Total 36 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
Focal dermal hypoplasia
Anophthalmia-microphthalmia syndrome		 Criteria Provided
Single Submitter
 CA255489 rs_267606973

3 SubmittersRCV000011447RCV001857332RCV003483430
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) SNV
Germline		 ChrX:48511932 Pathogenic Focal dermal hypoplasia
Condition: not provided
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255493 rs_137852218

5 SubmittersRCV000011448RCV000599522RCV005887429
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 SubmittersRCV000011449RCV003234900
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

4 SubmittersRCV000491111RCV002436050
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
 CA412848587 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
 CA412841577 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
 CA412843109 rs_1602070472

1 SubmittersRCV001004914
NM_203475.3(PORCN):c.329+1G>A SNV
Germline		 ChrX:48511488 Likely pathogenic Focal dermal hypoplasia
Thyroid cancer, nonmedullary, 1		 No Assertion Criteria Provided
 CA412843351 rs_1602070594

2 SubmittersRCV001028047RCV005912403
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) SNV
Unknown		 ChrX:48514563 Likely pathogenic Focal dermal hypoplasia No Assertion Criteria Provided
 CA412847038 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
 CA412848917 rs_2061714949

5 SubmittersRCV000022872RCV003325557
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) SNV
Germline		 ChrX:48515771 Conflicting classifications of pathogenicity Focal dermal hypoplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA412848495 rs_2061711638

2 SubmittersRCV001290441RCV005094348
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro) SNV
Unknown		 ChrX:48514302 Likely pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter
 CA412846398 rs_2147130188

1 SubmittersRCV001726710
NM_203475.3(PORCN):c.374-2A>G SNV
Germline		 ChrX:48512324 Pathogenic Focal dermal hypoplasia No Assertion Criteria Provided
 CA412843668 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
 CA412849355 rs_2147139830

2 SubmittersRCV001823429RCV001869813
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter) SNV
Germline		 ChrX:48514247 Pathogenic Inborn genetic diseases
Focal dermal hypoplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412846020 rs_2519467926

4 SubmittersRCV002382633RCV003147767RCV006469777
NM_203475.3(PORCN):c.341T>G (p.Met114Arg) SNV
Germline		 ChrX:48511903 Likely pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter
 CA412843438 rs_2519447958

1 SubmittersRCV002468767
NM_203475.3(PORCN):c.887G>C (p.Arg296Pro) SNV
Germline		 ChrX:48514566 Conflicting classifications of pathogenicity Condition: not provided
Focal dermal hypoplasia		 Criteria Provided
Conflicting Classifications
 CA412847051 rs_2519471462

2 SubmittersRCV003013164RCV004765374
NM_203475.3(PORCN):c.137-1G>C SNV
Germline		 ChrX:48511294 Pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter
 CA412841707 rs_2519442928

1 SubmittersRCV003228718
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg) SNV
Germline		 ChrX:48512454 Pathogenic Focal dermal hypoplasia
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA412844406 rs_1602072227

2 SubmittersRCV003397201RCV005932754
NM_203475.3(PORCN):c.846-2A>G SNV
Germline		 ChrX:48514523 Pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter
 CA412846799 rs_2519471074

1 SubmittersRCV003397202
NM_203475.3(PORCN):c.1284+1G>A SNV
Germline		 ChrX:48517294 Likely pathogenic Focal dermal hypoplasia No Assertion Criteria Provided
 CA412849666 rs_2519492005

1 SubmittersRCV003444073
NM_203475.3(PORCN):c.532C>T (p.Gln178Ter) SNV
Germline		 ChrX:48512484 Pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter

1 SubmittersRCV004819957
NM_203475.3(PORCN):c.1383C>G (p.Gly461=) SNV
Germline		 ChrX:48520473 Likely pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter

1 SubmittersRCV005622853
NM_203475.3(PORCN):c.31C>T (p.Gln11Ter) SNV
Germline		 ChrX:48509851 Likely pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter

1 SubmittersRCV005628423
NM_203475.3(PORCN):c.373+1G>A SNV
Germline		 ChrX:48511936 Pathogenic Thyroid cancer, nonmedullary, 1
Focal dermal hypoplasia		 Criteria Provided
Single Submitter

2 SubmittersRCV006197304RCV006569315
NM_203475.3(PORCN):c.503G>T (p.Gly168Val) SNV
Germline		 ChrX:48512455 Likely pathogenic Focal dermal hypoplasia Criteria Provided
Single Submitter

1 SubmittersRCV006605130