Total 6 pathogenic variants reported for Neonatal ichthyosis-sclerosing cholangitis syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) SNV
Germline		 Chr3:190322066 Pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome Criteria Provided
Single Submitter
 CA355758123 rs_773766654

1 SubmittersRCV001780515
NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter) SNV
Germline		 Chr3:190322188 Likely pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome Criteria Provided
Single Submitter
 CA355759000 rs_1402621591

1 SubmittersRCV003985973
NM_021101.5(CLDN1):c.89G>A (p.Trp30Ter) SNV
Germline		 Chr3:190322118 Pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome No Assertion Criteria Provided

1 SubmittersRCV005051216