Total 27 pathogenic variants reported for Focal dermal hypoplasia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)	SNV Germline	ChrX:48511336	Pathogenic	Focal dermal hypoplasia Condition: not provided Anophthalmia-microphthalmia syndrome Focal dermal hypoplasia	Criteria Provided Single Submitter	CA255489	rs_267606973	3 SubmittersRCV000011447 RCV001857332 RCV003483430
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)	SNV Germline	ChrX:48511932	Pathogenic	Focal dermal hypoplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255493	rs_137852218	4 SubmittersRCV000011448 RCV000599522
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)	SNV Germline	ChrX:48511380	Pathogenic	Focal dermal hypoplasia Condition: not provided	Criteria Provided Single Submitter	CA255495	rs_137852219	2 SubmittersRCV000011449 RCV003234900
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)	SNV Germline	ChrX:48511426	Pathogenic	Focal dermal hypoplasia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA412842186	rs_1114167283	3 SubmittersRCV000491111 RCV002436050
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)	SNV Unknown	ChrX:48512598	Likely pathogenic	Focal dermal hypoplasia	No Assertion Criteria Provided	CA16043638	rs_1057519006	1 SubmittersRCV000414798
NM_203475.3(PORCN):c.1023+2T>A	SNV Germline	ChrX:48515795	Pathogenic	Focal dermal hypoplasia	No Assertion Criteria Provided		rs_1556975151	1 SubmittersRCV000664204
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter)	SNV Germline	ChrX:48509902	Pathogenic	Focal dermal hypoplasia	No Assertion Criteria Provided		rs_2061661896	1 SubmittersRCV001095366
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)	SNV Germline	ChrX:48511441	Pathogenic	Focal dermal hypoplasia	Criteria Provided Single Submitter		rs_1602070472	1 SubmittersRCV001004914
NM_203475.3(PORCN):c.329+1G>A	SNV Germline	ChrX:48511488	Likely pathogenic	Focal dermal hypoplasia	No Assertion Criteria Provided		rs_1602070594	1 SubmittersRCV001028047
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)	SNV Unknown	ChrX:48514563	Likely pathogenic	Focal dermal hypoplasia	No Assertion Criteria Provided		rs_2061701575	1 SubmittersRCV001264757
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)	SNV Germline	ChrX:48516067	Pathogenic	Focal dermal hypoplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2061714949	3 SubmittersRCV000022872 RCV003325557
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys)	SNV Unknown	ChrX:48515771	Likely pathogenic	Focal dermal hypoplasia	Criteria Provided Single Submitter		rs_2061711638	1 SubmittersRCV001290441
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)	SNV Unknown	ChrX:48514302	Likely pathogenic	Focal dermal hypoplasia	Criteria Provided Single Submitter		rs_2147130188	1 SubmittersRCV001726710
NM_203475.3(PORCN):c.374-2A>G	SNV Germline	ChrX:48512324	Pathogenic	Focal dermal hypoplasia	No Assertion Criteria Provided		rs_2147123496	1 SubmittersRCV001766049
NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)	SNV Germline	ChrX:48517195	Pathogenic/Likely pathogenic	Focal dermal hypoplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2147139830	2 SubmittersRCV001823429 RCV001869813
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)	SNV Germline	ChrX:48514247	Pathogenic	Inborn genetic diseases Focal dermal hypoplasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002382633 RCV003147767
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)	SNV Germline	ChrX:48511903	Likely pathogenic	Focal dermal hypoplasia	Criteria Provided Single Submitter			1 SubmittersRCV002468767
NM_203475.3(PORCN):c.137-1G>C	SNV Germline	ChrX:48511294	Pathogenic	Focal dermal hypoplasia	Criteria Provided Single Submitter			1 SubmittersRCV003228718
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)	SNV Germline	ChrX:48512454	Pathogenic	Focal dermal hypoplasia	Criteria Provided Single Submitter			1 SubmittersRCV003397201
NM_203475.3(PORCN):c.846-2A>G	SNV Germline	ChrX:48514523	Pathogenic	Focal dermal hypoplasia	Criteria Provided Single Submitter			1 SubmittersRCV003397202
NM_203475.3(PORCN):c.1284+1G>A	SNV Germline	ChrX:48517294	Likely pathogenic	Focal dermal hypoplasia	No Assertion Criteria Provided			1 SubmittersRCV003444073