Total 4 pathogenic variants reported for Young syndrome
Single Nucleotide Variant (1)
Duplication (1)
Deletion (2)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_001271049.2(CFAP221):c.2318+1G>A
SNV
Germline
Chr2:119647051
Pathogenic/Likely pathogenic
Primary ciliary dyskinesia
Young syndrome
No Assertion Criteria Provided
CA348160191
rs_759274091
2 Submitters
RCV001849699
RCV005437954