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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP63
Single nucleotide variant
(synonymous variant)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
(R7L)
Single nucleotide variant
(missense variant +1 more)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+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)
Limb-mammary syndrome
+7 more
GLikely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GBenign/Likely benign
TP63
(P286L +6 more)
Single nucleotide variant
(missense variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+7 more
GUncertain significance
TP63
(R21H)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 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)
TP63-Related Spectrum Disorders
+7 more
GUncertain significance
TP63
(A522T +4 more)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
+1 more
GUncertain significance
TP63
(R666H +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
+7 more
GUncertain significance
TP63
Single nucleotide variant
(synonymous variant)
ADULT syndrome
+7 more
GLikely benign
TP63
Single nucleotide variant
(intron variant)
Orofacial cleft 8
+7 more
GLikely benign
TP63
(D599H +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
ADULT syndrome
+7 more
GUncertain significance
TP63
(P17R)
Single nucleotide variant
(missense variant +1 more)
ADULT syndrome
+7 more
GUncertain significance
TP63
(R601Q +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
ADULT syndrome
+8 more
GConflicting classifications of pathogenicity
TP63
(R35Q +1 more)
Single nucleotide variant
(missense variant)
ADULT syndrome
+7 more
GUncertain significance
TP63
(S518del +4 more)
Microsatellite
(3 prime UTR variant +1 more)
ADULT syndrome
+7 more
GUncertain significance
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
(R495H +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+8 more
GUncertain significance
TP63
Single nucleotide variant
(synonymous variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
(G378V +4 more)
Single nucleotide variant
(missense variant +1 more)
ADULT syndrome
+1 more
GPathogenic/Likely pathogenic
TP63
(V173I +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
GUncertain significance
TP63
(T564M +4 more)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GUncertain significance
TP63
(T195M +3 more)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
+7 more
GUncertain significance
TP63
Single nucleotide variant
(intron variant)
TP63-Related Spectrum Disorders
+7 more
GLikely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
Limb-mammary syndrome
+8 more
GBenign/Likely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
not provided
+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)
not provided
+7 more
GLikely benign
TP63
Single nucleotide variant
(synonymous variant +1 more)
ADULT syndrome
+7 more
GLikely benign
TP63
(R97H +1 more)
Single nucleotide variant
(missense variant)
ADULT syndrome
+8 more
GUncertain significance
TP63
Single nucleotide variant
(intron variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+8 more
GBenign/Likely benign
TP63
(P511T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GBenign/Likely benign
TP63
Deletion
(intron variant)
TP63-Related Spectrum Disorders
+9 more
GBenign/Likely benign
TP63
(E609K +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
ADULT syndrome
+6 more
GUncertain significance
TP63
Single nucleotide variant
ADULT syndrome
GPathogenic
TP63
(R266Q +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GPathogenic/Likely pathogenic
TP63
(R337G +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TP63
Single nucleotide variant
ADULT syndrome
GPathogenic
TP63
(R337Q +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+1 more
GPathogenic/Likely pathogenic
TP63
(N6H)
Single nucleotide variant
(missense variant +1 more)
ADULT syndrome
GPathogenic
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