Total 6 pathogenic variants reported for ADULT syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001114980.2(TP63):c.16A>C (p.Asn6His)	SNV Germline	Chr3:189789816	Pathogenic	ADULT syndrome	No Assertion Criteria Provided	CA340597	rs_113993963	1 SubmittersRCV000006911
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)	SNV Germline	Chr3:189868597	Pathogenic/Likely pathogenic	ADULT syndrome TP63-Related Spectrum Disorders Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340599	rs_113993967	3 SubmittersRCV000006914 RCV000794231 RCV001781195
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly)	SNV Germline	Chr3:189868596	Pathogenic	ADULT syndrome Condition: not provided	Criteria Provided Single Submitter	CA340600	rs_113993966	2 SubmittersRCV000006923 RCV001280741
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	SNV Germline	Chr3:189866712	Pathogenic/Likely pathogenic	ADULT syndrome Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided TP63-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA118348	rs_121908849	6 SubmittersRCV000006926 RCV000006925 RCV000413620 RCV001390108
NM_003722.5(TP63):c.1670G>T (p.Gly557Val)	SNV Germline	Chr3:189890806	Pathogenic/Likely pathogenic	TP63-Related Spectrum Disorders ADULT syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2108864735	2 SubmittersRCV001390109 RCV003136064
NM_003722.5(TP63):c.802G>A (p.Glu268Lys)	SNV Germline	Chr3:189866717	Conflicting classifications of pathogenicity	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ADULT syndrome Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Conflicting Classifications		rs_2108801803	2 SubmittersRCV001808011 RCV003154197