Total 10 pathogenic variants reported for Split hand-foot malformation 4

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003722.5(TP63):c.728G>A (p.Arg243Gln)	SNV Germline	Chr3:189864380	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders Condition: not provided Split hand-foot malformation 4	Criteria Provided Multiple Submitters No Conflicts	CA118335	rs_121908836	5 SubmittersRCV000006901 RCV000705452 RCV001804714 RCV002250454
NM_003722.5(TP63):c.697A>G (p.Lys233Glu)	SNV Germline	Chr3:189864349	Pathogenic	Split hand-foot malformation 4	No Assertion Criteria Provided	CA118337	rs_121908838	1 SubmittersRCV000006904
NM_003722.5(TP63):c.955C>T (p.Arg319Cys)	SNV Germline	Chr3:189867905	Pathogenic	Split hand-foot malformation 4 Condition: not provided TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA118338	rs_121908839	7 SubmittersRCV000006905 RCV001280776 RCV002512857 RCV003162215
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)	SNV Germline	Chr3:189868615	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided TP63-Related Spectrum Disorders Inborn genetic diseases Split hand-foot malformation 4 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA118340	rs_121908841	8 SubmittersRCV000006908 RCV000276670 RCV000655484 RCV001266717 RCV006261718 RCV005025018
NM_003722.5(TP63):c.956G>A (p.Arg319His)	SNV Germline	Chr3:189867906	Pathogenic	Condition: not provided TP63-Related Spectrum Disorders Split hand-foot malformation 4	Criteria Provided Multiple Submitters No Conflicts	CA10588353	rs_886039442	3 SubmittersRCV000255404 RCV002518757 RCV006547937
NM_003722.5(TP63):c.1061C>A (p.Ala354Glu)	SNV Germline	Chr3:189868648	Likely pathogenic	TP63-Related Spectrum Disorders Split hand-foot malformation 4	Criteria Provided Multiple Submitters No Conflicts	CA355755228	rs_1718026198	2 SubmittersRCV001049615 RCV002290573
NM_003722.5(TP63):c.881A>G (p.Gln294Arg)	SNV Unknown	Chr3:189866796	Likely pathogenic	Split hand-foot malformation 4	Criteria Provided Single Submitter	CA355754731	rs_2108801985	1 SubmittersRCV001729984
NM_003722.5(TP63):c.899C>T (p.Thr300Met)	SNV Germline	Chr3:189867849	Likely pathogenic	Split hand-foot malformation 4	Criteria Provided Single Submitter	CA355754860	rs_886058222	1 SubmittersRCV003228727
NM_003722.5(TP63):c.2032G>C (p.Glu678Gln)	SNV Germline	Chr3:189894491	Likely pathogenic	Split hand-foot malformation 4	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004771813