| - GRCh37:
- Chr3:189612050
- GRCh38:
- Chr3:189894261
| TP63 | I422T, I507T, I597T, I599T, I601T | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | Uncertain significance
(Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:189608649
- GRCh38:
- Chr3:189890860
| TP63 | Q571R, Q573R, Q396R, Q481R, Q575R | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | Uncertain significance
(Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:189582095
- GRCh38:
- Chr3:189864306
| TP63 | | TP63-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 |
| - GRCh37:
- Chr3:189349324
- GRCh38:
- Chr3:189631535
| TP63 | R7L | ADULT 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 |
| - GRCh37:
- Chr3:189455622
- GRCh38:
- Chr3:189737833
| TP63 | | ADULT 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 |
| - GRCh37:
- Chr3:189607196
- GRCh38:
- Chr3:189889407
| TP63 | | ADULT 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 |
| - GRCh37:
- Chr3:189526234
- GRCh38:
- Chr3:189808445
| TP63 | | 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, TP63-Related Spectrum Disorders | Benign/Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:189604227
- GRCh38:
- Chr3:189886438
| TP63 | P286L, P465L, P282L, P371L, P463L, P367L, P461L | TP63-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 |
| - GRCh37:
- Chr3:189349366
- GRCh38:
- Chr3:189631577
| TP63 | R21H | 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, TP63-Related Spectrum Disorders | Uncertain significance
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:189604185
- GRCh38:
- Chr3:189886396
| TP63 | T447S, T268S, T272S, T449S, T451S, T353S, T357S | 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, TP63-Related Spectrum Disorders | Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:189607233
- GRCh38:
- Chr3:189889444
| TP63 | T536A, T359A, T444A, T534A, T538A | Ectrodactyly, 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 |
| - GRCh37:
- Chr3:189612251
- GRCh38:
- Chr3:189894462
| TP63 | R666H, R664H, R489H, R574H, R668H | ADULT 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 |
| - GRCh37:
- Chr3:189586471
- GRCh38:
- Chr3:189868682
| TP63 | | ADULT 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 |
| - GRCh37:
- Chr3:189584605
- GRCh38:
- Chr3:189866816
| TP63 | | TP63-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 |
| - GRCh37:
- Chr3:189612055
- GRCh38:
- Chr3:189894266
| TP63 | D599H, D509H, D603H, D601H, D424H | TP63-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 |
| - GRCh37:
- Chr3:189349354
- GRCh38:
- Chr3:189631565
| TP63 | P17R | Ectrodactyly, 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 |
| - GRCh37:
- Chr3:189612062
- GRCh38:
- Chr3:189894273
| TP63 | R601Q, R603Q, R511Q, R426Q, R605Q | not 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 |
| - GRCh37:
- Chr3:189455576
- GRCh38:
- Chr3:189737787
| TP63 | R35Q, R37Q | Limb-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 |
| - GRCh37:
- Chr3:189612078-189612080
- GRCh38:
- Chr3:189894289-189894291
| TP63 | S518del, S610del, S612del, S433del, S608del | Limb-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 |
| - GRCh37:
- Chr3:189612269
- GRCh38:
- Chr3:189894480
| TP63 | R495H, R580H, R670H, R672H, R674H | Limb-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 |
| - GRCh37:
- Chr3:189607247
- GRCh38:
- Chr3:189889458
| TP63 | | ADULT 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 |
| - GRCh37:
- Chr3:189608622
- GRCh38:
- Chr3:189890833
| TP63 | T564M, T472M, T387M, T562M, T566M | TP63-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 |
| - GRCh37:
- Chr3:189586497
- GRCh38:
- Chr3:189868708
| TP63 | T195M, T374M, T372M, T280M | TP63-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 |
| - GRCh37:
- Chr3:189585739
- GRCh38:
- Chr3:189867950
| TP63 | | TP63-Related Spectrum Disorders, ADULT 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 | Likely benign
(Nov 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:189526102
- GRCh38:
- Chr3:189808313
| TP63 | | Ectrodactyly, 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 |
| - GRCh37:
- Chr3:189607220
- GRCh38:
- Chr3:189889431
| TP63 | | ADULT 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 |
| - GRCh37:
- Chr3:189612036
- GRCh38:
- Chr3:189894247
| TP63 | | ADULT 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 |
| - GRCh37:
- Chr3:189582155
- GRCh38:
- Chr3:189864366
| TP63 | | Ectrodactyly, 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 |
| - GRCh37:
- Chr3:189526138
- GRCh38:
- Chr3:189808349
| TP63 | | ADULT 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 |
| - GRCh37:
- Chr3:189456529
- GRCh38:
- Chr3:189738740
| TP63 | R97H, R95H | ADULT 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 |
| - GRCh37:
- Chr3:189585735
- GRCh38:
- Chr3:189867946
| TP63 | | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Rapp-Hodgkin ectodermal dysplasia syndrome,
ADULT syndrome, Split hand-foot malformation 4, Orofacial cleft 8,
Limb-mammary syndrome, not provided, TP63-Related Spectrum Disorders,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8 ...see more | Benign/Likely benign
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:189607152
- GRCh38:
- Chr3:189889363
| TP63 | P511T, P507T, P509T, P332T, P417T | ADULT syndrome, Orofacial cleft 8, 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, TP63-Related Spectrum Disorders, not specified,
not provided, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Orofacial cleft 8,
...see more | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:189456421-189456422
- GRCh38:
- Chr3:189738632-189738633
| TP63 | | ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Orofacial cleft 8,
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Limb-mammary syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome,
Split hand-foot malformation 4, TP63-Related Spectrum Disorders, not specified,
not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:189612073
- GRCh38:
- Chr3:189894284
| TP63 | E609K, E515K, E430K, E605K, E607K | ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Split hand-foot malformation 4,
Limb-mammary syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, Orofacial cleft 8,
Rapp-Hodgkin ectodermal dysplasia syndrome, Split hand-foot malformation 4 | Uncertain significance
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:189612075-189612076
- GRCh38:
- Chr3:189894286-189894287
| TP63 | H436fs, H521fs, H611fs, H613fs, H615fs | Rapp-Hodgkin ectodermal dysplasia syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | Pathogenic
(Jan 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr3:189607267
- GRCh38:
- Chr3:189889478
| TP63 | I549T, I455T, I545T, I547T, I370T | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin ectodermal dysplasia syndrome | Pathogenic
(Jul 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:189608606
- GRCh38:
- Chr3:189890817
| TP63 | C561G, C467G, C382G, C557G, C559G | TP63-Related Spectrum Disorders | Likely pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:189608584
- GRCh38:
- Chr3:189890795
| TP63 | L553F, L374F, L459F, L549F, L551F | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | Pathogenic
(Sep 1, 2009) | no assertion criteria provided |