Full data view for gene ACVR1

Information The variants shown are described using the transcript reference sequence.

124 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic g.158630626C>T g.157774114C>T ACVR1(NM_001105.4):c.617G>A (p.R206H) - ACVR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.617G>A r.617g>a p.Arg206His Maternal (confirmed) - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline yes - HphI+;Cac8I- - - DNA, RNA PCRdig, RT-PCR, SEQ - - FOP Fam1;FamA PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 4 affected (2F, 2M) F - United States - - - - - 4 LOVD
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T NM_001105.4:c.617G>A:p.(Arg206His) - ACVR1_000005 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG2212 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
+/. 6 c.617G>A r.(?) p.(Arg206His) Maternal (confirmed) - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline yes - HphI+;Cac8I- - - DNA SEQ - - FOP Fam2;FamB PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 5 affected (4F, M) - - United Kingdom (Great Britain) - - - - - 5 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Paternal (confirmed) - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline yes - HphI+;Cac8I- - - DNA SEQ - - FOP Fam4;FamC PubMed: Feldman 2000, PubMed: Shore 2006 2-generation family, affected father/daughter - - United States - - - - - 2 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Paternal (confirmed) - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline yes - HphI+;Cac8I- - - DNA SEQ - - FOP FamD PubMed: Shore 2006 2-generation family, affected father/2 daughters - - United States - - - - - 3 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Paternal (confirmed) - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline yes - HphI+;Cac8I- - - DNA SEQ - - FOP FamE PubMed: Shore 2006 2-generation family, affected father/son/daughters - - United States - - - - - 3 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Paternal (confirmed) - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline yes - HphI+;Cac8I- - - DNA SEQ - - FOP FamF PubMed: Shore 2006 family - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Paternal (confirmed) - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline yes - HphI+;Cac8I- - - DNA SEQ - - FOP FamG PubMed: Shore 2006 family - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Shore 2006 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lin 2006 - - De novo - - HphI+;Cac8I- - - DNA SEQ - - FOP patient PubMed: Lin 2006 2-generation family, 1 affected, unaffected non-carrier parent F - Taiwan - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Nakajima 2007 - - De novo - - HphI+;Cac8I- - - DNA SEQ - - FOP FOP1 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Nakajima 2007 - - De novo - - HphI+;Cac8I- - - DNA SEQ - - FOP FOP2 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.617G>A r.(617g>a) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Nakajima 2007 - - Germline/De novo (untested) - - HphI+;Cac8I- - - DNA SEQ - - FOP FOP3 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent F - Japan - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - De novo - - - - - DNA SEQ - - FOP FOP1 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - De novo - - - - - DNA SEQ - - FOP FOP2 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - De novo - - - - - DNA SEQ - - FOP FOP3 PubMed: Bocciardi 2009 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP4 PubMed: Bocciardi 2009 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP5 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP6 PubMed: Bocciardi 2009 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP7 PubMed: Bocciardi 2009 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP8 PubMed: Bocciardi 2009 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP9 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP10 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - De novo - - - - - DNA SEQ - - FOP FOP11 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP13 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP14 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP15 PubMed: Bocciardi 2009 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Bocciardi 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP FOP16 PubMed: Bocciardi 2009 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - high resolution karyotype normal ACVR1_000005 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat1 PubMed: Kaplan 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - high resolution karyotype normal ACVR1_000005 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat2 PubMed: Kaplan 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - high resolution karyotype normal ACVR1_000005 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat3 PubMed: Kaplan 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - high resolution karyotype normal ACVR1_000005 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat4 PubMed: Kaplan 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - high resolution karyotype normal ACVR1_000005 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat5 PubMed: Kaplan 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - high resolution karyotype normal ACVR1_000005 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat6 PubMed: Kaplan 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP patients PubMed: Kaplan 2019 64 classic FOP patients F;M - - - - - - - 64 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T - - - ACVR1_000005 - PubMed: Sun 2009 - - De novo - - - - - DNA SEQ - - FOP Pat1 PubMed: Sun 2009 - M - China - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T - - - ACVR1_000005 - PubMed: Sun 2009 - - De novo - - - - - DNA SEQ - - FOP Pat2 PubMed: Sun 2009 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat1 PubMed: Lee 2009 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat2 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat3 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat4 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat5 PubMed: Lee 2009 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat6 PubMed: Lee 2009 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat7 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat8 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat9 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat10 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat11 PubMed: Lee 2009 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Lee 2009 - - De novo - - Cac8I-;HphI+ - - DNA SEQ - - FOP Pat12 PubMed: Lee 2009 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T - - - ACVR1_000005 - PubMed: Guo 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat1 PubMed: Guo 2010 - F - China - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T - - - ACVR1_000005 - PubMed: Guo 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat2 PubMed: Guo 2010 - M - China - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Dandara 2012 - - Germline/De novo (untested) - - Cac8I-;HphI+ - - DNA SEQ - - FOP FOP1.1 PubMed: Dandara 2012 - F - South Africa Xhosa - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Dandara 2012 - - Germline/De novo (untested) - - Cac8I-;HphI+ - - DNA SEQ - - FOP FOP2.1 PubMed: Dandara 2012 - M - South Africa Xhosa - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Dandara 2012 - - Germline/De novo (untested) - - Cac8I-;HphI+ - - DNA SEQ - - FOP FOP3.1 PubMed: Dandara 2012 - F - South Africa Xhosa - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Dandara 2012 - - Germline/De novo (untested) - - Cac8I-;HphI+ - - DNA SEQ - - FOP FOP4.1 PubMed: Dandara 2012 - F - South Africa colored - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Dandara 2012 - - Germline/De novo (untested) - - Cac8I-;HphI+ - - DNA SEQ - - FOP FOP5.1 PubMed: Dandara 2012 - F - South Africa Xhosa - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Dandara 2012 - - Germline/De novo (untested) - - Cac8I-;HphI+ - - DNA SEQ - - FOP FOP6.1 PubMed: Dandara 2012 - F - South Africa white - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat1 PubMed: Morales-Piga 2012 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat2 PubMed: Morales-Piga 2012 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat3 PubMed: Morales-Piga 2012 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat4 PubMed: Morales-Piga 2012 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat5 PubMed: Morales-Piga 2012 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat8 PubMed: Morales-Piga 2012 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat11 PubMed: Morales-Piga 2012 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat12 PubMed: Morales-Piga 2012 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat14 PubMed: Morales-Piga 2012 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat15 PubMed: Morales-Piga 2012 - F - Spain - - - - - 1 Johan den Dunnen
+/. - c.617G>A r.(?) p.(Arg206His) Unknown - pathogenic (dominant) g.158630626C>T g.157774114C>T - - ACVR1_000005 - PubMed: Morales-Piga 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat16 PubMed: Morales-Piga 2012 - F - Spain - - - - - 1 Johan den Dunnen
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