ClinVar for MedGen (Select 343120) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233406	NM_003722.5(TP63):c.2032G>C (p.Glu678Gln)	TP63 (E499Q +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Split hand-foot malformation 4	GLikely pathogenic
Select item 2502308	NM_003722.5(TP63):c.899C>T (p.Thr300Met)	TP63 (T121M +3 more)	Single nucleotide variant (missense variant)	Split hand-foot malformation 4	GLikely pathogenic
Select item 1684042	NM_003722.5(TP63):c.563_571del (p.Lys188_Ala190del)	TP63	Deletion (inframe_deletion +1 more)	Split hand-foot malformation 4	GLikely pathogenic
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)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +7 more	GBenign/Likely benign
Select item 1597542	NM_003722.5(TP63):c.156A>G (p.Pro52=)	TP63	Single nucleotide variant (synonymous variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +7 more	GLikely benign
Select item 1595682	NM_003722.5(TP63):c.1575C>T (p.Leu525=)	TP63	Single nucleotide variant (synonymous variant +1 more)	Limb-mammary syndrome +7 more	GLikely benign
Select item 1535228	NM_003722.5(TP63):c.498C>T (p.Pro166=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders +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)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +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)	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)	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)	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +7 more	GUncertain significance
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)	Orofacial cleft 8 +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 +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)	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)	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 1314992	NM_003722.5(TP63):c.2021G>A (p.Arg674His)	TP63 (R495H +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1299512	NM_003722.5(TP63):c.881A>G (p.Gln294Arg)	TP63 (Q115R +3 more)	Single nucleotide variant (missense variant)	Split hand-foot malformation 4	GLikely pathogenic
Select item 1110153	NM_003722.5(TP63):c.1626G>A (p.Pro542=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders +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 846332	NM_003722.5(TP63):c.1061C>A (p.Ala354Glu)	TP63 (A352E +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GLikely pathogenic
Select item 794734	NM_003722.5(TP63):c.992+8G>A	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders +7 more	GLikely benign
Select item 779747	NM_003722.5(TP63):c.366G>A (p.Gln122=)	TP63	Single nucleotide variant (synonymous variant +1 more)	Limb-mammary syndrome +8 more	GBenign/Likely benign
Select item 767371	NM_003722.5(TP63):c.1599C>T (p.Ser533=)	TP63	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GLikely benign
Select item 707020	NM_003722.5(TP63):c.1788G>A (p.Ala596=)	TP63	Single nucleotide variant (3 prime UTR variant +1 more)	ADULT syndrome +7 more	GBenign/Likely benign
Select item 706677	NM_003722.5(TP63):c.714G>A (p.Thr238=)	TP63	Single nucleotide variant (synonymous variant)	not provided +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 596662	NM_003722.5(TP63):c.290G>A (p.Arg97His)	TP63 (R97H +1 more)	Single nucleotide variant (missense variant)	ADULT syndrome +8 more	GUncertain significance
Select item 344386	NM_003722.5(TP63):c.992+4A>C	TP63	Single nucleotide variant (intron variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +8 more	GBenign/Likely benign
Select item 286990	NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)	TP63 (P511T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GBenign/Likely benign
Select item 196365	NM_003722.5(TP63):c.192-9_192-8del	TP63	Deletion (intron variant)	TP63-Related Spectrum Disorders +9 more	GBenign/Likely benign
Select item 69817	NM_003722.5(TP63):c.1825G>A (p.Glu609Lys)	TP63 (E609K +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ADULT syndrome +6 more	GUncertain significance
Select item 6549	NM_003722.5(TP63):c.289C>T (p.Arg97Cys)	TP63 (R97C +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 6532	NM_003722.5(TP63):c.955C>T (p.Arg319Cys)	TP63 (R319C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 6531	NM_003722.5(TP63):c.697A>G (p.Lys233Glu)	TP63 (K233E +3 more)	Single nucleotide variant (missense variant)	Split hand-foot malformation 4	GPathogenic
Select item 6528	NM_003722.5(TP63):c.728G>A (p.Arg243Gln)	TP63 (R243Q +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GPathogenic

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Items: 41