Total 207 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 chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis		 Reviewed By Expert Panel
 CA257181 rs_727502774

6 SubmittersRCV000015277RCV001207690RCV002496369
NR_003051.4(RMRP):n.16G>A SNV
Germline		 Chr9:35658004 Pathogenic/Likely pathogenic Anauxetic dysplasia 1
Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA464451063 rs_902313238

3 SubmittersRCV000015294RCV002514102RCV006700673
NR_003051.3(RMRP):n.64C>T SNV
Germline		 Chr9:35657955 Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274361 rs_786204684

10 SubmittersRCV000169492RCV000763614RCV000794299RCV001725132
NC_000009.12:g.35657872C>T SNV
Germline		 Chr9:35657872 Likely pathogenic Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
Condition: not provided
Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis
Metaphyseal chondrodysplasia, McKusick type		 Reviewed By Expert Panel
 CA5045835 rs_753874439

8 SubmittersRCV001563660RCV000423744RCV000549969RCV000666251RCV002488899
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 Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia 1
Condition: not provided
not specified
RMRP-related disorder		 Criteria Provided
Conflicting Classifications
 CA5045839 rs_74810894

6 SubmittersRCV000535218RCV001271383RCV002060322RCV001726225RCV001824821RCV003409793
NR_003051.4(RMRP):n.244A>G SNV
Germline		 Chr9:35657776 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
RMRP-related disorder		 Reviewed By Expert Panel
 CA192745540 rs_551450545

7 SubmittersRCV000576821RCV000816222RCV002497220RCV004748829
NC_000009.12:g.35658022T>C 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
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA464450999 rs_549085067

3 SubmittersRCV000641006RCV001273834RCV002499076
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
 CA464450986 rs_1156413585

5 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
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5045870 rs_772443941

8 SubmittersRCV000667744RCV000799558RCV001553264RCV002507160
NR_003051.4(RMRP):n.256C>G SNV
Germline		 Chr9:35657764 Likely pathogenic Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Single Submitter
 CA464450183 rs_1170858087

3 SubmittersRCV000015296RCV000667620
NR_003051.4(RMRP):n.156G>T SNV
Germline		 Chr9:35657864 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Single Submitter
 CA192745598 rs_752709977

3 SubmittersRCV000665758RCV002285169
NC_000009.12:g.35658030T>G SNV
Germline		 Chr9:35658030 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Condition: not provided
not specified
RMRP-related disorder		 Criteria Provided
Conflicting Classifications
 CA5045888 rs_372044910

6 SubmittersRCV000665819RCV000865505RCV001811436RCV001193443RCV003945697
NR_003051.4(RMRP):n.244A>C SNV
Germline		 Chr9:35657776 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia		 Reviewed By Expert Panel
 CA464450288 rs_551450545

4 SubmittersRCV000668567RCV002532075
NR_003051.4(RMRP):n.184G>T SNV
Unknown		 Chr9:35657836 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type No Assertion Criteria Provided
 CA464450618 rs_1554651153

1 SubmittersRCV000672620
NR_003051.4(RMRP):n.101C>T SNV
Germline		 Chr9:35657919 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
not specified		 Criteria Provided
Conflicting Classifications
 CA5045849 rs_536333075

4 SubmittersRCV000671273RCV002531275RCV004702298
NR_003051.4(RMRP):n.220A>G SNV
Germline		 Chr9:35657800 Likely pathogenic Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis
Metaphyseal chondrodysplasia, McKusick type		 Reviewed By Expert Panel
 CA192745562 rs_936059863

6 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
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5045819 rs_749667892

6 SubmittersRCV000015284RCV000699988RCV001797786RCV005357938
NR_003051.4(RMRP):n.213C>G SNV
Germline		 Chr9:35657807 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
Anauxetic dysplasia		 Reviewed By Expert Panel
 CA464450521 rs_192060920

5 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
Anauxetic dysplasia 1		 Reviewed By Expert Panel
 CA192745572 rs_948931144

9 SubmittersRCV000015285RCV000781815RCV000814860RCV002223939RCV006636261
NR_003051.4(RMRP):n.232C>T SNV
Germline		 Chr9:35657788 Likely pathogenic Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Reviewed By Expert Panel
 CA192745556 rs_762145032

3 SubmittersRCV000792391RCV002051895
NR_003051.4(RMRP):n.37C>G SNV
Germline		 Chr9:35657983 Likely pathogenic Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Single Submitter
 CA192745701 rs_549085067

2 SubmittersRCV000812169RCV001271388
NC_000009.12:g.35658042T>C SNV
Germline		 Chr9:35658042 Conflicting classifications of pathogenicity Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
RMRP-related disorder
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5045894 rs_529852688

5 SubmittersRCV000873179RCV001825761RCV003948203RCV002495303RCV006634926
NR_003051.4(RMRP):n.195G>A SNV
Germline		 Chr9:35657825 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia		 Reviewed By Expert Panel
 CA5045825 rs_761398394

6 SubmittersRCV001193444RCV002491588RCV002559222
NR_003051.4(RMRP):n.182G>A SNV
Germline		 Chr9:35657838 Pathogenic Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA192745579 rs_1004469515

4 SubmittersRCV001193442RCV001390935RCV005359915
NR_003051.4(RMRP):n.148G>C SNV
Germline		 Chr9:35657872 Conflicting classifications of pathogenicity Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Conflicting Classifications
 CA5045834 rs_753874439

2 SubmittersRCV001210940RCV001833849
NR_003051.4(RMRP):n.129G>A SNV
Germline		 Chr9:35657891 Pathogenic/Likely pathogenic Anauxetic dysplasia
Anauxetic dysplasia 1
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Anauxetic dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA192745613 rs_74810894

3 SubmittersRCV001378692RCV002493919RCV005253824
NR_003051.4(RMRP):n.222T>C SNV
Germline		 Chr9:35657798 Likely pathogenic Anauxetic dysplasia
Metaphyseal chondrodysplasia, McKusick type		 Reviewed By Expert Panel
 CA192745561 rs_1013239356

3 SubmittersRCV001385131RCV006450956
NR_003051.4(RMRP):n.219C>T SNV
Germline		 Chr9:35657801 Conflicting classifications of pathogenicity not specified
Metaphyseal chondrodysplasia, McKusick type		 Criteria Provided
Conflicting Classifications
 CA192745563 rs_1021056174

2 SubmittersRCV003155766RCV006641315
NR_003051.4(RMRP):n.246G>C SNV
Germline		 Chr9:35657774 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
Anauxetic dysplasia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004759368RCV005064947
NR_003051.4(RMRP):n.82G>A SNV
Germline		 Chr9:35657938 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type Criteria Provided
Single Submitter

1 SubmittersRCV006642220
NR_003051.4(RMRP):n.224C>G SNV
Germline		 Chr9:35657796 Likely pathogenic Metaphyseal chondrodysplasia, McKusick type Criteria Provided
Single Submitter

1 SubmittersRCV006646299