Total 40 pathogenic variants reported for Steel syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) SNV
Germline		 Chr9:114195977 Pathogenic Steel syndrome
Condition: not provided
COL27A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA333291 rs_140950220

8 SubmittersRCV000132771RCV000337500RCV004754310
NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter) SNV
Germline		 Chr9:114196007 Pathogenic Steel syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374599299 rs_1401322428

3 SubmittersRCV000677092RCV002531384
NM_032888.4(COL27A1):c.3556-2A>G SNV
Germline		 Chr9:114270726 Pathogenic Steel syndrome Criteria Provided
Single Submitter
 CA374597692 rs_1554821679

2 SubmittersRCV000677205
NM_032888.4(COL27A1):c.2405G>A (p.Gly802Glu) SNV
Germline		 Chr9:114219828 Pathogenic Steel syndrome Criteria Provided
Single Submitter
 CA374602609 rs_1830954329

1 SubmittersRCV001090006
NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter) SNV
Germline		 Chr9:114292145 Pathogenic Steel syndrome
Condition: not provided
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA374590184 rs_1289391715

3 SubmittersRCV001644994RCV003770808RCV005911066
NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter) SNV
Germline		 Chr9:114266610 Pathogenic/Likely pathogenic Steel syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374597145 rs_1328051341

2 SubmittersRCV001332720RCV001865766
NM_032888.4(COL27A1):c.4152+1G>A SNV
Germline		 Chr9:114288968 Likely pathogenic Condition: not provided
Steel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374599905 rs_2131618521

2 SubmittersRCV001377177RCV005040234
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter) SNV
Germline		 Chr9:114168771 Pathogenic/Likely pathogenic Condition: not provided
Steel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374593676 rs_1849088219

2 SubmittersRCV001386749RCV002499806
NM_032888.4(COL27A1):c.4078C>A (p.Pro1360Thr) SNV
Germline		 Chr9:114288735 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Steel syndrome		 Criteria Provided
Conflicting Classifications
 CA5202767 rs_141452198

3 SubmittersRCV001477301RCV002561997RCV005361620
NM_032888.4(COL27A1):c.3294+1G>C SNV
Germline		 Chr9:114264969 Pathogenic Steel syndrome Criteria Provided
Single Submitter
 CA374596334 rs_2135594366

1 SubmittersRCV001780545
NM_032888.4(COL27A1):c.4060C>T (p.Arg1354Ter) SNV
Germline		 Chr9:114288717 Pathogenic Steel syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374599588 rs_753461513

2 SubmittersRCV001815630RCV001869636
NM_032888.4(COL27A1):c.62+1G>T SNV
Germline		 Chr9:114156013 Likely pathogenic Steel syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374586842 rs_1848097390

2 SubmittersRCV001823467RCV002545191
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=) SNV
Germline		 Chr9:114211026 Likely pathogenic Condition: not provided
Steel syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA466777027 rs_1830319943

2 SubmittersRCV002041698RCV003317536
NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter) SNV
Germline		 Chr9:114209726 Pathogenic/Likely pathogenic Steel syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374601296 rs_1465820080

2 SubmittersRCV002244252RCV003774694
NM_032888.4(COL27A1):c.358C>T (p.Gln120Ter) SNV
Germline		 Chr9:114167913 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter
 CA374589484 rs_2490550913

1 SubmittersRCV003143598
NM_032888.4(COL27A1):c.4261-1G>A SNV
Germline		 Chr9:114290223 Pathogenic Steel syndrome Criteria Provided
Single Submitter
 CA374587172 rs_1220881640

1 SubmittersRCV004515788
NM_032888.4(COL27A1):c.2728-1G>A SNV
Germline		 Chr9:114240219 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005043745
NM_032888.4(COL27A1):c.3010G>T (p.Glu1004Ter) SNV
Germline		 Chr9:114250645 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005043747
NM_032888.4(COL27A1):c.4495G>T (p.Gly1499Ter) SNV
Germline		 Chr9:114292121 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048884
NM_032888.4(COL27A1):c.5117G>A (p.Trp1706Ter) SNV
Germline		 Chr9:114307678 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048885
NM_032888.4(COL27A1):c.2673+4A>G SNV
Germline		 Chr9:114237038 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006255311
NM_032888.4(COL27A1):c.2619+1G>A SNV
Germline		 Chr9:114235653 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006255314
NM_032888.4(COL27A1):c.3988G>C (p.Gly1330Arg) SNV
Germline		 Chr9:114288455 Likely pathogenic Steel syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006449419