Total 130 pathogenic variants reported for Metaphyseal chondrodysplasia, McKusick type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NR_003051.4(RMRP):n.264G>T SNV
Germline		 Chr9:35657756 Pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Metaphyseal dysplasia without hypotrichosis
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257181 rs_727502774

4 SubmittersRCV000015277RCV001207690RCV002496369
NR_003051.3(RMRP):n.64C>T SNV
Germline		 Chr9:35657955 Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274361 rs_786204684

9 SubmittersRCV000169492RCV000763614RCV000794299RCV001725132
NR_003051.3(RMRP):n.146C>T SNV
Germline		 Chr9:35657873 Conflicting classifications of pathogenicity Condition: not provided
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia		 Criteria Provided
Conflicting Classifications
 CA5045836 rs_757576534

3 SubmittersRCV000423534RCV000667121RCV000822579
NR_003051.3(RMRP):n.147G>A SNV
Germline		 Chr9:35657872 Pathogenic Condition: not provided
Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5045835 rs_753874439

6 SubmittersRCV000423744RCV000549969RCV000666251RCV001563660RCV002488899
NR_003051.4(RMRP):n.52C>T SNV
Germline		 Chr9:35657968 Conflicting classifications of pathogenicity Condition: not provided
Metaphyseal chondrodysplasia, McKusick type
not specified
Anauxetic dysplasia		 Criteria Provided
Conflicting Classifications
 CA16618856 rs_1064793373

5 SubmittersRCV000487375RCV000669352RCV001844172RCV001851143
NR_003051.4(RMRP):n.149C>T SNV
Germline		 Chr9:35657871 Likely pathogenic Condition: not provided
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Single Submitter
 CA464450698 rs_1085307765

2 SubmittersRCV000490106RCV000670275
NR_003051.4(RMRP):n.129G>C SNV
Germline		 Chr9:35657891 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Condition: not provided
not specified
RMRP-related disorder		 Criteria Provided
Conflicting Classifications
 CA5045839 rs_74810894

6 SubmittersRCV001271383RCV000535218RCV002060322RCV001726225RCV001824821RCV003409793
NR_003051.4(RMRP):n.244A>G SNV
Germline		 Chr9:35657776 Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA192745540 rs_551450545

4 SubmittersRCV000576821RCV000816222RCV002497220
NR_003051.3(RMRP):n.-4A>G SNV
Germline		 Chr9:35658022 Conflicting classifications of pathogenicity not specified
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia		 Criteria Provided
Conflicting Classifications
 CA192745748 rs_555890962

3 SubmittersRCV000610071RCV000672983RCV001239736
NR_003051.4(RMRP):n.37C>T SNV
Germline		 Chr9:35657983 Pathogenic/Likely pathogenic Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA464450999 rs_549085067

3 SubmittersRCV000641006RCV001273834RCV002499076
NR_003051.4(RMRP):n.37C>A SNV
Germline		 Chr9:35657983 Conflicting classifications of pathogenicity Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Conflicting Classifications
 CA5045860 rs_549085067

2 SubmittersRCV000641013RCV000665904
NR_003051.4(RMRP):n.42G>A SNV
Germline		 Chr9:35657978 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1156413585

4 SubmittersRCV000665942RCV001378693
NR_003051.4(RMRP):n.6C>T SNV
Germline		 Chr9:35658014 Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Condition: not provided
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_772443941

8 SubmittersRCV000667744RCV000799558RCV001553264RCV002507160
NR_003051.3(RMRP):n.-12A>C SNV
Germline		 Chr9:35658030 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
not specified
Condition: not provided
RMRP-related disorder		 Criteria Provided
Conflicting Classifications
 rs_372044910

5 SubmittersRCV000665819RCV000865505RCV001193443RCV001811436RCV003945697
NR_003051.4(RMRP):n.244A>C SNV
Germline		 Chr9:35657776 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
not specified		 Criteria Provided
Conflicting Classifications
 rs_551450545

3 SubmittersRCV000668567RCV002532075RCV004526741
NR_003051.4(RMRP):n.184G>T SNV
Unknown		 Chr9:35657836 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type Criteria Provided
Single Submitter
 rs_1554651153

1 SubmittersRCV000672620
NR_003051.4(RMRP):n.220A>G SNV
Germline		 Chr9:35657800 Pathogenic/Likely pathogenic Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_936059863

5 SubmittersRCV000015288RCV000703896RCV000781820RCV002493235
NR_003051.4(RMRP):n.240C>T SNV
Germline		 Chr9:35657780 Pathogenic/Likely pathogenic Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_749667892

4 SubmittersRCV000015284RCV000699988RCV001797786
NR_003051.4(RMRP):n.213C>G SNV
Germline		 Chr9:35657807 Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders
Anauxetic dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_192060920

4 SubmittersRCV000780686RCV001563589RCV001856189
NR_003051.4(RMRP):n.197C>T SNV
Germline		 Chr9:35657823 Pathogenic Metaphyseal dysplasia without hypotrichosis
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_948931144

5 SubmittersRCV000015285RCV000781815RCV000814860RCV002223939
NR_003051.4(RMRP):n.232C>T SNV
Germline		 Chr9:35657788 Conflicting classifications of pathogenicity Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Conflicting Classifications
 rs_762145032

2 SubmittersRCV000792391RCV002051895
NR_003051.4(RMRP):n.37C>G SNV
Germline		 Chr9:35657983 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia		 Criteria Provided
Single Submitter
 rs_549085067

2 SubmittersRCV001271388RCV000812169
NR_003051.4(RMRP):n.195G>A SNV
Germline		 Chr9:35657825 Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_761398394

5 SubmittersRCV001193444RCV002559222RCV002491588
NR_003051.4(RMRP):n.182G>A SNV
Germline		 Chr9:35657838 Pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1004469515

2 SubmittersRCV001193442RCV001390935
NR_003051.4(RMRP):n.129G>A SNV
Germline		 Chr9:35657891 Pathogenic/Likely pathogenic Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_74810894

2 SubmittersRCV001378692RCV002493919