Total 12 pathogenic variants reported for Progressive myositis ossificans

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)	SNV Germline	Chr2:157774114	Pathogenic	Progressive myositis ossificans Inborn genetic diseases Epicanthus Condition: not provided ACVR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128036	rs_121912678	19 SubmittersRCV000019971 RCV001267285 RCV001823099 RCV000422441 RCV003904851
NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp)	SNV Germline	Chr2:157761077	Pathogenic	Progressive myositis ossificans Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA128037	rs_121912679	3 SubmittersRCV000019972 RCV001851956
NM_001111067.4(ACVR1):c.774G>C (p.Arg258Ser)	SNV Germline	Chr2:157770384	Pathogenic	Progressive myositis ossificans	No Assertion Criteria Provided	CA128038	rs_121912680	1 SubmittersRCV000019973
NM_001111067.4(ACVR1):c.982G>A (p.Gly328Arg)	SNV Germline	Chr2:157766005	Pathogenic	Progressive myositis ossificans	No Assertion Criteria Provided	CA213010	rs_387906588	1 SubmittersRCV000022430
NM_001111067.4(ACVR1):c.982G>T (p.Gly328Trp)	SNV Germline	Chr2:157766005	Pathogenic	Progressive myositis ossificans	No Assertion Criteria Provided	CA128481	rs_387906588	1 SubmittersRCV000022431
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)	SNV Germline	Chr2:157766004	Pathogenic/Likely pathogenic	Progressive myositis ossificans Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA128482	rs_387906589	5 SubmittersRCV000022432 RCV000624246 RCV003556067
NM_001111067.4(ACVR1):c.1124G>C (p.Arg375Pro)	SNV Germline	Chr2:157761020	Pathogenic	Progressive myositis ossificans	No Assertion Criteria Provided	CA128483	rs_387906590	1 SubmittersRCV000022433
NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile)	SNV Germline	Chr2:157774126	Pathogenic	Progressive myositis ossificans	No Assertion Criteria Provided	CA128484	rs_387906591	1 SubmittersRCV000022434
NM_001111067.4(ACVR1):c.587T>C (p.Leu196Pro)	SNV Germline	Chr2:157774144	Pathogenic	Progressive myositis ossificans	No Assertion Criteria Provided	CA204950	rs_797045135	1 SubmittersRCV000190876
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)	SNV Germline	Chr2:157770386	Likely pathogenic	Progressive myositis ossificans	Criteria Provided Single Submitter	CA278984	rs_863224846	1 SubmittersRCV000198218
NM_001111067.4(ACVR1):c.525T>A (p.Val175=)	SNV Germline	Chr2:157778149	Conflicting classifications of pathogenicity	Progressive myositis ossificans Condition: not provided	Criteria Provided Conflicting Classifications		rs_371512479	2 SubmittersRCV001132194 RCV002556845
NM_001111067.4(ACVR1):c.126C>T (p.Cys42=)	SNV Germline	Chr2:157780542	Conflicting classifications of pathogenicity	Progressive myositis ossificans Condition: not provided	Criteria Provided Conflicting Classifications		rs_748424210	3 SubmittersRCV001132196 RCV003558698