Total 14 pathogenic variants reported for Lethal osteosclerotic bone dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020223.4(FAM20C):c.1093G>C (p.Gly365Arg) SNV
Germline		 Chr7:255869 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250010 rs_267606795

1 SubmittersRCV000001078
NM_020223.4(FAM20C):c.1163T>G (p.Leu388Arg) SNV
Germline		 Chr7:255939 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250012 rs_796051849

1 SubmittersRCV000001079
NM_020223.4(FAM20C):c.957-3C>G SNV
Germline		 Chr7:248312 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250014 rs_796051851

1 SubmittersRCV000001081
NM_020223.4(FAM20C):c.1136G>A (p.Gly379Glu) SNV
Germline		 Chr7:255912 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250015 rs_796051852

1 SubmittersRCV000001082
NM_020223.4(FAM20C):c.1364-2A>G SNV
Germline		 Chr7:257003 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250016 rs_796051853

1 SubmittersRCV000001083
NM_020223.4(FAM20C):c.956+5G>C SNV
Germline		 Chr7:246512 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250017 rs_796051854

1 SubmittersRCV000001084
NM_020223.4(FAM20C):c.1446-1G>A SNV
Germline		 Chr7:258645 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250018 rs_796051855

1 SubmittersRCV000001085
NM_020223.4(FAM20C):c.1351G>A (p.Asp451Asn) SNV
Germline		 Chr7:256751 Likely pathogenic Lethal osteosclerotic bone dysplasia
Condition: not provided		 Criteria Provided
Single Submitter
 rs_2115173146

2 SubmittersRCV000023860RCV002468976
NM_020223.4(FAM20C):c.737T>A (p.Ile246Asn) SNV
Germline		 Chr7:195685 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250057 rs_796051874

1 SubmittersRCV000023861
NM_020223.4(FAM20C):c.982C>T (p.Pro328Ser) SNV
Germline		 Chr7:248340 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 CA250061 rs_797044462

1 SubmittersRCV000023863
NM_020223.4(FAM20C):c.600G>C (p.Pro200=) SNV
Germline		 Chr7:193799 Conflicting classifications of pathogenicity Condition: not provided
Lethal osteosclerotic bone dysplasia		 Criteria Provided
Conflicting Classifications
 rs_201631664

2 SubmittersRCV002146640RCV002243525
NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp) SNV
Germline		 Chr7:255870 Pathogenic Lethal osteosclerotic bone dysplasia No Assertion Criteria Provided
 rs_2115171312

1 SubmittersRCV002221985
NM_020223.4(FAM20C):c.1331T>G (p.Val444Gly) SNV
Germline		 Chr7:256731 Likely pathogenic Lethal osteosclerotic bone dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003991717