Total 12 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	Likely pathogenic	Langer mesomelic dysplasia syndrome Leri-Weill dyschondrosteosis Condition: not provided	Criteria Provided Single Submitter	CA212924	rs_137852557	2 SubmittersRCV000010555 RCV000010556 RCV004767002
NM_000451.4(SHOX):c.502C>T (p.Arg168Trp)	SNV Germline	ChrY:640836	Likely pathogenic	Langer mesomelic dysplasia syndrome Leri-Weill dyschondrosteosis Condition: not provided	Criteria Provided Single Submitter	CA212924	rs_137852557	2 SubmittersRCV000010555 RCV000010556 RCV004767002
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)	SNV Germline	ChrX:640842	Pathogenic	Leri-Weill dyschondrosteosis Langer mesomelic dysplasia syndrome	No Assertion Criteria Provided	CA128821	rs_397514461	1 SubmittersRCV000022887 RCV000022888
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)	SNV Germline	ChrY:640842	Pathogenic	Leri-Weill dyschondrosteosis Langer mesomelic dysplasia syndrome	No Assertion Criteria Provided	CA128821	rs_397514461	1 SubmittersRCV000022887 RCV000022888
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)	SNV Germline	ChrX:641031	Conflicting classifications of pathogenicity	Condition: not provided not specified SHOX-related short stature Langer mesomelic dysplasia syndrome Leri-Weill dyschondrosteosis	Criteria Provided Conflicting Classifications	CA10605861	rs_376330042	3 SubmittersRCV000344860 RCV002222476 RCV004796154
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)	SNV Germline	ChrY:641031	Conflicting classifications of pathogenicity	Condition: not provided not specified SHOX-related short stature Langer mesomelic dysplasia syndrome Leri-Weill dyschondrosteosis	Criteria Provided Conflicting Classifications	CA10605861	rs_376330042	3 SubmittersRCV000344860 RCV002222476 RCV004796154