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Items: 1 to 100 of 147

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:189612265
GRCh38:
Chr3:189894476
TP63Q494*, Q579*, Q669*, Q671*, Q673*Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr3:189585664
GRCh38:
Chr3:189867875
TP63N309D, N215D, N130D, N307DEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Likely pathogenic
(Jan 24, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr3:189582120
GRCh38:
Chr3:189864331
TP63A133T, A225T, A227T, A48TEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum DisordersConflicting interpretations of pathogenicity
(Mar 22, 2023)		criteria provided, conflicting interpretations
4.
GRCh37:
Chr3:189582095
GRCh38:
Chr3:189864306
TP63TP63-Related Spectrum Disorders, ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,
Limb-mammary syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, Orofacial cleft 8		Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:189349324
GRCh38:
Chr3:189631535
TP63R7LADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Limb-mammary syndrome,
Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, TP63-Related Spectrum Disorders		Benign/Likely benign
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:189455622
GRCh38:
Chr3:189737833
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Limb-mammary syndrome,
Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, TP63-Related Spectrum Disorders		Likely benign
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr3:189607196
GRCh38:
Chr3:189889407
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Limb-mammary syndrome,
Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, TP63-Related Spectrum Disorders		Likely benign
(Sep 8, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:189526234
GRCh38:
Chr3:189808445
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Limb-mammary syndrome,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4,
Orofacial cleft 8, TP63-Related Spectrum Disorders		Benign/Likely benign
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr3:189604227
GRCh38:
Chr3:189886438
TP63P286L, P465L, P282L, P371L, P463L, P367L, P461LTP63-Related Spectrum Disorders, Split hand-foot malformation 4, Orofacial cleft 8,
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Limb-mammary syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Rapp-Hodgkin ectodermal dysplasia syndrome, ADULT syndrome		Uncertain significance
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:189349366
GRCh38:
Chr3:189631577
TP63R21HEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, Limb-mammary syndrome, Orofacial cleft 8,
ADULT syndrome, TP63-Related Spectrum Disorders		Uncertain significance
(May 5, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:189604185
GRCh38:
Chr3:189886396
TP63T447S, T268S, T272S, T449S, T451S, T353S, T357SEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, Limb-mammary syndrome, Orofacial cleft 8,
ADULT syndrome, TP63-Related Spectrum Disorders		Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
12.
GRCh37:
Chr3:189607233
GRCh38:
Chr3:189889444
TP63T536A, T359A, T444A, T534A, T538AEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4,
ADULT syndrome, Limb-mammary syndrome, Orofacial cleft 8,
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, TP63-Related Spectrum Disorders		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:189612251
GRCh38:
Chr3:189894462
TP63R666H, R664H, R489H, R574H, R668HADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Orofacial cleft 8,
Limb-mammary syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, TP63-Related Spectrum Disorders		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:189586471
GRCh38:
Chr3:189868682
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Split hand-foot malformation 4,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Limb-mammary syndrome, Orofacial cleft 8,
Rapp-Hodgkin ectodermal dysplasia syndrome, TP63-Related Spectrum Disorders		Likely benign
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:189584605
GRCh38:
Chr3:189866816
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,
Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4, Limb-mammary syndrome,
Orofacial cleft 8, ADULT syndrome		Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:189612055
GRCh38:
Chr3:189894266
TP63D599H, D509H, D603H, D601H, D424HTP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,
Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4, Limb-mammary syndrome,
Orofacial cleft 8, ADULT syndrome		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:189349354
GRCh38:
Chr3:189631565
TP63P17REctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, ADULT syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome,
Orofacial cleft 8, Limb-mammary syndrome, Split hand-foot malformation 4,
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, TP63-Related Spectrum Disorders		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:189612062
GRCh38:
Chr3:189894273
TP63R601Q, R603Q, R511Q, R426Q, R605Qnot provided, Orofacial cleft 8, Limb-mammary syndrome,
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, ADULT syndrome, TP63-Related Spectrum Disorders
Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr3:189455576
GRCh38:
Chr3:189737787
TP63R35Q, R37QLimb-mammary syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
ADULT syndrome, Split hand-foot malformation 4, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,
Orofacial cleft 8, TP63-Related Spectrum Disorders		Uncertain significance
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:189612078-189612080
GRCh38:
Chr3:189894289-189894291
TP63S518del, S610del, S612del, S433del, S608delLimb-mammary syndrome, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4,
Orofacial cleft 8, TP63-Related Spectrum Disorders		Uncertain significance
(Sep 24, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:189586388
GRCh38:
Chr3:189868599
TP63R159C, R244C, R336C, R338CEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Likely pathogenic
(Jan 17, 2019)		no assertion criteria provided
22.
GRCh37:
Chr3:189584506
GRCh38:
Chr3:189866717
TP63E174K, E266K, E268K, E89KEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Conflicting interpretations of pathogenicity
(Jan 3, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr3:189612269
GRCh38:
Chr3:189894480
TP63R495H, R580H, R670H, R672H, R674HLimb-mammary syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
ADULT syndrome, not provided		Uncertain significance
(May 10, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:189607247
GRCh38:
Chr3:189889458
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4, Orofacial cleft 8,
Limb-mammary syndrome, TP63-Related Spectrum Disorders		Likely benign
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:189608622
GRCh38:
Chr3:189890833
TP63T564M, T472M, T387M, T562M, T566MTP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8,
Rapp-Hodgkin ectodermal dysplasia syndrome, ADULT syndrome, Limb-mammary syndrome,
Split hand-foot malformation 4, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:189586497
GRCh38:
Chr3:189868708
TP63T195M, T374M, T372M, T280MTP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8,
Rapp-Hodgkin ectodermal dysplasia syndrome, ADULT syndrome, Limb-mammary syndrome,
Split hand-foot malformation 4, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome		Uncertain significance
(Aug 29, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:189607144
GRCh38:
Chr3:189889355
TP63T414I, T506I, T329I, T504I, T508ITP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr3:189604298
GRCh38:
Chr3:189886509
TP63A306T, A487T, A395T, A310T, A391T, A485T, A489TTP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr3:189582129
GRCh38:
Chr3:189864340
TP63V228L, V51L, V136L, V230LTP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr3:189349365
GRCh38:
Chr3:189631576
TP63R21CTP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr3:189349302
GRCh38:
Chr3:189631513
LOC111162620, TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
32.
GRCh37:
Chr3:189613668
GRCh38:
Chr3:189895879
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr3:189613634
GRCh38:
Chr3:189895845
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr3:189613111
GRCh38:
Chr3:189895322
TP63Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr3:189612762
GRCh38:
Chr3:189894973
TP63Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Benign/Likely benign
(Jun 23, 2017)		criteria provided, single submitter
36.
GRCh37:
Chr3:189349267
GRCh38:
Chr3:189631478
LOC111162620, TP63Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr3:189614039
GRCh38:
Chr3:189896250
TP63Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr3:189613093
GRCh38:
Chr3:189895304
TP63Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr3:189612128
GRCh38:
Chr3:189894339
TP63S448N, S533N, S627N, S623N, S625NTP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr3:189612125
GRCh38:
Chr3:189894336
TP63V532G, V447G, V624G, V626G, V622GInborn genetic diseases, TP63-Related Spectrum Disorders, Orofacial cleft 8,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr3:189612082
GRCh38:
Chr3:189894293
TP63S608A, S612A, S433A, S518A, S610AOrofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr3:189604237
GRCh38:
Chr3:189886448
TP63Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr3:189613539
GRCh38:
Chr3:189895750
TP63Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr3:189612571
GRCh38:
Chr3:189894782
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Mar 23, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr3:189612009
GRCh38:
Chr3:189894220
TP63E325K, E508K, E410K, E414KOrofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
46.
GRCh37:
Chr3:189526123
GRCh38:
Chr3:189808334
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8, TP63-Related Spectrum Disorders
Conflicting interpretations of pathogenicity
(Sep 23, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr3:189349218
GRCh38:
Chr3:189631429
LOC111162620, TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8, TP63-Related Spectrum Disorders
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr3:189614453
GRCh38:
Chr3:189896664
TP63Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr3:189613728
GRCh38:
Chr3:189895939
TP63Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr3:189613460
GRCh38:
Chr3:189895671
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8, TP63-Related Spectrum Disorders
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr3:189613050
GRCh38:
Chr3:189895261
TP63Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr3:189613027
GRCh38:
Chr3:189895238
TP63Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr3:189456449
GRCh38:
Chr3:189738660
TP63Q68H, Q70HOrofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr3:189614648
GRCh38:
Chr3:189896859
TP63Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders
Uncertain significance
(Mar 2, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr3:189614307
GRCh38:
Chr3:189896518
TP63Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr3:189607149
GRCh38:
Chr3:189889360
TP63M508L, M510L, M331L, M416L, M506LTP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:189597868
GRCh38:
Chr3:189880079
TP63C455*, C361*Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Likely benign
(May 28, 2019)		criteria provided, single submitter
58.
GRCh37:
Chr3:189507518-189507519
GRCh38:
Chr3:189789729-189789730
TP63, LOC111162621not provided, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Benign/Likely benign
(May 28, 2019)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr3:189585739
GRCh38:
Chr3:189867950
TP63TP63-Related Spectrum Disorders, ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,
Limb-mammary syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, Orofacial cleft 8		Likely benign
(Nov 11, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr3:189526102
GRCh38:
Chr3:189808313
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome, Orofacial cleft 8,
ADULT syndrome, Limb-mammary syndrome, Split hand-foot malformation 4,
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, TP63-Related Spectrum Disorders, not provided
Benign/Likely benign
(Jul 20, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:189585639
GRCh38:
Chr3:189867850
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Conflicting interpretations of pathogenicity
(Mar 24, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr3:189607220
GRCh38:
Chr3:189889431
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Limb-mammary syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome, Orofacial cleft 8,
Split hand-foot malformation 4, not provided, TP63-Related Spectrum Disorders
Likely benign
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr3:189585740
GRCh38:
Chr3:189867951
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Conflicting interpretations of pathogenicity
(Apr 4, 2018)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr3:189455550
GRCh38:
Chr3:189737761
TP63H26Q, H28QTP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Conflicting interpretations of pathogenicity
(Jul 7, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr3:189612036
GRCh38:
Chr3:189894247
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Limb-mammary syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4,
Orofacial cleft 8, TP63-Related Spectrum Disorders		Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:189582155
GRCh38:
Chr3:189864366
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Limb-mammary syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome,
ADULT syndrome, Split hand-foot malformation 4, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,
Orofacial cleft 8, not provided		Likely benign
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr3:189526138
GRCh38:
Chr3:189808349
TP63ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Limb-mammary syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4,
Orofacial cleft 8, TP63-Related Spectrum Disorders		Likely benign
(Sep 23, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:189608610
GRCh38:
Chr3:189890821
TP63L383P, L468P, L558P, L560P, L562PEctrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Likely pathogenic
(May 29, 2019)		criteria provided, single submitter
69.
GRCh37:
Chr3:189604107-189604324
GRCh38:
Chr3:189886318-189886535
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Pathogenic
(May 3, 2019)		no assertion criteria provided
70.
GRCh37:
Chr3:189455528
GRCh38:
Chr3:189737739
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Conflicting interpretations of pathogenicity
(Jun 21, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr3:189456529
GRCh38:
Chr3:189738740
TP63R97H, R95HADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Limb-mammary syndrome,
Orofacial cleft 8, TP63-Related Spectrum Disorders, not provided
Uncertain significance
(Apr 7, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr3:189526240
GRCh38:
Chr3:189808451
TP63TP63-Related Spectrum Disorders, not provided, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Orofacial cleft 8		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr3:189582119
GRCh38:
Chr3:189864330
TP63TP63-Related Spectrum Disorders, not provided, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3,
Orofacial cleft 8		Conflicting interpretations of pathogenicity
(Mar 2, 2020)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr3:189582180
GRCh38:
Chr3:189864391
TP63H247Y, H153Y, H245Y, H68YTP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Pathogenic/Likely pathogenic
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:189614916
GRCh38:
Chr3:189897127
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr3:189614768
GRCh38:
Chr3:189896979
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr3:189614717
GRCh38:
Chr3:189896928
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr3:189614636
GRCh38:
Chr3:189896847
TP63not provided, TP63-Related Spectrum Disorders, Orofacial cleft 8,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3		Benign
(May 19, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr3:189614609
GRCh38:
Chr3:189896820
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr3:189614564
GRCh38:
Chr3:189896775
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr3:189614507
GRCh38:
Chr3:189896718
TP63not provided, TP63-Related Spectrum Disorders, Orofacial cleft 8,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3		Benign
(May 19, 2021)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr3:189614496
GRCh38:
Chr3:189896707
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr3:189614488
GRCh38:
Chr3:189896699
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr3:189614446
GRCh38:
Chr3:189896657
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr3:189614430
GRCh38:
Chr3:189896641
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr3:189614414
GRCh38:
Chr3:189896625
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr3:189614300
GRCh38:
Chr3:189896511
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr3:189614293
GRCh38:
Chr3:189896504
TP63TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8,
not provided		Benign/Likely benign
(Jun 1, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:189614250
GRCh38:
Chr3:189896461
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr3:189614230
GRCh38:
Chr3:189896441
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders, Orofacial cleft 8
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr3:189614137
GRCh38:
Chr3:189896348
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders, Orofacial cleft 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr3:189613993
GRCh38:
Chr3:189896204
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr3:189613911
GRCh38:
Chr3:189896122
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr3:189613763
GRCh38:
Chr3:189895974
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr3:189613755
GRCh38:
Chr3:189895966
TP63TP63-Related Spectrum Disorders, Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr3:189613677
GRCh38:
Chr3:189895888
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders, Orofacial cleft 8
Benign
(Jan 12, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr3:189613508
GRCh38:
Chr3:189895719
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders, Orofacial cleft 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr3:189613472
GRCh38:
Chr3:189895683
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders, Orofacial cleft 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr3:189613455
GRCh38:
Chr3:189895666
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders, Orofacial cleft 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr3:189613257
GRCh38:
Chr3:189895468
TP63Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, TP63-Related Spectrum Disorders, Orofacial cleft 8
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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