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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP63
(R243W +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TP63
(R243Q +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic
TP63
(E174K +3 more)
Single nucleotide variant
(missense variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+1 more
GConflicting classifications of pathogenicity
TP63
(R318H +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic/Likely pathogenic
TP63
(R343W +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic
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