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Links from MedGen

Items: 1 to 100 of 124

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)
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
(T414I +4 more)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
(A306T +6 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
TP63
(V228L +3 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
TP63
(R21C)
Single nucleotide variant
(missense variant +1 more)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
LOC111162620, TP63
Single nucleotide variant
(5 prime UTR variant +1 more)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign/Likely benign
LOC111162620, TP63
Single nucleotide variant
(5 prime UTR variant +1 more)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
(S448N +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
(V532G +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
TP63-Related Spectrum Disorders
+3 more
GConflicting classifications of pathogenicity
TP63
(S608A +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(synonymous variant)
TP63-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
(E325K +3 more)
Single nucleotide variant
(synonymous variant +1 more)
TP63-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(synonymous variant +1 more)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GConflicting classifications of pathogenicity
LOC111162620, TP63
Single nucleotide variant
(5 prime UTR variant +1 more)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
(Q68H +1 more)
Single nucleotide variant
(missense variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GBenign/Likely benign
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)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(synonymous variant +1 more)
ADULT syndrome
+8 more
GLikely benign
TP63
Single nucleotide variant
(intron variant)
TP63-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
TP63
(H26Q +1 more)
Single nucleotide variant
(missense variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(splice acceptor variant)
TP63-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
TP63
(R97H +1 more)
Single nucleotide variant
(missense variant)
TP63-Related Spectrum Disorders
+8 more
GUncertain significance
TP63
Single nucleotide variant
(synonymous variant +1 more)
TP63-Related Spectrum Disorders
+3 more
GConflicting classifications of pathogenicity
TP63
(Q274fs +3 more)
Duplication
(frameshift variant)
Orofacial cleft 8
GPathogenic
TP63
Single nucleotide variant
(synonymous variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+3 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(3 prime UTR variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign
TP63
Single nucleotide variant
(3 prime UTR variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TP63
Single nucleotide variant
(3 prime UTR variant)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GBenign
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GBenign/Likely benign
TP63
Single nucleotide variant
(3 prime UTR variant)
Orofacial cleft 8
+2 more
GUncertain significance
TP63
Single nucleotide variant
(3 prime UTR variant)
TP63-Related Spectrum Disorders
+2 more
GUncertain significance
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