Total 5 pathogenic variants reported for Klippel-Feil syndrome 2, autosomal recessive 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter) SNV
Germline		 Chr17:43642011 Pathogenic Klippel-Feil syndrome 2, autosomal recessive No Assertion Criteria Provided
 rs_772798486

1 SubmittersRCV000032704
NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter) SNV
Germline		 Chr17:43661285 Pathogenic Klippel-Feil syndrome 2, autosomal recessive No Assertion Criteria Provided
 CA174982 rs_713993044

1 SubmittersRCV000149546
NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys) SNV
Germline		 Chr17:43643616 Likely pathogenic Klippel-Feil syndrome 2, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004764428