Total 5 pathogenic variants reported for Bamforth-Lazarus syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004473.4(FOXE1):c.194C>T (p.Ala65Val) SNV
Germline		 Chr9:97854108 Pathogenic Bamforth-Lazarus syndrome No Assertion Criteria Provided
 CA118578 rs_104894110

1 SubmittersRCV000007402
NM_004473.4(FOXE1):c.170G>A (p.Ser57Asn) SNV
Germline		 Chr9:97854084 Pathogenic Bamforth-Lazarus syndrome No Assertion Criteria Provided
 CA118579 rs_28937575

1 SubmittersRCV000007403
NM_004473.4(FOXE1):c.304C>T (p.Arg102Cys) SNV
Germline		 Chr9:97854218 Pathogenic Bamforth-Lazarus syndrome No Assertion Criteria Provided
 CA118580 rs_104894111

1 SubmittersRCV003151709
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) SNV
Germline		 Chr9:97854657 Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary, 4
Bamforth-Lazarus syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA204453 rs_538912281

4 SubmittersRCV000190467RCV000988238RCV003317142