Total 11 pathogenic variants reported for Ichthyosis bullosa of Siemens

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp)	SNV Germline	Chr12:52646748	Pathogenic	Ichthyosis bullosa of Siemens Condition: not provided	No Assertion Criteria Provided	CA120290	rs_137852628	2 SubmittersRCV000009893 RCV000056533
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)	SNV Germline	Chr12:52646750	Pathogenic	Ichthyosis bullosa of Siemens Exfoliative ichthyosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA120291	rs_137852629	5 SubmittersRCV000009894 RCV000009895 RCV000056532
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro)	SNV Germline	Chr12:52651601	Pathogenic	Ichthyosis bullosa of Siemens	No Assertion Criteria Provided	CA120292	rs_57510142	1 SubmittersRCV000009896
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro)	SNV Germline	Chr12:52646774	Pathogenic	Ichthyosis bullosa of Siemens Condition: not provided	No Assertion Criteria Provided	CA120293	rs_137852630	2 SubmittersRCV000009897 RCV000056529
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr)	SNV Germline	Chr12:52651587	Pathogenic	Ichthyosis bullosa of Siemens Condition: not provided	No Assertion Criteria Provided	CA120294	rs_137852631	2 SubmittersRCV000009898 RCV000056538
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys)	SNV Germline	Chr12:52646783	Pathogenic	Ichthyosis bullosa of Siemens Condition: not provided	No Assertion Criteria Provided	CA120295	rs_56829062	2 SubmittersRCV000009899 RCV000056527
NM_000423.3(KRT2):c.556A>G (p.Asn186Asp)	SNV Germline	Chr12:52651587	Pathogenic	Ichthyosis bullosa of Siemens	No Assertion Criteria Provided	CA120296	rs_137852631	1 SubmittersRCV000009900
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys)	SNV Germline	Chr12:52651585	Pathogenic	Ichthyosis bullosa of Siemens Condition: not provided	Criteria Provided Single Submitter	CA120297	rs_137852632	3 SubmittersRCV000009901 RCV000056539
NM_000423.3(KRT2):c.536G>A (p.Arg179His)	SNV Germline	Chr12:52651607	Conflicting classifications of pathogenicity	Ichthyosis bullosa of Siemens Condition: not provided	Criteria Provided Conflicting Classifications	CA6585819	rs_202243677	2 SubmittersRCV000370371 RCV000434387
NM_000423.3(KRT2):c.1478G>T (p.Gly493Val)	SNV Germline	Chr12:52645561	Conflicting classifications of pathogenicity	Ichthyosis bullosa of Siemens Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6585455	rs_374913826	2 SubmittersRCV000386850 RCV002520822
NM_000423.3(KRT2):c.557A>G (p.Asn186Ser)	SNV Unknown	Chr12:52651586	Likely pathogenic	Ichthyosis bullosa of Siemens	Criteria Provided Single Submitter			1 SubmittersRCV004586429