTCH1E538K, E604K, E552K, E603K, E453KHereditary cancer-predisposing syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Holoprosencephaly 7, Gorlin syndrome		Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr9:98268836
GRCh38:
Chr9:95506554
PTCH1F83L, F17L, F82LHereditary cancer-predisposing syndrome, Gorlin syndrome, Holoprosencephaly 7
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr9:98229545
GRCh38:
Chr9:95467263
LOC100507346, PTCH1I805V, I739V, I804V, I753V, I654VBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
not provided, Gorlin syndrome		Uncertain significance
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr9:98209630
GRCh38:
Chr9:95447348
PTCH1R1303L, R1237L, R1152L, R1251L, R1302LHereditary cancer-predisposing syndrome, Gorlin syndrome, Basal cell carcinoma, susceptibility to, 1,
Gorlin syndrome, Holoprosencephaly 7		Conflicting interpretations of pathogenicity
(Jul 5, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr9:98242716
GRCh38:
Chr9:95480434
PTCH1D235N, D301N, D150N, D300NHoloprosencephaly 7, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Hereditary cancer-predisposing syndrome, Gorlin syndrome		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr9:98229461
GRCh38:
Chr9:95467179
LOC100507346, PTCH1M833V, M767V, M682V, M781V, M832VHoloprosencephaly 7, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Hereditary cancer-predisposing syndrome, Gorlin syndrome		Conflicting interpretations of pathogenicity
(Feb 7, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr9:98229671
GRCh38:
Chr9:95467389
LOC100507346, PTCH1V763F, V697F, V612F, V711F, V762FHoloprosencephaly 7, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Hereditary cancer-predisposing syndrome, Gorlin syndrome		Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr9:98270570
GRCh38:
Chr9:95508288
PTCH1G25AHoloprosencephaly 7, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr9:98211580
GRCh38:
Chr9:95449298
PTCH1R1126H, R1192H, R1041H, R1140H, R1191HHereditary cancer-predisposing syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Holoprosencephaly 7, Gorlin syndrome		Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr9:98211507
GRCh38:
Chr9:95449225
PTCH1Holoprosencephaly 7, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Benign/Likely benign
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr9:98248139
GRCh38:
Chr9:95485857
PTCH1R138C, R72C, R137CHereditary cancer-predisposing syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Holoprosencephaly 7, Ovarian cancer, Gorlin syndrome,
not provided		Conflicting interpretations of pathogenicity
(Mar 27, 2023)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr9:98209404
GRCh38:
Chr9:95447122
PTCH1Holoprosencephaly 7, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Oct 16, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr9:98268829
GRCh38:
Chr9:95506547
PTCH1R19K, R85K, R84KHereditary cancer-predisposing syndrome, Holoprosencephaly 7, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr9:98229550
GRCh38:
Chr9:95467268
LOC100507346, PTCH1M737T, M803T, M652T, M802T, M751TBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Hereditary cancer-predisposing syndrome, Gorlin syndrome		Uncertain significance
(Feb 2, 2023)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr9:98221935
GRCh38:
Chr9:95459653
PTCH1R879fs, R944fs, R945fs, R794fs, R893fsHoloprosencephaly 7Likely pathogenic
(Jul 9, 2017)		criteria provided, single submitter
82.
GRCh37:
Chr9:98242840
GRCh38:
Chr9:95480558
PTCH1Hereditary cancer-predisposing syndrome, Holoprosencephaly 7, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr9:98209699
GRCh38:
Chr9:95447417
PTCH1S1280L, S1214L, S1279L, S1129L, S1228LHereditary cancer-predisposing syndrome, not provided, Holoprosencephaly 7,
Ovarian cancer, Gorlin syndrome		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr9:98270463
GRCh38:
Chr9:95508181
PTCH1A61TBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
not provided, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr9:98211421
GRCh38:
Chr9:95449139
PTCH1Q1179R, Q1245R, Q1193R, Q1244R, Q1094RBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Gorlin syndrome, Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr9:98231107
GRCh38:
Chr9:95468825
LOC100507346, PTCH1P726S, P660S, P575S, P725S, P674Snot specified, Hereditary cancer-predisposing syndrome, Holoprosencephaly 7,
Gorlin syndrome		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr9:98209514
GRCh38:
Chr9:95447232
PTCH1R1342C, R1276C, R1191C, R1290C, R1341CBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Holoprosencephaly 7, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr9:98270633
GRCh38:
Chr9:95508351
PTCH1A4GHoloprosencephaly 7, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr9:98215773
GRCh38:
Chr9:95453491
PTCH1D1146N, D1080N, D1145N, D995N, D1094NHereditary cancer-predisposing syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome,
Holoprosencephaly 7, Gorlin syndrome		Conflicting interpretations of pathogenicity
(Mar 9, 2023)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr9:98239981
GRCh38:
Chr9:95477699
PTCH1A385T, A451T, A450T, A300TBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Gorlin syndrome, Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr9:98241359
GRCh38:
Chr9:95479077
PTCH1E380K, E314K, E229K, E379KBasal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Holoprosencephaly 7,
Gorlin syndrome, Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Nov 29, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr9:98229625
GRCh38:
Chr9:95467343
LOC100507346, PTCH1T712M, T778M, T726M, T627M, T777MHereditary cancer-predisposing syndrome, Holoprosencephaly 7, Gorlin syndrome
Likely benign
(Mar 7, 2023)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr9:98241268
GRCh38:
Chr9:95478986
PTCH1Gorlin syndrome, not specified, Holoprosencephaly 7
Conflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr9:98215749
GRCh38:
Chr9:95453467
PTCH1not specified, Gorlin syndrome, Holoprosencephaly 7
Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr9:98270721
GRCh38:
Chr9:95508439
PTCH1Holoprosencephaly 7, Gorlin syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr9:98270598
GRCh38:
Chr9:95508316
PTCH1G16SHoloprosencephaly 7, Hereditary cancer-predisposing syndrome, Gorlin syndrome
Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr9:98242269
GRCh38:
Chr9:95479987
PTCH1S284N, S350N, S349N, S199NGorlin syndrome, Holoprosencephaly 7, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr9:98241377
GRCh38:
Chr9:95479095
PTCH1E374K, E308K, E223K, E373KGorlin syndrome, Holoprosencephaly 7, Hereditary cancer-predisposing syndrome
Uncertain significance
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr9:98239856
GRCh38:
Chr9:95477574
PTCH1Gorlin syndrome, Holoprosencephaly 7Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr9:98239852
GRCh38:
Chr9:95477570
PTCH1S428A, S494A, S343A, S493AGorlin syndrome, Holoprosencephaly 7, Hereditary cancer-predisposing syndrome
Uncertain significance
(Apr 26, 2022)		criteria provided, multiple submitters, no conflicts
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