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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP63
(N130S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TP63
(R319C +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic
TP63
(I145del +3 more)
Deletion
(inframe_deletion)
TP63-related disorder
+1 more
GLikely pathogenic
TP63
(R337Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TP63
(R476* +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Limb-mammary syndrome
+1 more
GLikely pathogenic
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