All variants in the ACVR1 gene

Information The variants shown are described using the NM_001105.4 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.1A>G r.(?) p.(Met1?) - VUS g.158656005T>C g.157799493T>C - - ACVR1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.6A>G r.(?) p.(Val2=) - likely benign g.158656000T>C g.157799488T>C - - ACVR1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.11G>C r.(?) p.(Gly4Ala) - 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 - - - 0 - VKGL-NL_Leiden
?/. - c.13G>A r.(?) p.(Val5Met) - 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 - - - 0 - VKGL-NL_Leiden
?/? 1 c.44C>G r.44c>g p.Ala15Gly - VUS g.158655962G>C g.157799450G>C - - ACVR1_000001 - PubMed: Bocciardi R, et al., 2009 PubMed: Smith KA, et al., 2009 - - Germline no - - 0 - LOVD
-?/. - c.44C>G r.(?) p.(Ala15Gly) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.127G>A r.(?) p.(Gly43Ser) - likely benign g.158637053C>T - ACVR1(NM_001105.4):c.127G>A (p.G43S) - ACVR1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.141C>G r.(?) p.(His47Gln) - likely benign g.158637039G>C g.157780527G>C ACVR1(NM_001105.4):c.141C>G (p.(His47Gln)) - ACVR1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.270C>T r.(?) p.(Ala90=) - 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 - - - 0 - VKGL-NL_Groningen
?/? 6 c.587T>C r.(?) p.(Leu196Pro) - VUS g.158630656A>G g.157774144A>G - - ACVR1_000002 - PubMed: Gregson CL, et al., 2010 - - Unknown yes - - 0 - LOVD
+/? 6 c.590-592delCTT r.? p.(Pro197_Phe198delinsLeu) - pathogenic g.158631245delAAG - c.590_592del - ACVR1_000003 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. PubMed: Kaplan FS, et al., 2009 - - Unknown yes - - 0 - LOVD
?/. - c.603A>G r.(?) p.(Gln201=) - VUS g.158630640T>C g.157774128T>C - - ACVR1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 6 c.605G>T r.(?) p.(Arg202Ile) - pathogenic g.158630638C>A g.157774126C>A - - ACVR1_000004 - PubMed: Petrie KA, et al., 2009 - - De novo yes - - 0 - LOVD
+/. - c.617G>A r.(?) p.(Arg206His) - 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 - - - 0 - VKGL-NL_Rotterdam
+/? 6 c.617G>A r.617g>a p.Arg206His - pathogenic g.158630626C>T g.157774114C>T - - ACVR1_000005 PMID: 16642017; PMID: 17351709; PMID:18830232; PMID: 19330033; PMID:19085907; PMID:19300893; PMID:19543505; PMID: 20736820; PMID:22748444; PMID: 22796417; PMID: 23260810; PMID: 23424689 PubMed: Shore EM, et al., 2006 PubMed: Carvalho DR, et al., 2010 - - De novo yes - HphI+ Cac8I- 0 - LOVD
+/. - c.617G>A r.(?) p.(Arg206His) - pathogenic (dominant) g.158630626C>T g.157774114C>T NM_001105.4:c.617G>A:p.(Arg206His) - ACVR1_000005 - PubMed: Maddirevula 2018 - - De novo - - - 0 - LOVD
+/? 6 c.619C>G r.619g>a p.Gln207Glu - pathogenic g.158630624G>C g.157774112G>C - - ACVR1_000006 - PubMed: Kaplan FS, et al., 2009; Bocciardi et al., unpublished - - De novo yes - - 0 - LOVD
?/. - c.638G>C r.(?) p.(Cys213Ser) - VUS g.158630605C>G g.157774093C>G ACVR1(NM_001105.4):c.638G>C (p.C213S) - ACVR1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.642C>T r.(?) p.(Val214=) - likely benign g.158630601G>A g.157774089G>A ACVR1(NM_001105.4):c.642C>T (p.(=)) - ACVR1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.643G>A r.(?) p.(Gly215Arg) - VUS g.158630600C>T g.157774088C>T ACVR1(NM_001105.4):c.643G>A (p.G215R) - ACVR1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.644-3T>C r.spl? p.? - likely benign g.158627029A>G g.157770517A>G ACVR1(NM_001105.4):c.644-3T>C - ACVR1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.690G>A r.(?) p.(Glu230=) - benign g.158626980C>T g.157770468C>T ACVR1(NM_001105.5):c.690G>A (p.E230=) - ACVR1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.719G>C r.(?) p.(Arg240Pro) - VUS g.158626951C>G g.157770439C>G ACVR1(NM_001105.4):c.719G>C (p.(Arg240Pro)) - ACVR1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/? 7 c.774G>C r.(?) p.(Arg258Ser) - pathogenic g.158626896C>G g.157770384C>G - - ACVR1_000007 - PubMed: Bocciardi R, et al., 2009 PubMed: Morales-Piga A, et al., 2012 - - De novo yes - - 0 - LOVD
+/? 7 c.774G>T r.(?) p.(Arg258Ser) - pathogenic g.158626896C>A g.157770384C>A - - ACVR1_000008 - PubMed: Ratbi I, et al., 2010 PubMed: Morales-Piga A, et al., 2012 PubMed: Eresen Yazıcıoğlu C, et al., 2013 - - De novo yes - - 0 - LOVD
+/? 8 c.856C>A r.(?) p.(His286Asp) - pathogenic g.158622643G>T g.157766131G>T - - ACVR1_000009 - PubMed: Joziasse IC, et al., 2011 - - Germline no - - 0 - LOVD
?/. - c.856C>A r.(?) p.(His286Asn) - VUS g.158622643G>T g.157766131G>T ACVR1(NM_001105.4):c.856C>A (p.H286N) - ACVR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 8 c.920G>T r.(?) p.(Arg307Leu) - likely pathogenic g.158622579C>A g.157766067C>A - - ACVR1_000010 - PubMed: Smith KA, et al., 2009 - - Germline no - - 0 - LOVD
?/. - c.954T>G r.(?) p.(His318Gln) - VUS g.158622545A>C g.157766033A>C ACVR1(NM_001105.4):c.954T>G (p.(His318Gln)) - ACVR1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/? 8 c.974G>C r.(?) p.(Gly325Ala) - likely pathogenic g.158622525C>G g.157766013C>G - - ACVR1_000011 - PubMed: Whyte MP, et al., 2012 - - Unknown yes - - 0 - LOVD
+/? 8 c.982G>A r.(?) p.(Gly328Arg) - pathogenic g.158622517C>T g.157766005C>T - - ACVR1_000012 - PubMed: Kaplan FS, et al., 2009 - - Unknown yes - - 0 - LOVD
+/? 8 c.982G>C r.(?) p.(Gly328Arg) - pathogenic g.158622517C>G g.157766005C>G - - ACVR1_000013 - PubMed: Kaplan FS, et al., 2009 - - Unknown yes - - 0 - LOVD
+/? 8 c.982G>T r.(?) p.(Gly328Trp) - pathogenic g.158622517C>A g.157766005C>A - - ACVR1_000014 - PubMed: Kaplan FS, et al., 2009 - - Unknown yes - - 0 - LOVD
+/? 8 c.983G>A r.(?) p.(Gly328Glu) - pathogenic g.158622516C>T g.157766004C>T - - ACVR1_000015 - PubMed: Kaplan FS, et al., 2009 PubMed: 7. Petrie KA, et al., 2009 PubMed: Carvalho DR, et al., 2010 - - Unknown yes - StyI+ 0 - LOVD
+/? 8 c.1028T>C r.(?) p.(Leu343Pro) - pathogenic g.158622471A>G g.157765959A>G - - ACVR1_000016 - PubMed: 19506109 - - Germline no - - 0 - LOVD
+/? 9 c.1067G>A r.1067g>a p.Gly356Asp - pathogenic g.158617589C>T g.157761077C>T - - ACVR1_000017 - PubMed: Furuya H,et al., 2008 PubMed: Kaplan FS, et al., 2009 - - De novo yes - - 0 - LOVD
-?/. - c.1086C>A r.(?) p.(Ser362=) - likely benign g.158617570G>T - ACVR1(NM_001105.4):c.1086C>A (p.S362=) - ACVR1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 9 c.1124G>C r.(?) p.(Arg375Pro) - pathogenic g.158617532C>G g.157761020C>G - - ACVR1_000018 - PubMed: Kaplan FS, et al., 2009 - - Unknown yes - - 0 - LOVD
-/. - c.1131C>T r.(?) p.(Gly377=) - benign g.158617525G>A g.157761013G>A - - ACVR1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1395+5G>A r.spl? p.? - VUS g.158594947C>T g.157738435C>T ACVR1(NM_001105.4):c.1395+5G>A - ACVR1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1449C>T r.(?) p.(Ser483=) - likely benign g.158594124G>A g.157737612G>A - - ACVR1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1513T>C r.(?) p.(Leu505=) - benign g.158594060A>G g.157737548A>G - - ACVR1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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