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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP63
(R243W +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic
TP63
(R316C +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic
TP63
(R343W +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic
TP63
(P511T +4 more)
Single nucleotide variant
(missense variant +1 more)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+9 more
GBenign/Likely benign
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