Total 20 pathogenic variants reported for Incontinentia pigmenti syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)	SNV Germline	ChrX:154564420	Conflicting classifications of pathogenicity	Incontinentia pigmenti syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA255887	rs_137853322	6 SubmittersRCV000012202 RCV001582474
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)	SNV Germline	ChrX:154564460	Pathogenic	Incontinentia pigmenti syndrome ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED	No Assertion Criteria Provided	CA121467	rs_137853321	1 SubmittersRCV000170521 RCV000012203
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)	SNV Germline	ChrX:154552186	Pathogenic	Incontinentia pigmenti syndrome Condition: not provided	Criteria Provided Single Submitter	CA255890	rs_137853323	2 SubmittersRCV000012205 RCV000256164
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)	SNV Germline	ChrX:154564418	Likely pathogenic	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED Incontinentia pigmenti syndrome Ectodermal dysplasia and immunodeficiency 1	Criteria Provided Single Submitter	CA121479	rs_137853327	2 SubmittersRCV000024285 RCV001172474 RCV004820819
NM_001099857.5(IKBKG):c.1117+5G>C	SNV Germline	ChrX:154564025	Likely pathogenic	Condition: not provided Incontinentia pigmenti syndrome ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED	Criteria Provided Single Submitter	CA658659077	rs_1557236796	2 SubmittersRCV000523987 RCV001172481 RCV001172480
NM_001099857.5(IKBKG):c.518+866C>T	SNV Germline	ChrX:154559516	Pathogenic	IMMUNODEFICIENCY 33, MALE-RESTRICTED Incontinentia pigmenti syndrome Condition: not provided	Criteria Provided Single Submitter	CA1139667923	rs_2071101767	2 SubmittersRCV000757923 RCV001172475 RCV006249677
NM_001099857.5(IKBKG):c.1117+1G>A	SNV Germline	ChrX:154564021	Pathogenic	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED Incontinentia pigmenti syndrome	No Assertion Criteria Provided	CA415218958	rs_2071161458	1 SubmittersRCV001172484 RCV001172485
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)	SNV Unknown	ChrX:154556335	Pathogenic	Incontinentia pigmenti syndrome	Criteria Provided Single Submitter	CA415210292	rs_2071063100	1 SubmittersRCV001199162
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)	SNV Germline	ChrX:154561722	Pathogenic/Likely pathogenic	Incontinentia pigmenti syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA415215288	rs_2071133474	2 SubmittersRCV001251338 RCV002307712
NM_001099857.5(IKBKG):c.523C>T (p.Arg175Trp)	SNV Germline	ChrX:154560411	Conflicting classifications of pathogenicity	Incontinentia pigmenti syndrome not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV005055249 RCV005435479
NM_001099857.5(IKBKG):c.574C>T (p.Gln192Ter)	SNV Germline	ChrX:154560462	Likely pathogenic	Incontinentia pigmenti syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005880674