"Ambry Genetics"[submitter] AND "TP63"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2254221	NM_003722.5(TP63):c.131C>T (p.Thr44Ile)	TP63 (T42I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521223	NM_003722.5(TP63):c.371T>C (p.Ile124Thr)	TP63 (I124T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3328236	NM_003722.5(TP63):c.431C>T (p.Thr144Met)	TP63 (T142M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521882	NM_003722.5(TP63):c.500C>T (p.Ser167Phe)	TP63 (S167F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2682400	NM_003722.5(TP63):c.587C>G (p.Thr196Ser)	TP63 (T102S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1955396	NM_003722.5(TP63):c.865C>T (p.Pro289Ser)	TP63 (P287S +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GUncertain significance
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 1386982	NM_003722.5(TP63):c.1111G>A (p.Gly371Ser)	TP63 (G192S +3 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GUncertain significance
Select item 2381786	NM_003722.5(TP63):c.1126C>T (p.Arg376Cys)	TP63 (R374C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2340787	NM_003722.5(TP63):c.1297G>C (p.Glu433Gln)	TP63 (E431Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616407	NM_003722.5(TP63):c.1315C>A (p.Gln439Lys)	TP63 (Q256K +6 more)	Single nucleotide variant (missense variant)	TP63-related disorder +1 more	GUncertain significance
Select item 1416793	NM_003722.5(TP63):c.1400A>G (p.Asn467Ser)	TP63 (N284S +6 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +1 more	GUncertain significance
Select item 2722243	NM_003722.5(TP63):c.1450C>A (p.Pro484Thr)	TP63 (P305T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1402802	NM_003722.5(TP63):c.1530G>T (p.Met510Ile)	TP63 (M331I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2486891	NM_003722.5(TP63):c.1853G>A (p.Arg618Gln)	TP63 (R439Q +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 2307752	NM_003722.5(TP63):c.2018A>G (p.Gln673Arg)	TP63 (Q673R +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance