ClinVar for MedGen (Select 347666) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1922803	NM_003722.5(TP63):c.679G>A (p.Ala227Thr)	TP63 (A133T +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 1623182	NM_003722.5(TP63):c.654A>G (p.Pro218=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders +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 +8 more	GBenign/Likely benign
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 1535228	NM_003722.5(TP63):c.498C>T (p.Pro166=)	TP63	Single nucleotide variant (synonymous variant +1 more)	ADULT syndrome +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)	TP63-Related Spectrum Disorders +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)	Rapp-Hodgkin ectodermal dysplasia syndrome +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)	TP63-Related Spectrum Disorders +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)	Rapp-Hodgkin ectodermal dysplasia syndrome +7 more	GUncertain significance
Select item 1476128	NM_003722.5(TP63):c.2003G>A (p.Arg668His)	TP63 (R666H +4 more)	Single nucleotide variant (missense variant +1 more)	ADULT syndrome +7 more	GUncertain significance
Select item 1452532	NM_003722.5(TP63):c.1095G>A (p.Ser365=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders +7 more	GLikely benign
Select item 1436290	NM_003722.5(TP63):c.882+19A>T	TP63	Single nucleotide variant (intron variant)	ADULT syndrome +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)	TP63-Related Spectrum Disorders +7 more	GUncertain significance
Select item 1421645	NM_003722.5(TP63):c.50C>G (p.Pro17Arg)	TP63 (P17R)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +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)	ADULT 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)	ADULT syndrome +7 more	GUncertain significance
Select item 1370657	NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del)	TP63 (S518del +4 more)	Microsatellite (3 prime UTR variant +1 more)	ADULT syndrome +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)	TP63-related disorder +8 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)	ADULT syndrome +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)	ADULT syndrome +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)	TP63-Related Spectrum Disorders +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 disorder +3 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)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 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)	TP63-Related Spectrum Disorders +1 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)	ADULT syndrome +8 more	GBenign/Likely benign
Select item 771580	NM_003722.5(TP63):c.900G>A (p.Thr300=)	TP63	Single nucleotide variant (synonymous variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 767371	NM_003722.5(TP63):c.1599C>T (p.Ser533=)	TP63	Single nucleotide variant (synonymous variant +1 more)	ADULT syndrome +9 more	GLikely benign
Select item 729808	NM_003722.5(TP63):c.992+9C>T	TP63	Single nucleotide variant (intron variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 725955	NM_003722.5(TP63):c.84T>G (p.His28Gln)	TP63 (H26Q +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 707020	NM_003722.5(TP63):c.1788G>A (p.Ala596=)	TP63	Single nucleotide variant (3 prime UTR variant +1 more)	TP63-related disorder +8 more	GBenign/Likely benign
Select item 706677	NM_003722.5(TP63):c.714G>A (p.Thr238=)	TP63	Single nucleotide variant (synonymous variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +7 more	GLikely benign
Select item 706674	NM_003722.5(TP63):c.402T>C (p.Tyr134=)	TP63	Single nucleotide variant (synonymous variant +1 more)	ADULT syndrome +7 more	GLikely benign
Select item 689635	NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)	TP63 (L383P +4 more)	Single nucleotide variant (missense variant +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	GLikely pathogenic
Select item 635754	NM_003722.5(TP63):c.1350-75_1492del	TP63	Deletion (splice acceptor variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	GPathogenic
Select item 632415	NM_003722.5(TP63):c.63-1G>C	TP63	Single nucleotide variant (splice acceptor variant)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 596662	NM_003722.5(TP63):c.290G>A (p.Arg97His)	TP63 (R97H +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +8 more	GUncertain significance
Select item 594695	NM_003722.5(TP63):c.504C>T (p.Asn168=)	TP63	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 497709	NM_003722.5(TP63):c.678C>T (p.Arg226=)	TP63	Single nucleotide variant (synonymous variant)	Orofacial cleft 8 +4 more	GConflicting classifications of pathogenicity
Select item 478110	NM_003722.5(TP63):c.739C>T (p.His247Tyr)	TP63 (H247Y +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GPathogenic/Likely pathogenic
Select item 344436	NM_003722.5(TP63):c.*2625A>T	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 344433	NM_003722.5(TP63):c.*2477T>G	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 344432	NM_003722.5(TP63):c.*2426C>T	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GConflicting classifications of pathogenicity
Select item 344431	NM_003722.5(TP63):c.*2345C>T	TP63	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 344430	NM_003722.5(TP63):c.*2318G>A	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GBenign/Likely benign
Select item 344429	NM_003722.5(TP63):c.*2273A>G	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 344428	NM_003722.5(TP63):c.*2216G>A	TP63	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 344427	NM_003722.5(TP63):c.*2205A>G	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 344426	NM_003722.5(TP63):c.*2197C>A	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 344425	NM_003722.5(TP63):c.*2155G>A	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 344424	NM_003722.5(TP63):c.*2139G>A	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GBenign/Likely benign
Select item 344423	NM_003722.5(TP63):c.*2123C>T	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GBenign/Likely benign
Select item 344422	NM_003722.5(TP63):c.*2009T>C	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 344421	NM_003722.5(TP63):c.*2002T>G	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +3 more	GBenign/Likely benign
Select item 344420	NM_003722.5(TP63):c.*1959A>T	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 344419	NM_003722.5(TP63):c.*1939T>G	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 344417	NM_003722.5(TP63):c.*1846C>T	TP63	Single nucleotide variant (3 prime UTR variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GUncertain significance
Select item 344415	NM_003722.5(TP63):c.*1702G>A	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 344414	NM_003722.5(TP63):c.*1620T>C	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GBenign/Likely benign
Select item 344413	NM_003722.5(TP63):c.*1472A>G	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 344412	NM_003722.5(TP63):c.*1464G>T	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GBenign/Likely benign
Select item 344411	NM_003722.5(TP63):c.*1386T>C	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GBenign
Select item 344410	NM_003722.5(TP63):c.*1217T>C	TP63	Single nucleotide variant (3 prime UTR variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GUncertain significance
Select item 344409	NM_003722.5(TP63):c.*1181T>C	TP63	Single nucleotide variant (3 prime UTR variant)	TP63-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 344408	NM_003722.5(TP63):c.*1164A>G	TP63	Single nucleotide variant (3 prime UTR variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GUncertain significance
Select item 344406	NM_003722.5(TP63):c.*966C>T	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +2 more	GUncertain significance

<< First< Prev

Page of 2