Total 50 pathogenic variants reported for Metaphyseal chondrodysplasia, Schmid type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp) SNV
Germline		 Chr6:116120324 Pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Single Submitter
 CA127210 rs_111033544

2 SubmittersRCV000019017RCV001851928
NM_000493.4(COL10A1):c.1771T>C (p.Cys591Arg) SNV
Germline		 Chr6:116120345 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Single Submitter
 CA127212 rs_111033546

2 SubmittersRCV000019019RCV001851929
NM_000493.4(COL10A1):c.1884C>G (p.Tyr628Ter) SNV
Germline		 Chr6:116120232 Pathogenic Metaphyseal chondrodysplasia, Schmid type No Assertion Criteria Provided
 CA127213 rs_111033543

1 SubmittersRCV000019024
NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter) SNV
Germline		 Chr6:116120163 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter
 CA127215 rs_111033547

2 SubmittersRCV000019025
NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg) SNV
Germline		 Chr6:116120165 Pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Single Submitter
 CA127217 rs_111033549

2 SubmittersRCV000019026RCV002513115
NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg) SNV
Germline		 Chr6:116125441 Pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter
 CA127218 rs_111033550

2 SubmittersRCV000019027
NM_000493.4(COL10A1):c.53G>A (p.Gly18Glu) SNV
Germline		 Chr6:116125440 Pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Single Submitter
 CA127219 rs_111033551

2 SubmittersRCV000019028RCV001378530
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) SNV
Germline		 Chr6:116120105 Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127220 rs_111033552

4 SubmittersRCV000019029RCV001385329
NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter) SNV
Germline		 Chr6:116120220 Pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Single Submitter
 CA127221 rs_111033548

2 SubmittersRCV000019030RCV001851930
NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu) SNV
Germline		 Chr6:116120332 Pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Single Submitter
 CA127223 rs_111033553

2 SubmittersRCV000019031RCV001851931
NM_000493.4(COL10A1):c.1790A>G (p.Tyr597Cys) SNV
Germline		 Chr6:116120326 Pathogenic Metaphyseal chondrodysplasia, Schmid type No Assertion Criteria Provided
 CA127224 rs_111033554

1 SubmittersRCV000019032
NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter) SNV
Germline		 Chr6:116120284 Pathogenic Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Single Submitter
 CA127226 rs_111033556

2 SubmittersRCV000019034RCV003556046
NM_000493.4(COL10A1):c.1989C>G (p.Tyr663Ter) SNV
Germline		 Chr6:116120127 Pathogenic Metaphyseal chondrodysplasia, Schmid type No Assertion Criteria Provided
 CA365386252 rs_2114276588

1 SubmittersRCV000022472
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val) SNV
Germline		 Chr6:116120078 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3968068 rs_145003921

4 SubmittersRCV000390403RCV001565998RCV004800392
NM_000493.4(COL10A1):c.633A>G (p.Thr211=) SNV
Germline		 Chr6:116121483 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10625675 rs_886060992

2 SubmittersRCV000376026RCV002061303
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val) SNV
Germline		 Chr6:116125450 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3968514 rs_147612968

4 SubmittersRCV000359455RCV000970841RCV006342245
NM_000493.4(COL10A1):c.1144C>T (p.Pro382Ser) SNV
Germline		 Chr6:116120972 Conflicting classifications of pathogenicity Condition: not provided
Metaphyseal chondrodysplasia, Schmid type		 Criteria Provided
Conflicting Classifications
 CA365389174 rs_1247147548

2 SubmittersRCV000905680RCV001156888
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly) SNV
Germline		 Chr6:116120345 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type No Assertion Criteria Provided
 CA365386919 rs_111033546

1 SubmittersRCV000985074
NM_000493.4(COL10A1):c.158T>G (p.Ile53Arg) SNV
Germline		 Chr6:116121958 Conflicting classifications of pathogenicity Condition: not provided
Metaphyseal chondrodysplasia, Schmid type
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3968467 rs_200692352

3 SubmittersRCV001045681RCV001154490RCV002552586
NM_000493.4(COL10A1):c.1349C>A (p.Thr450Asn) SNV
Germline		 Chr6:116120767 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3968195 rs_374996283

3 SubmittersRCV001155231RCV001882484RCV005540287
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) SNV
Germline		 Chr6:116121344 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3968326 rs_765628474

4 SubmittersRCV001156891RCV002249740RCV002558368
NM_000493.4(COL10A1):c.357G>C (p.Glu119Asp) SNV
Germline		 Chr6:116121759 Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3968418 rs_149987585

3 SubmittersRCV001154488RCV002558338RCV005093661
NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter) SNV
Germline		 Chr6:116120164 Conflicting classifications of pathogenicity Condition: not provided
Metaphyseal chondrodysplasia, Schmid type		 Criteria Provided
Conflicting Classifications
 CA365386332 rs_1779066482

3 SubmittersRCV001269997RCV001331279
NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp) SNV
Germline		 Chr6:116120273 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type No Assertion Criteria Provided
 CA365386675 rs_1779072705

1 SubmittersRCV001293671
NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter) SNV
Germline		 Chr6:116120127 Pathogenic Condition: not provided
Metaphyseal chondrodysplasia, Schmid type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365386251 rs_2114276588

2 SubmittersRCV001372532RCV001806158
NM_000493.4(COL10A1):c.211C>T (p.Arg71Ter) SNV
Germline		 Chr6:116121905 Pathogenic/Likely pathogenic See cases
Condition: not provided
Metaphyseal chondrodysplasia, Schmid type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3968453 rs_779802963

3 SubmittersRCV003128430RCV003238708RCV005635205
NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg) SNV
Germline		 Chr6:116120161 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter
 CA365386322 rs_2114276916

1 SubmittersRCV002227898
NM_000493.4(COL10A1):c.1772G>T (p.Cys591Phe) SNV
Germline		 Chr6:116120344 Pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter
 CA365386917 rs_2114278741

1 SubmittersRCV002240142
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr) SNV
Germline		 Chr6:116120344 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter
 CA365386916 rs_2114278741

1 SubmittersRCV002248993
NM_000493.4(COL10A1):c.1833G>A (p.Trp611Ter) SNV
Germline		 Chr6:116120283 Pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter
 CA365386705 rs_2534084357

1 SubmittersRCV002306433
NM_000493.4(COL10A1):c.1945C>T (p.Gln649Ter) SNV
Germline		 Chr6:116120171 Pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter
 CA365386346 rs_2534083734

1 SubmittersRCV004555013
NM_000493.4(COL10A1):c.415G>T (p.Gly139Cys) SNV
Germline		 Chr6:116121701 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type Criteria Provided
Single Submitter

1 SubmittersRCV004797450