NM_003722.5(TP63):c.325-18446del |
deletion |
not provided [RCV000522243] |
Chr3:189789826 [GRCh38] Chr3:189507615 [GRCh37] Chr3:3q28 |
pathogenic |
TP63, ARG227PRO |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000023290] |
Chr3:3q27 |
pathogenic |
NM_003722.5(TP63):c.1846del (p.Leu616fs) |
deletion |
ADULT syndrome [RCV000032228] |
Chr3:189894305 [GRCh38] Chr3:189612094 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.518G>A (p.Gly173Asp) |
single nucleotide variant |
ADULT syndrome [RCV000032229] |
Chr3:189808465 [GRCh38] Chr3:189526254 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) |
single nucleotide variant |
ADULT syndrome [RCV000591705]|Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006900]|TP63-Related Spectrum Disorders [RCV000812084]|not provided [RCV000394306] |
Chr3:189864379 [GRCh38] Chr3:189582168 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006901]|TP63-Related Spectrum Disorders [RCV000705452] |
Chr3:189864380 [GRCh38] Chr3:189582169 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006902] |
Chr3:189868620 [GRCh38] Chr3:189586409 [GRCh37] Chr3:3q28 |
pathogenic |
TP63, 1-BP INS, 1572A |
insertion |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006903] |
Chr3:3q27 |
pathogenic |
NM_003722.5(TP63):c.697A>G (p.Lys233Glu) |
single nucleotide variant |
Split-hand/foot malformation 4 [RCV000006904] |
Chr3:189864349 [GRCh38] Chr3:189582138 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) |
single nucleotide variant |
Split-hand/foot malformation 4 [RCV000006905] |
Chr3:189867905 [GRCh38] Chr3:189585694 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.953G>A (p.Arg318His) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006906]|Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006907]|TP63-Related Spectrum Disorders [RCV000548176]|not provided [RCV000478736] |
Chr3:189867903 [GRCh38] Chr3:189585692 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006908]|TP63-Related Spectrum Disorders [RCV000655484]|not provided [RCV000276670] |
Chr3:189868615 [GRCh38] Chr3:189586404 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) |
single nucleotide variant |
Hay-Wells syndrome of ectodermal dysplasia [RCV000006909] |
Chr3:189890795 [GRCh38] Chr3:189608584 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) |
single nucleotide variant |
Hay-Wells syndrome of ectodermal dysplasia [RCV000006910] |
Chr3:189890817 [GRCh38] Chr3:189608606 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.325-18456A>C |
single nucleotide variant |
ADULT syndrome [RCV000006911] |
Chr3:189789816 [GRCh38] Chr3:189507605 [GRCh37] Chr3:3q28 |
pathogenic |
TP63, 2-BP DEL, 1576TT |
deletion |
Limb-mammary syndrome [RCV000006912] |
Chr3:3q27 |
pathogenic |
TP63, 2-BP DEL, 1743AA |
deletion |
Limb-mammary syndrome [RCV000006913] |
Chr3:3q27 |
pathogenic |
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) |
single nucleotide variant |
ADULT syndrome [RCV000006914]|TP63-Related Spectrum Disorders [RCV000794231] |
Chr3:189868597 [GRCh38] Chr3:189586386 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006915]|not provided [RCV000326964] |
Chr3:189868639 [GRCh38] Chr3:189586428 [GRCh37] Chr3:3q28 |
pathogenic |
TP63, 1-BP DEL, 1709A |
deletion |
Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006916] |
Chr3:3q27 |
pathogenic |
TP63, 1-BP DEL, 1859A |
deletion |
Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006917] |
Chr3:3q27 |
pathogenic |
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) |
single nucleotide variant |
Hay-Wells syndrome of ectodermal dysplasia [RCV000006918]|Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006919] |
Chr3:189889478 [GRCh38] Chr3:189607267 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) |
single nucleotide variant |
Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006920] |
Chr3:189890874 [GRCh38] Chr3:189608663 [GRCh37] Chr3:3q28 |
pathogenic |
TP63, VAL114MET |
single nucleotide variant |
ADULT syndrome [RCV000006921] |
Chr3:3q27 |
pathogenic |
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) |
single nucleotide variant |
ADULT syndrome [RCV000194064]|Orofacial cleft 8 [RCV000006922] |
Chr3:189868641 [GRCh38] Chr3:189586430 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) |
single nucleotide variant |
ADULT syndrome [RCV000006923] |
Chr3:189868596 [GRCh38] Chr3:189586385 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.289C>T (p.Arg97Cys) |
single nucleotide variant |
Split-hand/foot malformation 4 [RCV000006924] |
Chr3:189738739 [GRCh38] Chr3:189456528 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) |
single nucleotide variant |
ADULT syndrome [RCV000006926]|Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000006925]|not provided [RCV000413620] |
Chr3:189866712 [GRCh38] Chr3:189584501 [GRCh37] Chr3:3q28 |
pathogenic |
TP63, 1-BP DEL, 1783C |
deletion |
Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006927] |
Chr3:3q27 |
pathogenic |
TP63, PRO127LEU |
single nucleotide variant |
ADULT syndrome [RCV000006928] |
Chr3:3q27 |
pathogenic |
TP63, 11-BP DUP, NT1716 |
duplication |
Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006929]|Ankyloblepharon-ectodermal defects, cleft lip/palate [RCV000006930] |
Chr3:3q27 |
pathogenic |
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 |
copy number loss |
Global developmental delay [RCV000051608]|See cases [RCV000051608] |
Chr3:185485849..198110178 [GRCh38] Chr3:185203637..197837049 [GRCh37] Chr3:186686331..199321446 [NCBI36] Chr3:3q27.2-29 |
pathogenic |
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 |
copy number loss |
Hypertelorism [RCV000051609]|See cases [RCV000051609] |
Chr3:186204253..192214251 [GRCh38] Chr3:185922042..191932040 [GRCh37] Chr3:187404736..193414734 [NCBI36] Chr3:3q27.2-28 |
pathogenic |
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051610]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051610]|See cases [RCV000051610] |
Chr3:187446231..195029133 [GRCh38] Chr3:187164019..194749862 [GRCh37] Chr3:188646713..196231151 [NCBI36] Chr3:3q27.3-29 |
pathogenic |
GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051611]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051611]|See cases [RCV000051611] |
Chr3:187446231..190839052 [GRCh38] Chr3:187164019..190556841 [GRCh37] Chr3:188646713..192039535 [NCBI36] Chr3:3q27.3-28 |
pathogenic |
GRCh38/hg38 3q28(chr3:188362559-189767088)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051612]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051612]|See cases [RCV000051612] |
Chr3:188362559..189767088 [GRCh38] Chr3:188080347..189484877 [GRCh37] Chr3:189563041..190967571 [NCBI36] Chr3:3q28 |
pathogenic |
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 |
copy number gain |
Abnormality of the heart [RCV000051725]|See cases [RCV000051725] |
Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051726]|See cases [RCV000051726] |
Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 |
copy number gain |
Abnormal facial shape [RCV000051736]|See cases [RCV000051736] |
Chr3:178411707..198110319 [GRCh38] Chr3:178129495..197837190 [GRCh37] Chr3:179612189..199321587 [NCBI36] Chr3:3q26.32-29 |
pathogenic |
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051738]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051738]|See cases [RCV000051738] |
Chr3:185920880..198110319 [GRCh38] Chr3:185638668..197837190 [GRCh37] Chr3:187121362..199321587 [NCBI36] Chr3:3q27.2-29 |
pathogenic |
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051739]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051739]|See cases [RCV000051739] |
Chr3:189265371..198110178 [GRCh38] Chr3:188983160..197837049 [GRCh37] Chr3:190465854..199321446 [NCBI36] Chr3:3q28-29 |
pathogenic |
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] |
Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29 |
pathogenic |
NM_003722.4(TP63):c.336G>A (p.Thr112=) |
single nucleotide variant |
Malignant melanoma [RCV000065968] |
Chr3:189808283 [GRCh38] Chr3:189526072 [GRCh37] Chr3:191008766 [NCBI36] Chr3:3q28 |
not provided |
NM_003722.4(TP63):c.496C>T (p.Pro166Ser) |
single nucleotide variant |
Malignant melanoma [RCV000065969] |
Chr3:189808443 [GRCh38] Chr3:189526232 [GRCh37] Chr3:191008926 [NCBI36] Chr3:3q28 |
not provided |
NM_003722.4(TP63):c.1497G>T (p.Met499Ile) |
single nucleotide variant |
Malignant melanoma [RCV000065970] |
Chr3:189886541 [GRCh38] Chr3:189604330 [GRCh37] Chr3:191087024 [NCBI36] Chr3:3q28 |
not provided |
NM_003722.4(TP63):c.1094C>T (p.Ser365Leu) |
single nucleotide variant |
Malignant melanoma [RCV000060783] |
Chr3:189868681 [GRCh38] Chr3:189586470 [GRCh37] Chr3:191069164 [NCBI36] Chr3:3q28 |
not provided |
NM_003722.4(TP63):c.1161G>A (p.Met387Ile) |
single nucleotide variant |
Malignant melanoma [RCV000060784] |
Chr3:189869355 [GRCh38] Chr3:189587144 [GRCh37] Chr3:191069838 [NCBI36] Chr3:3q28 |
not provided |
NM_003722.4(TP63):c.1825G>A (p.Glu609Lys) |
single nucleotide variant |
Malignant melanoma [RCV000060785] |
Chr3:189894284 [GRCh38] Chr3:189612073 [GRCh37] Chr3:191094767 [NCBI36] Chr3:3q28 |
not provided |
NM_003722.5(TP63):c.1837_1841del (p.Pro613fs) |
deletion |
Limb-mammary syndrome [RCV000174740] |
Chr3:189894296..189894300 [GRCh38] Chr3:189612085..189612089 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1037C>G (p.Ala346Gly) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000190455] |
Chr3:189868624 [GRCh38] Chr3:189586413 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.192-9_192-8del |
deletion |
not provided [RCV000514456]|not specified [RCV000177177] |
Chr3:189738633..189738634 [GRCh38] Chr3:189456422..189456423 [GRCh37] Chr3:3q28 |
benign|likely benign |
NM_003722.5(TP63):c.677G>A (p.Arg226His) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149048] |
Chr3:189864329 [GRCh38] Chr3:189582118 [GRCh37] Chr3:3q28 |
uncertain significance |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 |
copy number gain |
See cases [RCV000137106] |
Chr3:168167568..198110178 [GRCh38] Chr3:167885356..197837049 [GRCh37] Chr3:169368050..199321446 [NCBI36] Chr3:3q26.2-29 |
pathogenic |
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 |
copy number gain |
See cases [RCV000138009] |
Chr3:176439911..198118383 [GRCh38] Chr3:176157699..197845254 [GRCh37] Chr3:177640393..199329651 [NCBI36] Chr3:3q26.32-29 |
pathogenic|likely benign |
GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1 |
copy number loss |
See cases [RCV000137962] |
Chr3:186765148..194409416 [GRCh38] Chr3:186482937..194130145 [GRCh37] Chr3:187965631..195611434 [NCBI36] Chr3:3q27.3-29 |
pathogenic|likely benign |
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 |
copy number gain |
See cases [RCV000138662] |
Chr3:176168525..198118383 [GRCh38] Chr3:175886313..197845254 [GRCh37] Chr3:177369007..199329651 [NCBI36] Chr3:3q26.32-29 |
pathogenic |
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 |
copy number gain |
See cases [RCV000139435] |
Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 |
copy number gain |
See cases [RCV000140849] |
Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 |
copy number gain |
See cases [RCV000142310] |
Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 |
copy number loss |
See cases [RCV000142019] |
Chr3:181138664..192512023 [GRCh38] Chr3:180856452..192229812 [GRCh37] Chr3:182339146..193712506 [NCBI36] Chr3:3q26.33-28 |
pathogenic |
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 |
copy number gain |
See cases [RCV000143694] |
Chr3:166137209..198125115 [GRCh38] Chr3:165854997..197851986 [GRCh37] Chr3:167337691..199336383 [NCBI36] Chr3:3q26.1-29 |
pathogenic |
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1 |
copy number loss |
See cases [RCV000143464] |
Chr3:187434386..192142942 [GRCh38] Chr3:187152174..191860731 [GRCh37] Chr3:188634868..193343425 [NCBI36] Chr3:3q27.3-28 |
likely pathogenic |
GRCh38/hg38 3q28(chr3:189490327-189767254)x1 |
copy number loss |
See cases [RCV000143469] |
Chr3:189490327..189767254 [GRCh38] Chr3:189208116..189485043 [GRCh37] Chr3:190690810..190967737 [NCBI36] Chr3:3q28 |
uncertain significance |
GRCh38/hg38 3q28(chr3:189218502-190089843)x3 |
copy number gain |
See cases [RCV000143513] |
Chr3:189218502..190089843 [GRCh38] Chr3:188936291..189807632 [GRCh37] Chr3:190418985..191290326 [NCBI36] Chr3:3q28 |
likely benign|uncertain significance |
NC_000003.12:g.189608896A>T |
single nucleotide variant |
Lung cancer [RCV000093391] |
Chr3:189608896 [GRCh38] Chr3:189326685 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.435G>C (p.Ala145=) |
single nucleotide variant |
not specified [RCV000178196] |
Chr3:189808382 [GRCh38] Chr3:189526171 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.992+10G>A |
single nucleotide variant |
not specified [RCV000179861] |
Chr3:189867952 [GRCh38] Chr3:189585741 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1083G>A (p.Lys361=) |
single nucleotide variant |
not specified [RCV000180238] |
Chr3:189868670 [GRCh38] Chr3:189586459 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2123C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000356478]|Ectrodactyly [RCV000259318]|TP63-Related Spectrum Disorders [RCV000317222] |
Chr3:189896625 [GRCh38] Chr3:189614414 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*627T>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000356190]|Ectrodactyly [RCV000263418]|TP63-Related Spectrum Disorders [RCV000316297] |
Chr3:189895129 [GRCh38] Chr3:189612918 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.1963del (p.Arg655fs) |
deletion |
ADULT syndrome [RCV000195096] |
Chr3:189894422 [GRCh38] Chr3:189612211 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000399267]|Ectrodactyly [RCV000296599]|TP63-Related Spectrum Disorders [RCV000351504]|not specified [RCV000384210] |
Chr3:189889363 [GRCh38] Chr3:189607152 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.740A>G (p.His247Arg) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000206266]|TP63-Related Spectrum Disorders [RCV000821003]|not provided [RCV000312203] |
Chr3:189864392 [GRCh38] Chr3:189582181 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.956G>A (p.Arg319His) |
single nucleotide variant |
not provided [RCV000255404] |
Chr3:189867906 [GRCh38] Chr3:189585695 [GRCh37] Chr3:3q28 |
pathogenic|likely pathogenic |
GRCh37/hg19 3q28(chr3:189383139-189397549)x3 |
copy number gain |
See cases [RCV000449013] |
Chr3:189383139..189397549 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*2318G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000267704]|Ectrodactyly [RCV000322615]|TP63-Related Spectrum Disorders [RCV000363257] |
Chr3:189896820 [GRCh38] Chr3:189614609 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*2139G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000378823]|Ectrodactyly [RCV000320559]|TP63-Related Spectrum Disorders [RCV000267809] |
Chr3:189896641 [GRCh38] Chr3:189614430 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.1746+5G>A |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000551822] |
Chr3:189890887 [GRCh38] Chr3:189608676 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*379T>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000278232]|Ectrodactyly [RCV000319971]|TP63-Related Spectrum Disorders [RCV000374645] |
Chr3:189894881 [GRCh38] Chr3:189612670 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*1472A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000398330]|Ectrodactyly [RCV000335657]|TP63-Related Spectrum Disorders [RCV000278302] |
Chr3:189895974 [GRCh38] Chr3:189613763 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*803G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000328109]|Ectrodactyly [RCV000376786]|TP63-Related Spectrum Disorders [RCV000284738] |
Chr3:189895305 [GRCh38] Chr3:189613094 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.409G>C (p.Asp137His) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000286634]|Ectrodactyly [RCV000371721]|TP63-Related Spectrum Disorders [RCV000317111] |
Chr3:189808356 [GRCh38] Chr3:189526145 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2477T>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000399787]|Ectrodactyly [RCV000335427]|TP63-Related Spectrum Disorders [RCV000280323] |
Chr3:189896979 [GRCh38] Chr3:189614768 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.303G>A (p.Ser101=) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000280920]|Ectrodactyly [RCV000330162]|TP63-Related Spectrum Disorders [RCV000375324] |
Chr3:189738753 [GRCh38] Chr3:189456542 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*101C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000280842]|Ectrodactyly [RCV000398534]|TP63-Related Spectrum Disorders [RCV000336001] |
Chr3:189894603 [GRCh38] Chr3:189612392 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*1181T>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000320774]|Ectrodactyly [RCV000268038]|TP63-Related Spectrum Disorders [RCV000359141] |
Chr3:189895683 [GRCh38] Chr3:189613472 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1652+14A>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000268218]|Ectrodactyly [RCV000359446]|TP63-Related Spectrum Disorders [RCV000304755] |
Chr3:189889498 [GRCh38] Chr3:189607287 [GRCh37] Chr3:3q28 |
likely benign |
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 |
copy number gain |
See cases [RCV000240256] |
Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29 |
pathogenic |
NM_003722.5(TP63):c.1652+46G>A |
single nucleotide variant |
not specified [RCV000243764] |
Chr3:189889530 [GRCh38] Chr3:189607319 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*1939T>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000341965]|Ectrodactyly [RCV000380183]|TP63-Related Spectrum Disorders [RCV000283464] |
Chr3:189896441 [GRCh38] Chr3:189614230 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.1350-23T>C |
single nucleotide variant |
not specified [RCV000243865] |
Chr3:189886371 [GRCh38] Chr3:189604160 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.1350-34T>G |
single nucleotide variant |
not specified [RCV000248827] |
Chr3:189886360 [GRCh38] Chr3:189604149 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.992+4A>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000321352]|Ectrodactyly [RCV000283959]|TP63-Related Spectrum Disorders [RCV000378424] |
Chr3:189867946 [GRCh38] Chr3:189585735 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.-58A>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000369113]|Ectrodactyly [RCV000275011]|TP63-Related Spectrum Disorders [RCV000333154] |
Chr3:189631458 [GRCh38] Chr3:189349247 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.1587C>T (p.Leu529=) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000392092]|Ectrodactyly [RCV000311604]|TP63-Related Spectrum Disorders [RCV000357046]|not specified [RCV000251759] |
Chr3:189889419 [GRCh38] Chr3:189607208 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.876A>G (p.Pro292=) |
single nucleotide variant |
not specified [RCV000254361] |
Chr3:189866791 [GRCh38] Chr3:189584580 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.1655T>G (p.Phe552Cys) |
single nucleotide variant |
not provided [RCV000255981] |
Chr3:189890791 [GRCh38] Chr3:189608580 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.766+42G>A |
single nucleotide variant |
not specified [RCV000244831] |
Chr3:189864460 [GRCh38] Chr3:189582249 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.1349+40G>C |
single nucleotide variant |
not specified [RCV000247296] |
Chr3:189873035 [GRCh38] Chr3:189590824 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.1349+41G>A |
single nucleotide variant |
not specified [RCV000252252] |
Chr3:189873036 [GRCh38] Chr3:189590825 [GRCh37] Chr3:3q28 |
benign |
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 |
copy number loss |
See cases [RCV000240447] |
Chr3:186291045..191037240 [GRCh37] Chr3:3q27.3-28 |
pathogenic |
NM_003722.5(TP63):c.*45C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000348286]|Ectrodactyly [RCV000375399]|TP63-Related Spectrum Disorders [RCV000293324]|not specified [RCV000252369] |
Chr3:189894547 [GRCh38] Chr3:189612336 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.1130-22A>G |
single nucleotide variant |
not specified [RCV000242731] |
Chr3:189869302 [GRCh38] Chr3:189587091 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*2625A>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000271914]|Ectrodactyly [RCV000307203]|TP63-Related Spectrum Disorders [RCV000366482] |
Chr3:189897127 [GRCh38] Chr3:189614916 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*2345C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000268729]|Ectrodactyly [RCV000328512]|TP63-Related Spectrum Disorders [RCV000387433] |
Chr3:189896847 [GRCh38] Chr3:189614636 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.859C>T (p.Leu287=) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000318871]|Ectrodactyly [RCV000263662]|TP63-Related Spectrum Disorders [RCV000367664]|not specified [RCV000248159] |
Chr3:189866774 [GRCh38] Chr3:189584563 [GRCh37] Chr3:3q28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003722.5(TP63):c.1707G>A (p.Gly569=) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000327601]|Ectrodactyly [RCV000272480]|TP63-Related Spectrum Disorders [RCV000382220] |
Chr3:189890843 [GRCh38] Chr3:189608632 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*2636del |
deletion |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000367020]|Ectrodactyly [RCV000331015]|TP63-Related Spectrum Disorders [RCV000277144] |
Chr3:189897138 [GRCh38] Chr3:189614927 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.191+24T>C |
single nucleotide variant |
not specified [RCV000248270] |
Chr3:189737892 [GRCh38] Chr3:189455681 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.766+34T>G |
single nucleotide variant |
not specified [RCV000253254] |
Chr3:189864452 [GRCh38] Chr3:189582241 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*638C>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000266971]|Ectrodactyly [RCV000324576]|TP63-Related Spectrum Disorders [RCV000354629] |
Chr3:189895140 [GRCh38] Chr3:189612929 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*232T>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000362725]|Ectrodactyly [RCV000277648]|TP63-Related Spectrum Disorders [RCV000308001] |
Chr3:189894734 [GRCh38] Chr3:189612523 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.1644C>T (p.Ser548=) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000353698]|Ectrodactyly [RCV000298655]|TP63-Related Spectrum Disorders [RCV000392141] |
Chr3:189889476 [GRCh38] Chr3:189607265 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2002T>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000345031]|Ectrodactyly [RCV000314579]|TP63-Related Spectrum Disorders [RCV000407179] |
Chr3:189896504 [GRCh38] Chr3:189614293 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*854A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000344959]|Ectrodactyly [RCV000287662]|TP63-Related Spectrum Disorders [RCV000384453] |
Chr3:189895356 [GRCh38] Chr3:189613145 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*2155G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000377765]|Ectrodactyly [RCV000347526]|TP63-Related Spectrum Disorders [RCV000290360] |
Chr3:189896657 [GRCh38] Chr3:189614446 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.1374A>G (p.Ser458=) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000290920]|Ectrodactyly [RCV000345850]|TP63-Related Spectrum Disorders [RCV000385271] |
Chr3:189886418 [GRCh38] Chr3:189604207 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*1620T>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000339025]|Ectrodactyly [RCV000305259]|TP63-Related Spectrum Disorders [RCV000393881] |
Chr3:189896122 [GRCh38] Chr3:189613911 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.699A>G (p.Lys233=) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000341676]|Ectrodactyly [RCV000399114]|TP63-Related Spectrum Disorders [RCV000291632] |
Chr3:189864351 [GRCh38] Chr3:189582140 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*2426C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000334024]|Ectrodactyly [RCV000293115]|TP63-Related Spectrum Disorders [RCV000388520] |
Chr3:189896928 [GRCh38] Chr3:189614717 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*1464G>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000337429]|Ectrodactyly [RCV000398628]|TP63-Related Spectrum Disorders [RCV000294095] |
Chr3:189895966 [GRCh38] Chr3:189613755 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*1386T>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000295217]|Ectrodactyly [RCV000386060]|TP63-Related Spectrum Disorders [RCV000333797] |
Chr3:189895888 [GRCh38] Chr3:189613677 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*435C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000338960]|Ectrodactyly [RCV000400848]|TP63-Related Spectrum Disorders [RCV000310807] |
Chr3:189894937 [GRCh38] Chr3:189612726 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*966C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000400317]|Ectrodactyly [RCV000348349]|TP63-Related Spectrum Disorders [RCV000295741] |
Chr3:189895468 [GRCh38] Chr3:189613257 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*1959A>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000390086]|Ectrodactyly [RCV000310637]|TP63-Related Spectrum Disorders [RCV000340854] |
Chr3:189896461 [GRCh38] Chr3:189614250 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.*2216G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000297190]|Ectrodactyly [RCV000399947]|TP63-Related Spectrum Disorders [RCV000356664] |
Chr3:189896718 [GRCh38] Chr3:189614507 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.766+5G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000371099]|Ectrodactyly [RCV000312904]|TP63-Related Spectrum Disorders [RCV000406104] |
Chr3:189864423 [GRCh38] Chr3:189582212 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*541G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000371138]|Ectrodactyly [RCV000407115]|TP63-Related Spectrum Disorders [RCV000313150] |
Chr3:189895043 [GRCh38] Chr3:189612832 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*1702G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000365655]|Ectrodactyly [RCV000308702]|TP63-Related Spectrum Disorders [RCV000269682] |
Chr3:189896204 [GRCh38] Chr3:189613993 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000323844]|Ectrodactyly [RCV000355035]|TP63-Related Spectrum Disorders [RCV000259317] |
Chr3:189867849 [GRCh38] Chr3:189585638 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2544del |
deletion |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000400398]|Ectrodactyly [RCV000281489]|TP63-Related Spectrum Disorders [RCV000340710] |
Chr3:189897046 [GRCh38] Chr3:189614835 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*1217T>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000382554]|Ectrodactyly [RCV000271478]|TP63-Related Spectrum Disorders [RCV000325559] |
Chr3:189895719 [GRCh38] Chr3:189613508 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*235_*238del |
deletion |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000271698]|Ectrodactyly [RCV000301990]|TP63-Related Spectrum Disorders [RCV000366302] |
Chr3:189894737..189894740 [GRCh38] Chr3:189612526..189612529 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.399C>T (p.Pro133=) |
single nucleotide variant |
not specified [RCV000349119] |
Chr3:189808346 [GRCh38] Chr3:189526135 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*1846C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000387573]|Ectrodactyly [RCV000262621]|TP63-Related Spectrum Disorders [RCV000330726] |
Chr3:189896348 [GRCh38] Chr3:189614137 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1827A>G (p.Glu609=) |
single nucleotide variant |
not specified [RCV000316384] |
Chr3:189894286 [GRCh38] Chr3:189612075 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*295T>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000332651]|Ectrodactyly [RCV000274176]|TP63-Related Spectrum Disorders [RCV000387283] |
Chr3:189894797 [GRCh38] Chr3:189612586 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2009T>C |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000299204]|Ectrodactyly [RCV000274553]|TP63-Related Spectrum Disorders [RCV000366949] |
Chr3:189896511 [GRCh38] Chr3:189614300 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1027C>T (p.Arg343Trp) |
single nucleotide variant |
not provided [RCV000371222] |
Chr3:189868614 [GRCh38] Chr3:189586403 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.*1844dup |
duplication |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000277766]|Ectrodactyly [RCV000308482]|TP63-Related Spectrum Disorders [RCV000370196] |
Chr3:189896346 [GRCh38] Chr3:189614135 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*2719_*2720del |
deletion |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000372634]|Ectrodactyly [RCV000278081]|TP63-Related Spectrum Disorders [RCV000332134] |
Chr3:189897221..189897222 [GRCh38] Chr3:189615010..189615011 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.1653-9C>T |
single nucleotide variant |
not specified [RCV000366348] |
Chr3:189890780 [GRCh38] Chr3:189608569 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1994T>G (p.Met665Arg) |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000268805]|Ectrodactyly [RCV000333254]|TP63-Related Spectrum Disorders [RCV000387704] |
Chr3:189894453 [GRCh38] Chr3:189612242 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.-65C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000363695]|Ectrodactyly [RCV000308970]|TP63-Related Spectrum Disorders [RCV000268728] |
Chr3:189631451 [GRCh38] Chr3:189349240 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*1947dup |
duplication |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000320135]|Ectrodactyly [RCV000372092]|TP63-Related Spectrum Disorders [RCV000279814] |
Chr3:189896449 [GRCh38] Chr3:189614238 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*519C>T |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000407099]|Ectrodactyly [RCV000314402]|TP63-Related Spectrum Disorders [RCV000344612] |
Chr3:189895021 [GRCh38] Chr3:189612810 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2273A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000391853]|Ectrodactyly [RCV000302974]|TP63-Related Spectrum Disorders [RCV000357671] |
Chr3:189896775 [GRCh38] Chr3:189614564 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2205A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000350152]|Ectrodactyly [RCV000292865]|TP63-Related Spectrum Disorders [RCV000399131] |
Chr3:189896707 [GRCh38] Chr3:189614496 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*221G>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000341590]|Ectrodactyly [RCV000393859]|TP63-Related Spectrum Disorders [RCV000305389] |
Chr3:189894723 [GRCh38] Chr3:189612512 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2555dup |
duplication |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000305719]|Ectrodactyly [RCV000390956]|TP63-Related Spectrum Disorders [RCV000360516] |
Chr3:189897057 [GRCh38] Chr3:189614846 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.766+3A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000346509]|Ectrodactyly [RCV000407579]|TP63-Related Spectrum Disorders [RCV000307059] |
Chr3:189864421 [GRCh38] Chr3:189582210 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.325-18439A>G |
single nucleotide variant |
not specified [RCV000598112] |
Chr3:189789833 [GRCh38] Chr3:189507622 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*382A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000378481]|Ectrodactyly [RCV000335601]|TP63-Related Spectrum Disorders [RCV000286380] |
Chr3:189894884 [GRCh38] Chr3:189612673 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*1164A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000407849]|Ectrodactyly [RCV000360358]|TP63-Related Spectrum Disorders [RCV000298545] |
Chr3:189895666 [GRCh38] Chr3:189613455 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.4(TP63):c.*2789A>G |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000270897]|Ectrodactyly [RCV000315027]|TP63-Related Spectrum Disorders [RCV000362750] |
Chr3:189897291 [GRCh38] Chr3:189615080 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.*1130_*1133del |
deletion |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000407856]|Ectrodactyly [RCV000299278]|TP63-Related Spectrum Disorders [RCV000356858] |
Chr3:189895632..189895635 [GRCh38] Chr3:189613421..189613424 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.*2197C>A |
single nucleotide variant |
Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000289237]|Ectrodactyly [RCV000351156]|TP63-Related Spectrum Disorders [RCV000381182] |
Chr3:189896699 [GRCh38] Chr3:189614488 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.678C>T (p.Arg226=) |
single nucleotide variant |
not specified [RCV000592530] |
Chr3:189864330 [GRCh38] Chr3:189582119 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.851_852AG[1] (p.Ser285fs) |
microsatellite |
not provided [RCV000584992] |
Chr3:189866766..189866767 [GRCh38] Chr3:189584555..189584556 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.605A>G (p.Tyr202Cys) |
single nucleotide variant |
not provided [RCV000414612] |
Chr3:189864257 [GRCh38] Chr3:189582046 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.504C>T (p.Asn168=) |
single nucleotide variant |
not provided [RCV000730046] |
Chr3:189808451 [GRCh38] Chr3:189526240 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.739C>T (p.His247Tyr) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000851194]|TP63-Related Spectrum Disorders [RCV000559680] |
Chr3:189864391 [GRCh38] Chr3:189582180 [GRCh37] Chr3:3q28 |
pathogenic|likely pathogenic|uncertain significance |
NM_003722.5(TP63):c.290G>A (p.Arg97His) |
single nucleotide variant |
not provided [RCV000732570] |
Chr3:189738740 [GRCh38] Chr3:189456529 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1048A>G (p.Arg350Gly) |
single nucleotide variant |
not provided [RCV000413411] |
Chr3:189868635 [GRCh38] Chr3:189586424 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000534217]|not provided [RCV000413999] |
Chr3:189890863 [GRCh38] Chr3:189608652 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1682G>A (p.Cys561Tyr) |
single nucleotide variant |
not provided [RCV000414275] |
Chr3:189890818 [GRCh38] Chr3:189608607 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.942_944del (p.Gly315del) |
deletion |
not provided [RCV000414331] |
Chr3:189867892..189867894 [GRCh38] Chr3:189585681..189585683 [GRCh37] Chr3:3q28 |
likely pathogenic |
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 |
copy number gain |
See cases [RCV000447464] |
Chr3:158980631..197766890 [GRCh37] Chr3:3q25.32-29 |
pathogenic |
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 |
copy number gain |
See cases [RCV000446732] |
Chr3:181911498..197851986 [GRCh37] Chr3:3q26.33-29 |
pathogenic |
NM_003722.5(TP63):c.1177C>T (p.Arg393Ter) |
single nucleotide variant |
not provided [RCV000422385] |
Chr3:189869371 [GRCh38] Chr3:189587160 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.547C>T (p.Gln183Ter) |
single nucleotide variant |
not provided [RCV000422835] |
Chr3:189808494 [GRCh38] Chr3:189526283 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.517G>C (p.Gly173Arg) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000695697]|not provided [RCV000429171] |
Chr3:189808464 [GRCh38] Chr3:189526253 [GRCh37] Chr3:3q28 |
likely pathogenic|uncertain significance |
NM_003722.5(TP63):c.1805T>C (p.Leu602Pro) |
single nucleotide variant |
not specified [RCV000422824] |
Chr3:189894264 [GRCh38] Chr3:189612053 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.935G>A (p.Cys312Tyr) |
single nucleotide variant |
not provided [RCV000435995] |
Chr3:189867885 [GRCh38] Chr3:189585674 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.325-18471A>G |
single nucleotide variant |
not provided [RCV000437272] |
Chr3:189789801 [GRCh38] Chr3:189507590 [GRCh37] Chr3:3q28 |
pathogenic |
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 |
copy number gain |
See cases [RCV000448608] |
Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29 |
pathogenic |
NM_003722.5(TP63):c.1040G>T (p.Cys347Phe) |
single nucleotide variant |
not provided [RCV000481657] |
Chr3:189868627 [GRCh38] Chr3:189586416 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1922C>T (p.Ala641Val) |
single nucleotide variant |
not provided [RCV000485320] |
Chr3:189894381 [GRCh38] Chr3:189612170 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.1553G>A (p.Gly518Glu) |
single nucleotide variant |
not specified [RCV000498637] |
Chr3:189889385 [GRCh38] Chr3:189607174 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1820T>C (p.Leu607Pro) |
single nucleotide variant |
not provided [RCV000497551] |
Chr3:189894279 [GRCh38] Chr3:189612068 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.1013G>A (p.Arg338His) |
single nucleotide variant |
not specified [RCV000497878] |
Chr3:189868600 [GRCh38] Chr3:189586389 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.518G>T (p.Gly173Val) |
single nucleotide variant |
not provided [RCV000494181] |
Chr3:189808465 [GRCh38] Chr3:189526254 [GRCh37] Chr3:3q28 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_003722.5(TP63):c.500C>T (p.Ser167Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV000624261] |
Chr3:189808447 [GRCh38] Chr3:189526236 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.191+5G>C |
single nucleotide variant |
Muscular dystrophy [RCV000586900] |
Chr3:189737873 [GRCh38] Chr3:189455662 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.371T>C (p.Ile124Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000623982] |
Chr3:189808318 [GRCh38] Chr3:189526107 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1063G>A (p.Asp355Asn) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000655483] |
Chr3:189868650 [GRCh38] Chr3:189586439 [GRCh37] Chr3:3q28 |
pathogenic|uncertain significance |
NM_003722.5(TP63):c.1799G>A (p.Gly600Asp) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000655482] |
Chr3:189894258 [GRCh38] Chr3:189612047 [GRCh37] Chr3:3q28 |
likely pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_003722.5(TP63):c.2034G>A (p.Glu678=) |
single nucleotide variant |
not specified [RCV000604289] |
Chr3:189894493 [GRCh38] Chr3:189612282 [GRCh37] Chr3:3q28 |
likely benign |
NM_003722.5(TP63):c.698A>C (p.Lys233Thr) |
single nucleotide variant |
not provided [RCV000512665] |
Chr3:189864350 [GRCh38] Chr3:189582139 [GRCh37] Chr3:3q28 |
uncertain significance |
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 |
copy number gain |
not provided [RCV000682336] |
Chr3:182539234..197851986 [GRCh37] Chr3:3q26.33-29 |
pathogenic |
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 |
copy number loss |
not provided [RCV000682337] |
Chr3:182650681..191275809 [GRCh37] Chr3:3q26.33-28 |
pathogenic |
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 |
copy number gain |
not provided [RCV000682339] |
Chr3:184003967..197851986 [GRCh37] Chr3:3q27.1-29 |
pathogenic |
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 |
copy number gain |
not provided [RCV000682344] |
Chr3:187913567..197851986 [GRCh37] Chr3:3q28-29 |
pathogenic |
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 |
copy number gain |
not provided [RCV000682341] |
Chr3:186374365..197851986 [GRCh37] Chr3:3q27.3-29 |
pathogenic |
GRCh37/hg19 3q28(chr3:189594136-189687287)x1 |
copy number loss |
not provided [RCV000682345] |
Chr3:189594136..189687287 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1350-2A>G |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000699080] |
Chr3:189886392 [GRCh38] Chr3:189604181 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.1910G>T (p.Arg637Leu) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000704473] |
Chr3:189894369 [GRCh38] Chr3:189612158 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.487C>T (p.Pro163Ser) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000692960] |
Chr3:189808434 [GRCh38] Chr3:189526223 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.497C>A (p.Pro166His) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000693615] |
Chr3:189808444 [GRCh38] Chr3:189526233 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.694A>G (p.Lys232Glu) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000695736] |
Chr3:189864346 [GRCh38] Chr3:189582135 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1043C>T (p.Pro348Leu) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000705867] |
Chr3:189868630 [GRCh38] Chr3:189586419 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.698_700del (p.Lys233_Ala234delinsThr) |
deletion |
TP63-Related Spectrum Disorders [RCV000692164] |
Chr3:189864350..189864352 [GRCh38] Chr3:189582139..189582141 [GRCh37] Chr3:3q28 |
pathogenic|uncertain significance |
NM_003722.5(TP63):c.819_820dup (p.Gln274fs) |
duplication |
Orofacial cleft 8 [RCV000710017] |
Chr3:189866734..189866735 [GRCh38] Chr3:189584523..189584524 [GRCh37] Chr3:3q28 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
Single allele |
deletion |
Schizophrenia [RCV000754274] |
Chr3:187222939..194312782 [GRCh38] Chr3:3q27.3-29 |
likely pathogenic |
NC_000003.11:g.189427139_189585621dup |
duplication |
Primary amenorrhea [RCV000754409] |
Chr3:189709350..189867832 [GRCh38] Chr3:189427139..189585621 [GRCh37] Chr3:3q28 |
uncertain significance |
NC_000003.11:g.189427139_189588477dup |
duplication |
Primary amenorrhea [RCV000754410] |
Chr3:189709350..189870688 [GRCh38] Chr3:189427139..189588477 [GRCh37] Chr3:3q28 |
uncertain significance |
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 |
copy number gain |
not provided [RCV000742968] |
Chr3:173281266..197838262 [GRCh37] Chr3:3q26.31-29 |
pathogenic |
GRCh37/hg19 3q27.3-28(chr3:186018854-189514047)x1 |
copy number loss |
not provided [RCV000743033] |
Chr3:186018854..189514047 [GRCh37] Chr3:3q27.3-28 |
pathogenic |
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 |
copy number gain |
not provided [RCV000743037] |
Chr3:186374671..197838262 [GRCh37] Chr3:3q27.3-29 |
pathogenic |
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 |
copy number loss |
not provided [RCV000743049] |
Chr3:189101446..197838262 [GRCh37] Chr3:3q28-29 |
pathogenic |
GRCh37/hg19 3q28(chr3:189364424-189379493)x1 |
copy number loss |
not provided [RCV000743050] |
Chr3:189364424..189379493 [GRCh37] Chr3:3q28 |
benign |
NM_003722.5(TP63):c.1927C>T (p.Arg643Ter) |
single nucleotide variant |
not provided [RCV000760773] |
Chr3:189894386 [GRCh38] Chr3:189612175 [GRCh37] Chr3:3q28 |
likely pathogenic |
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 |
copy number gain |
See cases [RCV000790566] |
Chr3:188386566..197838262 [GRCh37] Chr3:3q28-29 |
pathogenic |
NM_003722.5(TP63):c.63-1G>C |
single nucleotide variant |
Orofacial cleft 8 [RCV000779404] |
Chr3:189737739 [GRCh38] Chr3:189455528 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.109C>T (p.Arg37Ter) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000791566] |
Chr3:189737786 [GRCh38] Chr3:189455575 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1780C>T (p.Arg594Ter) |
single nucleotide variant |
Premature ovarian insufficiency [RCV000766166] |
Chr3:189894239 [GRCh38] Chr3:189612028 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1794G>A (p.Trp598Ter) |
single nucleotide variant |
Premature ovarian insufficiency [RCV000766167] |
Chr3:189894253 [GRCh38] Chr3:189612042 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.935G>T (p.Cys312Phe) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000807212] |
Chr3:189867885 [GRCh38] Chr3:189585674 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1748A>T (p.Asp583Val) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000824374] |
Chr3:189894207 [GRCh38] Chr3:189611996 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.952C>T (p.Arg318Cys) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000805973] |
Chr3:189867902 [GRCh38] Chr3:189585691 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1350-75_1492del |
deletion |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000787270] |
Chr3:189886319..189886536 [GRCh38] Chr3:189604108..189604325 [GRCh37] Chr3:3q28 |
pathogenic |
NM_003722.5(TP63):c.1693T>G (p.Phe565Val) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000805566] |
Chr3:189890829 [GRCh38] Chr3:189608618 [GRCh37] Chr3:3q28 |
pathogenic |
NC_000003.11:g.(?_189582001)_(189590804_?)del |
deletion |
TP63-Related Spectrum Disorders [RCV000811347] |
Chr3:189864212..189873015 [GRCh38] Chr3:189582001..189590804 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) |
single nucleotide variant |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [RCV000850386] |
Chr3:189890821 [GRCh38] Chr3:189608610 [GRCh37] Chr3:3q28 |
likely pathogenic |
NM_003722.5(TP63):c.1042C>G (p.Pro348Ala) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000816938] |
Chr3:189868629 [GRCh38] Chr3:189586418 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.738C>G (p.Asn246Lys) |
single nucleotide variant |
TP63-Related Spectrum Disorders [RCV000809190] |
Chr3:189864390 [GRCh38] Chr3:189582179 [GRCh37] Chr3:3q28 |
uncertain significance |
NM_003722.5(TP63):c.927_929CAG[1] (p.Ser311del) |
microsatellite |
TP63-Related Spectrum Disorders [RCV000804668] |
Chr3:189867877..189867879 [GRCh38] Chr3:189585666..189585668 [GRCh37] Chr3:3q28 |
uncertain significance |