U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP63
(I422T +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
GUncertain significance
TP63
(Q571R +4 more)
Single nucleotide variant
(missense variant +1 more)
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
GUncertain significance
TP63
Single nucleotide variant
(synonymous variant)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
(R7L)
Single nucleotide variant
(missense variant +1 more)
ADULT syndrome
+7 more
GBenign/Likely benign
TP63
Single nucleotide variant
(synonymous variant)
ADULT syndrome
+7 more
GLikely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
ADULT syndrome
+7 more
GBenign/Likely benign
TP63
(P286L +6 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+7 more
GUncertain significance
TP63
(R21H)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GUncertain significance
TP63
(T447S +6 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+7 more
GConflicting classifications of pathogenicity
TP63
(T536A +4 more)
Single nucleotide variant
(missense variant +1 more)
Rapp-Hodgkin ectodermal dysplasia syndrome
+7 more
GUncertain significance
TP63
(R666H +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GUncertain significance
TP63
Single nucleotide variant
(synonymous variant)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
Single nucleotide variant
(intron variant)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
(D599H +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GUncertain significance
TP63
(P17R)
Single nucleotide variant
(missense variant +1 more)
Limb-mammary syndrome
+7 more
GUncertain significance
TP63
(R601Q +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
TP63-Related Spectrum Disorders
+8 more
GConflicting classifications of pathogenicity
TP63
(R35Q +1 more)
Single nucleotide variant
(missense variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+7 more
GUncertain significance
TP63
(S518del +4 more)
Microsatellite
(3 prime UTR variant +1 more)
ADULT syndrome
+7 more
GUncertain significance
TP63
(R495H +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+8 more
GUncertain significance
TP63
Single nucleotide variant
(synonymous variant +1 more)
ADULT syndrome
+7 more
GLikely benign
TP63
(T564M +4 more)
Single nucleotide variant
(missense variant +1 more)
ADULT syndrome
+7 more
GUncertain significance
TP63
(T195M +3 more)
Single nucleotide variant
(missense variant +1 more)
ADULT syndrome
+7 more
GUncertain significance
TP63
Single nucleotide variant
(intron variant)
ADULT syndrome
+7 more
GLikely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
ADULT syndrome
+8 more
GBenign/Likely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
ADULT syndrome
+8 more
GLikely benign
TP63
Single nucleotide variant
(3 prime UTR variant +1 more)
ADULT syndrome
+7 more
GBenign/Likely benign
TP63
Single nucleotide variant
(synonymous variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+7 more
GLikely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
(R97H +1 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+8 more
GUncertain significance
TP63
Single nucleotide variant
(intron variant)
TP63-Related Spectrum Disorders
+8 more
GBenign/Likely benign
TP63
(P511T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+9 more
GBenign/Likely benign
TP63
Deletion
(intron variant)
not provided
+9 more
GBenign/Likely benign
TP63
(E609K +4 more)
Single nucleotide variant
(missense variant +1 more)
ADULT syndrome
+6 more
GUncertain significance
TP63
(H436fs +4 more)
Duplication
(3 prime UTR variant +1 more)
Rapp-Hodgkin ectodermal dysplasia syndrome
+1 more
GPathogenic
TP63
(I549T +4 more)
Single nucleotide variant
(intron variant +1 more)
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
+1 more
GPathogenic
TP63
(C561G +4 more)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
GLikely pathogenic
TP63
(L553F +4 more)
Single nucleotide variant
(missense variant +1 more)
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination