"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TP63"[gene - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 809592	NM_003722.5(TP63):c.254C>T (p.Ala85Val)	TP63 (A85V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1335553	NM_001114980.2(TP63):c.2T>C (p.Met1Thr)	TP63 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 809593	NM_003722.5(TP63):c.394A>G (p.Ser132Gly)	TP63 (S132G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1695089	NM_003722.5(TP63):c.521C>T (p.Pro174Leu)	TP63 (P172L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654352	NM_003722.5(TP63):c.670G>A (p.Val224Ile)	TP63 (V130I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497709	NM_003722.5(TP63):c.678C>T (p.Arg226=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders +4 more	GConflicting classifications of pathogenicity
Select item 444621	NM_003722.5(TP63):c.698A>C (p.Lys233Thr)	TP63 (K233T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6527	NM_003722.5(TP63):c.727C>T (p.Arg243Trp)	TP63 (R243W +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GPathogenic
Select item 493381	NM_003722.5(TP63):c.853_854del (p.Ser285fs)	TP63 (S106fs +3 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1711583	NM_003722.5(TP63):c.934T>G (p.Cys312Gly)	TP63 (C133G +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 344386	NM_003722.5(TP63):c.992+4A>C	TP63	Single nucleotide variant (intron variant)	Limb-mammary syndrome +8 more	GBenign/Likely benign
Select item 1070564	NM_003722.5(TP63):c.1007G>A (p.Gly336Asp)	TP63 (G157D +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GPathogenic/Likely pathogenic
Select item 2654353	NM_003722.5(TP63):c.1296T>C (p.Ile432=)	TP63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298948	NM_003722.5(TP63):c.1350-6232G>A	TP63 (R389Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 259129	NM_003722.5(TP63):c.1587C>T (p.Leu529=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders +4 more	GBenign/Likely benign
Select item 1675940	NM_003722.5(TP63):c.1717_1719dup (p.Ile573dup)	TP63	Duplication (inframe_insertion +1 more)	not provided	GLikely pathogenic
Select item 344409	NM_003722.5(TP63):c.*1181T>C	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +3 more	GConflicting classifications of pathogenicity
Select item 344419	NM_003722.5(TP63):c.*1939T>G	TP63	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 8 +3 more	GConflicting classifications of pathogenicity
Select item 344421	NM_003722.5(TP63):c.*2002T>G	TP63	Single nucleotide variant (3 prime UTR variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +3 more	GBenign/Likely benign
Select item 344435	NM_003722.5(TP63):c.*2555dup	TP63	Duplication (3 prime UTR variant)	Ectrodactyly +3 more	GConflicting classifications of pathogenicity

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Items: 22