Total 10 pathogenic variants reported for Langer mesomelic dysplasia syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) SNV
Germline		 ChrX:640836 Pathogenic Langer mesomelic dysplasia syndrome
Leri-Weill dyschondrosteosis		 No Assertion Criteria Provided
 CA212924 rs_137852557

1 SubmittersRCV000010555RCV000010556
NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) SNV
Germline		 ChrY:640836 Pathogenic Langer mesomelic dysplasia syndrome
Leri-Weill dyschondrosteosis		 No Assertion Criteria Provided
 CA212924 rs_137852557

1 SubmittersRCV000010555RCV000010556
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) SNV
Germline		 ChrX:640842 Pathogenic Langer mesomelic dysplasia syndrome
Leri-Weill dyschondrosteosis		 No Assertion Criteria Provided
 CA128821 rs_397514461

1 SubmittersRCV000022888RCV000022887
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) SNV
Germline		 ChrY:640842 Pathogenic Langer mesomelic dysplasia syndrome
Leri-Weill dyschondrosteosis		 No Assertion Criteria Provided
 CA128821 rs_397514461

1 SubmittersRCV000022888RCV000022887