Total 5 pathogenic variants reported for Steatocystoma multiplex

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)	SNV Germline	Chr17:41624235	Pathogenic	Pachyonychia congenita 2 Condition: not provided Abnormality of the skin Pachyonychia congenita 2 Steatocystoma multiplex	Criteria Provided Multiple Submitters No Conflicts	CA216610	rs_59151893	8 SubmittersRCV000015689 RCV000056512 RCV001836709 RCV002496373
NM_000422.3(KRT17):c.274A>C (p.Asn92His)	SNV Germline	Chr17:41624236	Pathogenic	Steatocystoma multiplex Condition: not provided	No Assertion Criteria Provided	CA124153	rs_28928896	2 SubmittersRCV000015691 RCV000056509
NM_000422.3(KRT17):c.281G>A (p.Arg94His)	SNV Germline	Chr17:41624229	Pathogenic/Likely pathogenic	Steatocystoma multiplex Condition: not provided Pachyonychia congenita 2 Steatocystoma multiplex Pachyonychia congenita 2	Criteria Provided Multiple Submitters No Conflicts	CA124154	rs_28928897	6 SubmittersRCV000015692 RCV000056515 RCV000114414 RCV002496374
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)	SNV Germline	Chr17:41624230	Conflicting classifications of pathogenicity	Steatocystoma multiplex Condition: not provided Pachyonychia congenita 2	Criteria Provided Conflicting Classifications	CA124156	rs_58730926	7 SubmittersRCV000015694 RCV000056513 RCV000114415