"GeneDx"[submitter] AND "TP63"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 1187903	NM_001329964.2(TP63):c.56+33909C>T	LOC111162620, TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263190	NM_001329964.2(TP63):c.56+33942_56+33946del	LOC111162620, TP63	Deletion (intron variant)	not provided	GBenign
Select item 344379	NM_003722.5(TP63):c.-58A>T	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 2412940	NM_003722.5(TP63):c.19C>T (p.Arg7Trp)	TP63 (R7W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1204553	NM_003722.5(TP63):c.62+225C>T	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241847	NM_003722.5(TP63):c.62+24867G>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234137	NM_003722.5(TP63):c.62+24991T>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683868	NM_003722.5(TP63):c.62+25231C>T	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228444	NM_003722.5(TP63):c.62+25276G>C	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264861	NM_003722.5(TP63):c.62+49783A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225374	NM_003722.5(TP63):c.62+49875T>C	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327237	NM_003722.5(TP63):c.62+49918G>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233871	NM_003722.5(TP63):c.62+50004G>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177730	NM_003722.5(TP63):c.62+50063C>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234146	NM_003722.5(TP63):c.62+50167A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256918	NM_003722.5(TP63):c.63-30964A>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254122	NM_003722.5(TP63):c.63-6388del	TP63	Deletion (intron variant)	not provided	GBenign
Select item 1276115	NM_003722.5(TP63):c.63-6311C>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224575	NM_003722.5(TP63):c.63-6274G>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267398	NM_003722.5(TP63):c.63-6066G>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270627	NM_003722.5(TP63):c.63-336A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271522	NM_003722.5(TP63):c.63-149A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367750	NM_003722.5(TP63):c.190C>G (p.Gln64Glu)	TP63 (Q62E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236039	NM_003722.5(TP63):c.191+254C>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188518	NM_003722.5(TP63):c.191+275A>C	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214233	NM_003722.5(TP63):c.192-287A>G	TP63	Single nucleotide variant (intron variant)	not provided	GLikely 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 1285650	NM_003722.5(TP63):c.324+76T>C	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268379	NM_003722.5(TP63):c.324+166C>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181950	NM_003722.5(TP63):c.325-20764_325-20753del	TP63, LOC111162621	Deletion (intron variant)	not provided	GBenign
Select item 1261521	NM_003722.5(TP63):c.325-18800T>G	LOC111162621, TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278708	NM_003722.5(TP63):c.325-18743A>G	LOC111162621, TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222215	NM_003722.5(TP63):c.325-18607G>C	LOC111162621, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1208394	NM_003722.5(TP63):c.325-18571C>T	LOC111162621, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1241414	NM_003722.5(TP63):c.325-18543_325-18542insAG	LOC111162621, TP63	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
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 379663	NM_001114980.2(TP63):c.1A>G (p.Met1Val)	LOC111162621, TP63 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 449513	NM_001114980.2(TP63):c.26del (p.Gln9fs)	TP63 (Q9fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1177797	NM_003722.5(TP63):c.325-18252dup	TP63	Duplication (intron variant)	not provided	GLikely benign
Select item 1202029	NM_003722.5(TP63):c.325-18195A>G	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193256	NM_003722.5(TP63):c.325-268A>G	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290392	NM_003722.5(TP63):c.325-75_325-74del	TP63	Deletion (intron variant)	not provided	GBenign
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 1202722	NM_003722.5(TP63):c.374A>C (p.Gln125Pro)	TP63 (Q123P +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 1328849	NM_003722.5(TP63):c.383C>T (p.Ser128Phe)	TP63 (S126F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370542	NM_003722.5(TP63):c.425G>A (p.Ser142Asn)	TP63 (S140N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 571735	NM_003722.5(TP63):c.487C>T (p.Pro163Ser)	TP63 (P163S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 383835	NM_003722.5(TP63):c.517G>C (p.Gly173Arg)	TP63 (G173R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 430080	NM_003722.5(TP63):c.518G>T (p.Gly173Val)	TP63 (G173V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3343130	NM_003722.5(TP63):c.521C>A (p.Pro174Gln)	TP63 (P172Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 379830	NM_003722.5(TP63):c.547C>T (p.Gln183Ter)	TP63 (Q183* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1190738	NM_003722.5(TP63):c.566C>T (p.Ser189Leu)	TP63 (S187L +2 more)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 1279583	NM_003722.5(TP63):c.579+39T>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178305	NM_003722.5(TP63):c.579+158T>A	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1049484	NM_003722.5(TP63):c.580-11A>T	TP63	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2662432	NM_003722.5(TP63):c.580-3C>G	TP63	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 372786	NM_003722.5(TP63):c.605A>G (p.Tyr202Cys)	TP63 (Y202C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3369303	NM_003722.5(TP63):c.682A>G (p.Met228Val)	TP63 (M134V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 6527	NM_003722.5(TP63):c.727C>T (p.Arg243Trp)	TP63 (R243W +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	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
Select item 208163	NM_003722.5(TP63):c.740A>G (p.His247Arg)	TP63 (H247R +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GPathogenic
Select item 259132	NM_003722.5(TP63):c.766+34T>G	TP63	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 259133	NM_003722.5(TP63):c.766+42G>A	TP63	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1193285	NM_003722.5(TP63):c.766+104C>T	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189873	NM_003722.5(TP63):c.766+105G>A	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272622	NM_003722.5(TP63):c.766+294A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296334	NM_003722.5(TP63):c.767-338A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177997	NM_003722.5(TP63):c.767-333C>T	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183005	NM_003722.5(TP63):c.767-93T>C	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290454	NM_003722.5(TP63):c.767-40A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30348	NM_003722.5(TP63):c.797G>C (p.Arg266Pro)	TP63 (R172P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 6550	NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	TP63 (R266Q +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GPathogenic/Likely pathogenic
Select item 3363793	NM_003722.5(TP63):c.826G>T (p.Val276Leu)	TP63 (V182L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259134	NM_003722.5(TP63):c.859C>T (p.Leu287=)	TP63	Single nucleotide variant (synonymous variant)	Orofacial cleft 8 +4 more	GBenign
Select item 1290390	NM_003722.5(TP63):c.882+304G>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193434	NM_003722.5(TP63):c.882+321T>G	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707230	NM_003722.5(TP63):c.883-139A>G	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215430	NM_003722.5(TP63):c.883-88G>C	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3343492	NM_003722.5(TP63):c.912C>A (p.Tyr304Ter)	TP63 (Y125* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 379608	NM_003722.5(TP63):c.935G>A (p.Cys312Tyr)	TP63 (C312Y +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 373009	NM_003722.5(TP63):c.942_944del (p.Gly315del)	TP63 (G315del +3 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 650760	NM_003722.5(TP63):c.952C>T (p.Arg318Cys)	TP63 (R316C +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GPathogenic
Select item 6533	NM_003722.5(TP63):c.953G>A (p.Arg318His)	TP63 (R318H +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GPathogenic/Likely pathogenic
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 265276	NM_003722.5(TP63):c.956G>A (p.Arg319His)	TP63 (R319H +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GPathogenic
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 1236231	NM_003722.5(TP63):c.992+121C>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264717	NM_003722.5(TP63):c.992+299T>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251400	NM_003722.5(TP63):c.993-187A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429656	NM_003722.5(TP63):c.1009C>T (p.Arg337Ter)	TP63 (R158* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 431904	NM_003722.5(TP63):c.1013G>A (p.Arg338His)	TP63 (R338H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279913	NM_003722.5(TP63):c.1027C>T (p.Arg343Trp)	TP63 (R343W +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GPathogenic
Select item 6534	NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)	TP63 (R343Q +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +3 more	GPathogenic/Likely pathogenic
Select item 2579607	NM_003722.5(TP63):c.1039T>C (p.Cys347Arg)	TP63 (C168R +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 418520	NM_003722.5(TP63):c.1040G>T (p.Cys347Phe)	TP63 (C347F +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3253399	NM_003722.5(TP63):c.1042C>T (p.Pro348Ser)	TP63 (P169S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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