Full data view for gene ACVR1

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

197 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.-182-8093del r.(=) p.(=) Unknown - likely benign g.158683178del - ACVR1(NM_001347664.1):c.-301-6del - ACVR1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.158656005T>C g.157799493T>C - - ACVR1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6A>G r.(?) p.(Val2=) Unknown - likely benign g.158656000T>C g.157799488T>C - - ACVR1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11G>C r.(?) p.(Gly4Ala) Unknown - VUS g.158655995C>G g.157799483C>G ACVR1(NM_001105.4):c.11G>C (p.(Gly4Ala)) - ACVR1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13G>A r.(?) p.(Val5Met) Unknown - VUS g.158655993C>T g.157799481C>T ACVR1(NM_001105.4):c.13G>A (p.(Val5Met)) - ACVR1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.44C>G r.44c>g p.Ala15Gly Unknown - VUS g.158655962G>C g.157799450G>C - - ACVR1_000001 - PubMed: Bocciardi R, et al., 2009 PubMed: Smith KA, et al., 2009 - - Germline no - - - - DNA, RNA SEQ - - FOP, Healthy/Control - - - - - - - - - - - 16 LOVD
-?/. - c.44C>G r.(?) p.(Ala15Gly) Unknown - likely benign g.158655962G>C g.157799450G>C ACVR1(NM_001105.4):c.44C>G (p.(Ala15Gly)) - ACVR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44C>G r.(?) p.(Ala15Gly) Parent #1 - likely benign g.158655962G>C - - - ACVR1_000001 - PubMed: Bocciardi 2009 - rs13406336 Germline - - - - - DNA SEQ - - FOP FOP12 PubMed: Bocciardi 2009 - F - Italy - - - - - 1 Johan den Dunnen
-?/. - c.127G>A r.(?) p.(Gly43Ser) Unknown - likely benign g.158637053C>T - ACVR1(NM_001105.4):c.127G>A (p.G43S) - ACVR1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141C>G r.(?) p.(His47Gln) Unknown - likely benign g.158637039G>C g.157780527G>C ACVR1(NM_001105.4):c.141C>G (p.(His47Gln)), ACVR1(NM_001105.5):c.141C>G (p.H47Q) - ACVR1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141C>G r.(?) p.(His47Gln) Unknown - likely benign g.158637039G>C - ACVR1(NM_001105.4):c.141C>G (p.(His47Gln)), ACVR1(NM_001105.5):c.141C>G (p.H47Q) - ACVR1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.270C>T r.(?) p.(Ala90=) Unknown - benign g.158636910G>A g.157780398G>A ACVR1(NM_001105.5):c.270C>T (p.A90=) - ACVR1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.270C>T r.(=) p.(=) Both (homozygous) - benign g.158636910G>A g.157780398G>A - - ACVR1_000021 - PubMed: Eresen Yazıcıoglu 2013 - rs2227861 Germline - - - - - DNA SEQ - - FOP Pat4 PubMed: Eresen Yazıcıoglu 2013 - M - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.389C>G r.(?) p.(Ser130Cys) Unknown - likely benign g.158634797G>C - ACVR1(NM_001105.4):c.389C>G (p.(Ser130Cys)) - ACVR1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484G>A r.(?) p.(Val162Met) Unknown - likely benign g.158634702C>T - ACVR1(NM_001105.5):c.484G>A (p.V162M) - ACVR1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512T>C r.(?) p.(Ile171Thr) Unknown - VUS g.158634674A>G - ACVR1(NM_001111067.4):c.512T>C (p.(Ile171Thr)) - ACVR1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.563G>A r.(?) p.(Cys188Tyr) Unknown - VUS g.158630680C>T - ACVR1(NM_001111067.2):c.563G>A (p.(Cys188Tyr)) - ACVR1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.587T>C r.(?) p.(Leu196Pro) Unknown - pathogenic (dominant) g.158630656A>G - - - ACVR1_000002 - PubMed: Gregson 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP patient PubMed: Gregson 2011 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.587T>C r.(?) p.(Leu196Pro) Unknown - pathogenic (dominant) g.158630656A>G - - - ACVR1_000002 - PubMed: Nakahara 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP patient PubMed: Nakahara 2014 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.590_592del r.(?) p.(Pro197_Phe198delinsLeu) Unknown - pathogenic (dominant) g.158630651_158630653del g.157774139_157774141del 590_592delCTT - ACVR1_000003 - PubMed: Kaplan 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat20 PubMed: Kaplan 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.603A>G r.(?) p.(Gln201=) Unknown - VUS g.158630640T>C g.157774128T>C - - ACVR1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.605G>T r.(?) p.(Arg202Ile) Unknown - pathogenic (dominant) g.158630638C>A - - - ACVR1_000004 - PubMed: Petrie 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP Pat1 PubMed: Petrie 2009 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.605G>T r.(?) p.(Arg202Ile) Unknown - pathogenic (dominant) g.158630638C>A - - - ACVR1_000004 - PubMed: Barnett 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - FOP patient PubMed: Barnett 2011 - F - Australia - - - - - 1 Johan den Dunnen
+/. - 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
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