Total 4 pathogenic variants reported for Mesoaxial synostotic syndactyly with phalangeal reduction 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001164405.2(BHLHA9):c.211A>G (p.Asn71Asp) SNV
Germline		 Chr17:1270774 Pathogenic Mesoaxial synostotic syndactyly with phalangeal reduction No Assertion Criteria Provided
 CA211910 rs_672601337

2 SubmittersRCV000149486
NM_001164405.2(BHLHA9):c.218G>C (p.Arg73Pro) SNV
Germline		 Chr17:1270781 Likely pathogenic Mesoaxial synostotic syndactyly with phalangeal reduction Criteria Provided
Single Submitter
 CA211912 rs_672601338

3 SubmittersRCV000149487
NM_001164405.2(BHLHA9):c.224G>T (p.Arg75Leu) SNV
Germline		 Chr17:1270787 Pathogenic Mesoaxial synostotic syndactyly with phalangeal reduction No Assertion Criteria Provided
 CA211914 rs_672601339

2 SubmittersRCV000149488
NM_001164405.2(BHLHA9):c.218G>T (p.Arg73Leu) SNV
Germline		 Chr17:1270781 Likely pathogenic Mesoaxial synostotic syndactyly with phalangeal reduction Criteria Provided
Single Submitter

1 SubmittersRCV003990948