ClinVar for MedGen (Select 347666) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3589090	NM_003722.5(TP63):c.2036G>A (p.Gly679Glu)	TP63 (G500E +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589089	NM_003722.5(TP63):c.2009A>G (p.Asn670Ser)	TP63 (N491S +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589088	NM_003722.5(TP63):c.1847T>G (p.Leu616Arg)	TP63 (L522R +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589087	NM_003722.5(TP63):c.1835C>A (p.Ser612Tyr)	TP63 (S610Y +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589086	NM_003722.5(TP63):c.1797G>A (p.Lys599=)	TP63	Single nucleotide variant (3 prime UTR variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589085	NM_003722.5(TP63):c.1615C>T (p.Pro539Ser)	TP63 (P360S +4 more)	Single nucleotide variant (missense variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589083	NM_003722.5(TP63):c.1565C>T (p.Thr522Ile)	TP63 (T428I +4 more)	Single nucleotide variant (missense variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589082	NM_003722.5(TP63):c.1534A>G (p.Met512Val)	TP63 (M508V +4 more)	Single nucleotide variant (missense variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589081	NM_003722.5(TP63):c.1528A>G (p.Met510Val)	TP63 (M331V +4 more)	Single nucleotide variant (missense variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589080	NM_003722.5(TP63):c.1525C>T (p.His509Tyr)	TP63 (H507Y +4 more)	Single nucleotide variant (missense variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589078	NM_003722.5(TP63):c.1362G>T (p.Gln454His)	TP63 (Q271H +6 more)	Single nucleotide variant (missense variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589077	NM_003722.5(TP63):c.1350-7T>A	TP63	Single nucleotide variant (intron variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589076	NM_003722.5(TP63):c.1350-6263G>A	TP63 (V473I +1 more)	Single nucleotide variant (missense variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589075	NM_003722.5(TP63):c.1160T>A (p.Met387Lys)	TP63 (M208K +6 more)	Single nucleotide variant (missense variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589074	NM_003722.5(TP63):c.1129+1G>A	TP63	Single nucleotide variant (splice donor variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GLikely pathogenic
Select item 3589073	NM_003722.5(TP63):c.809A>G (p.Asn270Ser)	TP63 (N268S +3 more)	Single nucleotide variant (missense variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589072	NM_003722.5(TP63):c.609C>T (p.Cys203=)	TP63	Single nucleotide variant (synonymous variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589071	NM_003722.5(TP63):c.543C>G (p.Phe181Leu)	TP63 (F179L +2 more)	Single nucleotide variant (missense variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589070	NM_003722.5(TP63):c.345dup (p.Leu116fs)	TP63 (L116fs +2 more)	Duplication (frameshift variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GLikely pathogenic
Select item 3589069	NM_003722.5(TP63):c.325-18411A>G	TP63	Single nucleotide variant (intron variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589067	NM_003722.5(TP63):c.161T>C (p.Val54Ala)	TP63 (V52A +1 more)	Single nucleotide variant (missense variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 3589066	NM_003722.5(TP63):c.131C>A (p.Thr44Lys)	TP63 (T44K +1 more)	Single nucleotide variant (missense variant)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
Select item 2969776	NM_003722.5(TP63):c.1142A>G (p.Asn381Ser)	TP63 (N202S +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +8 more	GUncertain significance
Select item 2889616	NM_003722.5(TP63):c.1223G>A (p.Arg408His)	TP63 (R225H +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +8 more	GUncertain significance
Select item 2870268	NM_003722.5(TP63):c.362A>G (p.Asp121Gly)	TP63 (D121G +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +8 more	GUncertain significance
Select item 2721206	NM_003722.5(TP63):c.1661C>T (p.Ala554Val)	TP63 (A554V +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 2632741	NM_003722.5(TP63):c.122C>T (p.Ser41Phe)	TP63 (S39F +1 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 2581046	NM_003722.5(TP63):c.2017C>T (p.Gln673Ter)	TP63 (Q494* +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	GUncertain significance
Select item 2421970	NM_003722.5(TP63):c.2040G>C (p.Glu680Asp)	TP63 (E501D +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders +8 more	GUncertain significance
Select item 2412940	NM_003722.5(TP63):c.19C>T (p.Arg7Trp)	TP63 (R7W)	Single nucleotide variant (missense variant +1 more)	Split hand-foot malformation 4 +9 more	GUncertain significance
Select item 2203760	NM_003722.5(TP63):c.925A>G (p.Asn309Asp)	TP63 (N309D +3 more)	Single nucleotide variant (missense variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	GLikely pathogenic
Select item 2179823	NM_003722.5(TP63):c.1518G>A (p.Met506Ile)	TP63 (M412I +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +8 more	GUncertain significance
Select item 2158990	NM_003722.5(TP63):c.1861A>G (p.Ser621Gly)	TP63 (S442G +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ADULT syndrome +8 more	GUncertain significance
Select item 2046177	NM_003722.5(TP63):c.1481C>T (p.Thr494Ile)	TP63 (T492I +6 more)	Single nucleotide variant (missense variant)	ADULT syndrome +8 more	GUncertain significance
Select item 1936783	NM_003722.5(TP63):c.1594C>G (p.Pro532Ala)	TP63 (P530A +4 more)	Single nucleotide variant (missense variant +1 more)	ADULT syndrome +8 more	GUncertain significance
Select item 1922803	NM_003722.5(TP63):c.679G>A (p.Ala227Thr)	TP63 (A133T +3 more)	Single nucleotide variant (missense variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1623182	NM_003722.5(TP63):c.654A>G (p.Pro218=)	TP63	Single nucleotide variant (synonymous variant)	Orofacial cleft 8 +7 more	GLikely benign
Select item 1601412	NM_003722.5(TP63):c.20G>T (p.Arg7Leu)	TP63 (R7L)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 1600102	NM_003722.5(TP63):c.1480A>G (p.Thr494Ala)	TP63 (T311A +6 more)	Single nucleotide variant (missense variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +8 more	GConflicting classifications of pathogenicity
Select item 1598420	NM_003722.5(TP63):c.1367C>T (p.Pro456Leu)	TP63 (P273L +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +9 more	GConflicting classifications of pathogenicity
Select item 1597542	NM_003722.5(TP63):c.156A>G (p.Pro52=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders +7 more	GLikely benign
Select item 1595682	NM_003722.5(TP63):c.1575C>T (p.Leu525=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders +7 more	GLikely benign
Select item 1561066	NM_003722.5(TP63):c.475C>T (p.Leu159Phe)	TP63 (L157F +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +8 more	GLikely benign
Select item 1535228	NM_003722.5(TP63):c.498C>T (p.Pro166=)	TP63	Single nucleotide variant (synonymous variant +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +7 more	GBenign/Likely benign
Select item 1522505	NM_003722.5(TP63):c.1394C>T (p.Pro465Leu)	TP63 (P286L +6 more)	Single nucleotide variant (missense variant)	Rapp-Hodgkin syndrome +7 more	GUncertain significance
Select item 1510128	NM_003722.5(TP63):c.62G>A (p.Arg21His)	TP63 (R21H)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1503085	NM_003722.5(TP63):c.1352C>G (p.Thr451Ser)	TP63 (T447S +6 more)	Single nucleotide variant (missense variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +7 more	GConflicting classifications of pathogenicity
Select item 1494162	NM_003722.5(TP63):c.1612A>G (p.Thr538Ala)	TP63 (T536A +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +7 more	GUncertain significance
Select item 1476128	NM_003722.5(TP63):c.2003G>A (p.Arg668His)	TP63 (R666H +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ADULT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1452532	NM_003722.5(TP63):c.1095G>A (p.Ser365=)	TP63	Single nucleotide variant (synonymous variant)	ADULT syndrome +7 more	GLikely benign
Select item 1436290	NM_003722.5(TP63):c.882+19A>T	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders +7 more	GLikely benign
Select item 1433359	NM_003722.5(TP63):c.1807G>C (p.Asp603His)	TP63 (D599H +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ADULT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1421645	NM_003722.5(TP63):c.50C>G (p.Pro17Arg)	TP63 (P17R)	Single nucleotide variant (missense variant +1 more)	ADULT syndrome +7 more	GUncertain significance
Select item 1412118	NM_003722.5(TP63):c.1814G>A (p.Arg605Gln)	TP63 (R601Q +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1398414	NM_003722.5(TP63):c.110G>A (p.Arg37Gln)	TP63 (R35Q +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +7 more	GUncertain significance
Select item 1385690	NM_003722.5(TP63):c.1583C>A (p.Pro528Gln)	TP63 (P434Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 1375700	NM_003722.5(TP63):c.1507+6_1507+7del	TP63	Microsatellite (intron variant)	TP63-Related Spectrum Disorders +8 more	GUncertain significance
Select item 1370798	NM_003722.5(TP63):c.1537G>C (p.Ala513Pro)	TP63 (A334P +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 1370657	NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del)	TP63 (S518del +4 more)	Microsatellite (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders +7 more	GUncertain significance
Select item 1344645	NM_003722.5(TP63):c.1012C>T (p.Arg338Cys)	TP63 (R159C +3 more)	Single nucleotide variant (missense variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	GLikely pathogenic
Select item 1333323	NM_003722.5(TP63):c.802G>A (p.Glu268Lys)	TP63 (E174K +3 more)	Single nucleotide variant (missense variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1314992	NM_003722.5(TP63):c.2021G>A (p.Arg674His)	TP63 (R495H +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +8 more	GUncertain significance
Select item 1110153	NM_003722.5(TP63):c.1626G>A (p.Pro542=)	TP63	Single nucleotide variant (synonymous variant +1 more)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GLikely benign
Select item 1042494	NM_003722.5(TP63):c.1697C>T (p.Thr566Met)	TP63 (T564M +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +7 more	GUncertain significance
Select item 1038841	NM_003722.5(TP63):c.1121C>T (p.Thr374Met)	TP63 (T195M +3 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +7 more	GUncertain significance
Select item 903554	NM_003722.5(TP63):c.1523C>T (p.Thr508Ile)	TP63 (T414I +4 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 903553	NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)	TP63 (A306T +6 more)	Single nucleotide variant (missense variant)	Orofacial cleft 8 +2 more	GConflicting classifications of pathogenicity
Select item 903493	NM_003722.5(TP63):c.688G>C (p.Val230Leu)	TP63 (V228L +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 903440	NM_003722.5(TP63):c.61C>T (p.Arg21Cys)	TP63 (R21C)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 903439	NM_003722.5(TP63):c.-3G>C	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 902949	NM_003722.5(TP63):c.*1377C>T	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 902948	NM_003722.5(TP63):c.*1343T>C	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 902899	NM_003722.5(TP63):c.*820C>T	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 902838	NM_003722.5(TP63):c.*471A>T	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 902594	NM_003722.5(TP63):c.-38T>C	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 902131	NM_003722.5(TP63):c.*1748A>G	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 902005	NM_003722.5(TP63):c.*802G>A	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 901670	NM_003722.5(TP63):c.1880G>A (p.Ser627Asn)	TP63 (S448N +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 901669	NM_003722.5(TP63):c.1877T>G (p.Val626Gly)	TP63 (V532G +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 901668	NM_003722.5(TP63):c.1834T>G (p.Ser612Ala)	TP63 (S608A +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 901611	NM_003722.5(TP63):c.1404A>G (p.Lys468=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 901496	NM_003722.5(TP63):c.*1248C>T	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 901188	NM_003722.5(TP63):c.*280G>A	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 901130	NM_003722.5(TP63):c.1761G>A (p.Leu587=)	TP63 (E325K +3 more)	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 901000	NM_003722.5(TP63):c.387G>A (p.Ser129=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 900929	NM_003722.5(TP63):c.-87C>T	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GUncertain significance
Select item 900520	NM_003722.5(TP63):c.*2162C>A	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 900398	NM_003722.5(TP63):c.*1437C>G	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 900343	NM_003722.5(TP63):c.*1169T>C	TP63	Single nucleotide variant (3 prime UTR variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GUncertain significance
Select item 900280	NM_003722.5(TP63):c.*759G>A	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 900279	NM_003722.5(TP63):c.*736T>G	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 899830	NM_003722.5(TP63):c.210G>C (p.Gln70His)	TP63 (Q68H +1 more)	Single nucleotide variant (missense variant)	ADULT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 899439	NM_003722.5(TP63):c.*2357C>A	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 899397	NM_003722.5(TP63):c.*2016A>G	TP63	Single nucleotide variant (3 prime UTR variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GBenign/Likely benign
Select item 802036	NM_003722.5(TP63):c.1528A>T (p.Met510Leu)	TP63 (M508L +4 more)	Single nucleotide variant (missense variant +1 more)	Limb-mammary syndrome +8 more	GUncertain significance
Select item 802035	NM_003722.5(TP63):c.1350-6315C>A	TP63 (C455* +1 more)	Single nucleotide variant (nonsense +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	GLikely benign
Select item 802034	NM_003722.5(TP63):c.325-18543_325-18542insAGAG	TP63, LOC111162621	Insertion (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 794734	NM_003722.5(TP63):c.992+8G>A	TP63	Single nucleotide variant (intron variant)	ADULT syndrome +7 more	GLikely benign
Select item 779747	NM_003722.5(TP63):c.366G>A (p.Gln122=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders +8 more	GBenign/Likely benign
Select item 771580	NM_003722.5(TP63):c.900G>A (p.Thr300=)	TP63	Single nucleotide variant (synonymous variant)	Orofacial cleft 8 +2 more	GConflicting classifications of pathogenicity

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