Total 2 pathogenic variants reported for Fibrosis of extraocular muscles, congenital, 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005169.4(PHOX2A):c.217+1G>A SNV
Germline		 Chr11:72243787 Pathogenic Fibrosis of extraocular muscles, congenital, 2 No Assertion Criteria Provided
 rs_1590729541

1 SubmittersRCV000007240
NM_005169.4(PHOX2A):c.406-1G>A SNV
Germline		 Chr11:72240199 Pathogenic Fibrosis of extraocular muscles, congenital, 2 No Assertion Criteria Provided
 rs_1178102382

1 SubmittersRCV000007241