Full data view for gene ACTA2

Information The variants shown are described using the NM_001613.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-38202C>G likely benign r.(?) p.(=) Unknown g.90750666G>C - FAS(NM_000043.5):c.30+3G>C (p.?) - FAS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-144C>G likely benign r.(?) p.(=) Unknown g.90712608G>C - ACTA2(NM_001141945.1):c.-23-3898C>G - ACTA2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-24+395_-24+396insA likely benign r.(=) p.(=) Unknown g.90712092_90712093insT - ACTA2(NM_001141945.1):c.-23-3383_-23-3382insA - FAS_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-24+745C>T likely benign r.(=) p.(=) Unknown g.90711743G>A - ACTA2(NM_001141945.1):c.-23-3033C>T - ACTA2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-24+1187T>C likely benign r.(=) p.(=) Unknown g.90711301A>G - ACTA2(NM_001141945.1):c.-23-2591T>C - ACTA2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-24+1513C>T likely benign r.(=) p.(=) Unknown g.90710975G>A - ACTA2(NM_001141945.1):c.-23-2265C>T - ACTA2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-23-867A>T likely benign r.(=) p.(=) Unknown g.90709577T>A - ACTA2(NM_001141945.1):c.-23-867A>T - ACTA2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-23-866T>C likely benign r.(=) p.(=) Unknown g.90709576A>G - ACTA2(NM_001141945.1):c.-23-866T>C - ACTA2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-23-615T>G likely benign r.(=) p.(=) Unknown g.90709325A>C - ACTA2(NM_001141945.1):c.-23-615T>G - ACTA2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-23-461G>A likely benign r.(=) p.(=) Unknown g.90709171C>T - ACTA2(NM_001141945.1):c.-23-461G>A - ACTA2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.13G>C VUS r.(?) p.(Glu5Gln) Unknown g.90708675C>G - ACTA2(NM_001141945.1):c.13G>C (p.E5Q) - ACTA2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.42T>C likely benign r.(?) p.(=) Unknown g.90708646A>G - ACTA2(NM_001141945.1):c.42T>C (p.=) - ACTA2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.107T>C likely pathogenic r.(?) p.(Ile36Thr) Unknown g.90708581A>G - ACTA2(NM_001141945.1):c.107T>C (p.I36T) - FAS_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.115C>T pathogenic r.(?) p.(Arg39Cys) Unknown g.90708573G>A - ACTA2(NM_001141945.1):c.115C>T (p.R39C) - ACTA2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.116G>A pathogenic r.(?) p.(Arg39His) Unknown g.90708572C>T - ACTA2(NM_001141945.1):c.116G>A (p.R39H) - ACTA2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.129+100T>C likely benign r.(=) p.(=) Unknown g.90708459A>G - ACTA2(NM_001141945.1):c.129+100T>C - ACTA2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.129+433C>G likely benign r.(=) p.(=) Unknown g.90708126G>C - ACTA2(NM_001141945.1):c.129+433C>G - ACTA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.129+563T>G likely benign r.(=) p.(=) Unknown g.90707996A>C - ACTA2(NM_001141945.1):c.129+563T>G - ACTA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.129+623T>C likely benign r.(=) p.(=) Unknown g.90707936A>G - ACTA2(NM_001141945.1):c.129+623T>C - ACTA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.130-254T>C likely benign r.(=) p.(=) Unknown g.90707397A>G - ACTA2(NM_001141945.1):c.130-254T>C - ACTA2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.130-25C>T benign r.(=) p.(=) Unknown g.90707168G>A - ACTA2(NM_001613.2):c.130-25C>T - ACTA2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.133G>A VUS r.(?) p.(Val45Met) Unknown g.90707140C>T - ACTA2(NM_001613.2):c.133G>A (p.V45M) - ACTA2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.134T>G VUS r.(?) p.(Val45Gly) Unknown g.90707139A>C - ACTA2(NM_001613.2):c.134T>G (p.V45G) - ACTA2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.143G>T - r.(?) p.(Gly48Val) Unknown g.90707130C>A g.88947373C>A - - ACTA2_000001 - PubMed: Guo 2015, Journal: Guo 2015 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - TAAD - PubMed: Guo 2015, Journal: Guo 2015 - - no France - - 0 - - 1 Johan den Dunnen
-?/. - c.174C>T likely benign r.(?) p.(=) Unknown g.90707099G>A - ACTA2(NM_001141945.1):c.174C>T (p.=) - ACTA2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.179C>A likely pathogenic r.(?) p.(Ala60Glu) Unknown g.90707094G>T - ACTA2(NM_001141945.1):c.179C>A (p.A60E) - FAS_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258+270C>T likely benign r.(=) p.(=) Unknown g.90706745G>A - ACTA2(NM_001141945.1):c.258+270C>T - ACTA2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.258+487A>G likely benign r.(=) p.(=) Unknown g.90706528T>C - ACTA2(NM_001141945.1):c.258+487A>G - ACTA2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.258+958C>T likely benign r.(=) p.(=) Unknown g.90706057G>A - ACTA2(NM_001141945.1):c.258+958C>T - ACTA2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.258+962dup likely benign r.(=) p.(=) Unknown g.90706053dup - ACTA2(NM_001141945.1):c.258+962_258+963insT - FAS_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258+1050C>G likely benign r.(=) p.(=) Unknown g.90705965G>C - ACTA2(NM_001141945.1):c.258+1050C>G - ACTA2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.258+1296G>C likely benign r.(=) p.(=) Unknown g.90705719C>G - ACTA2(NM_001141945.1):c.258+1296G>C - FAS_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258+1377A>G likely benign r.(=) p.(=) Unknown g.90705638T>C - ACTA2(NM_001141945.1):c.258+1377A>G - ACTA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.259-1373G>T likely benign r.(=) p.(=) Unknown g.90705037C>A - ACTA2(NM_001141945.1):c.259-1373G>T - ACTA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.259-136del benign r.(=) p.(=) Unknown g.90703803del - ACTA2(NM_001613.2):c.259-139delA - ACTA2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.259-104_259-103insG likely benign r.(=) p.(=) Unknown g.90703767_90703768insC - ACTA2(NM_001141945.1):c.259-104_259-103insG - FAS_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296C>G VUS r.(?) p.(Ala99Gly) Unknown g.90703627G>C - ACTA2(NM_001141945.1):c.296C>G (p.A99G) - ACTA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.323C>T VUS r.(?) p.(Thr108Met) Unknown g.90703600G>A - ACTA2(NM_001141945.1):c.323C>T (p.T108M) - FAS_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.369+30G>C benign r.(=) p.(=) Unknown g.90703524C>G - ACTA2(NM_001141945.1):c.369+30G>C - ACTA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.369+30G>C benign r.(=) p.(=) Unknown g.90703524C>G - ACTA2(NM_001141945.1):c.369+30G>C - ACTA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.369+89G>A benign r.(=) p.(=) Unknown g.90703465C>T - ACTA2(NM_001141945.1):c.369+89G>A - ACTA2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.369+93C>T likely benign r.(=) p.(=) Unknown g.90703461G>A - ACTA2(NM_001141945.1):c.369+93C>T - ACTA2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.369+108C>T benign r.(=) p.(=) Unknown g.90703446G>A - ACTA2(NM_001141945.1):c.369+108C>T - ACTA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.369+280dup likely benign r.(=) p.(=) Unknown g.90703275dup - ACTA2(NM_001141945.1):c.369+280_369+281insT - FAS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.369+425_369+426insC likely benign r.(=) p.(=) Unknown g.90703128_90703129insG - ACTA2(NM_001141945.1):c.369+425_369+426insC - FAS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.369+849C>T likely benign r.(=) p.(=) Unknown g.90702705G>A - ACTA2(NM_001141945.1):c.369+849C>T - ACTA2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.369+855T>G likely benign r.(=) p.(=) Unknown g.90702699A>C - ACTA2(NM_001141945.1):c.369+855T>G - ACTA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.370-927G>A likely benign r.(=) p.(=) Unknown g.90702553C>T - ACTA2(NM_001141945.1):c.370-927G>A - ACTA2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.370-874T>A likely benign r.(=) p.(=) Unknown g.90702500A>T - ACTA2(NM_001141945.1):c.370-874T>A - ACTA2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.370-817_370-816insC likely benign r.(=) p.(=) Unknown g.90702442_90702443insG - ACTA2(NM_001141945.1):c.370-817_370-816insC - FAS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.370-19T>C benign r.(=) p.(=) Unknown g.90701645A>G - ACTA2(NM_001141945.1):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.370-19T>C benign r.(=) p.(=) Unknown g.90701645A>G - ACTA2(NM_001141945.1):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.370-19T>C benign r.(=) p.(=) Unknown g.90701645A>G - ACTA2(NM_001141945.1):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.386T>C - r.(?) p.(Phe129Ser) Maternal (confirmed) g.90701610A>G - - - ACTA2_000099 - - - - Germline - - - 0 - DNA SEQ-NG - - AAT-6 - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.409G>A VUS r.(?) p.(Ala137Thr) Unknown g.90701587C>T - ACTA2(NM_001613.2):c.409G>A (p.A137T) - FAS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417G>A likely benign r.(?) p.(=) Unknown g.90701579C>T - ACTA2(NM_001141945.1):c.417G>A (p.=) - FAS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.419C>T likely pathogenic r.(?) p.(Ala140Val) Unknown g.90701577G>A - ACTA2(NM_001141945.1):c.419C>T (p.A140V) - FAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.439T>C benign r.(?) p.(Ser147Pro) Unknown g.90701557A>G - ACTA2(NM_001613.2):c.439T>C (p.S147P) - ACTA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.445C>T likely pathogenic r.(?) p.(Arg149Cys) Unknown g.90701551G>A - ACTA2(NM_001141945.1):c.445C>T (p.R149C) - ACTA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.445C>T pathogenic r.(?) p.(Arg149Cys) Unknown g.90701551G>A - ACTA2(NM_001141945.1):c.445C>T (p.R149C) - ACTA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.454+65G>A benign r.(=) p.(=) Unknown g.90701477C>T - ACTA2(NM_001141945.1):c.454+65G>A - ACTA2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.454+172_454+173insC likely benign r.(=) p.(=) Unknown g.90701369_90701370insG - ACTA2(NM_001141945.1):c.454+172_454+173insC - FAS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454+177_454+178insT likely benign r.(=) p.(=) Unknown g.90701364_90701365insA - ACTA2(NM_001141945.1):c.454+177_454+178insT - FAS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455-161C>T likely benign r.(=) p.(=) Unknown g.90701308G>A - ACTA2(NM_001141945.1):c.455-161C>T - ACTA2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.455-96G>A likely benign r.(=) p.(=) Unknown g.90701243C>T - ACTA2(NM_001141945.1):c.455-96G>A - ACTA2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.455-74C>T benign r.(=) p.(=) Unknown g.90701221G>A - ACTA2(NM_001141945.1):c.455-74C>T - ACTA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.455-17G>A benign r.(=) p.(=) Unknown g.90701164C>T - ACTA2(NM_001141945.1):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.455-17G>A benign r.(=) p.(=) Unknown g.90701164C>T - ACTA2(NM_001141945.1):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.465G>A likely benign r.(?) p.(=) Unknown g.90701137C>T - ACTA2(NM_001141945.1):c.465G>A (p.=) - ACTA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.471T>C likely benign r.(?) p.(=) Unknown g.90701131A>G - ACTA2(NM_001613.2):c.471T>C (p.=) - ACTA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.485C>A VUS r.(?) p.(Thr162Asn) Unknown g.90701117G>T - ACTA2(NM_001613.2):c.485C>A (p.T162N) - FAS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513T>C likely benign r.(?) p.(=) Unknown g.90701089A>G - ACTA2(NM_001613.2):c.513T>C (p.=) - ACTA2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>T likely benign r.(?) p.(=) Unknown g.90701086G>A - ACTA2(NM_001613.2):c.516C>T (p.=) - ACTA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.523C>G likely pathogenic r.(?) p.(His175Asp) Unknown g.90701079G>C - ACTA2(NM_001141945.1):c.523C>G (p.H175D) - ACTA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.523C>G VUS r.(?) p.(His175Asp) Unknown g.90701079G>C - ACTA2(NM_001141945.1):c.523C>G (p.H175D) - ACTA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.526G>A likely pathogenic r.(?) p.(Ala176Thr) Unknown g.90701076C>T - ACTA2(NM_001141945.1):c.526G>A (p.A176T) - FAS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.535C>T pathogenic r.(?) p.(Arg179Cys) Unknown g.90701067G>A - ACTA2(NM_001613.2):c.535C>T (p.R179C) - ACTA2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.536G>A pathogenic r.(?) p.(Arg179His) Unknown g.90701066C>T - ACTA2(NM_001141945.1):c.536G>A (p.R179H) - ACTA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.536G>A pathogenic r.(?) p.(Arg179His) Unknown g.90701066C>T - ACTA2(NM_001141945.1):c.536G>A (p.R179H) - ACTA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.553C>T likely pathogenic r.(?) p.(Arg185*) Unknown g.90701049G>A - ACTA2(NM_001613.2):c.553C>T (p.R185*) - ACTA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.558T>C likely benign r.(?) p.(=) Unknown g.90701044A>G - ACTA2(NM_001613.2):c.558T>C (p.=) - ACTA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.587C>G VUS r.(?) p.(Thr196Ser) Unknown g.90701015G>C - ACTA2(NM_001141945.1):c.587C>G (p.T196S) - ACTA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.607G>C VUS r.(?) p.(Val203Leu) Unknown g.90700995C>G - ACTA2(NM_001141945.1):c.607G>C (p.V203L) - ACTA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.616+192_616+194del benign r.(=) p.(=) Unknown g.90700795_90700797del - ACTA2(NM_001141945.1):c.616+192_616+194delGAG - FAS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.617-703T>G likely benign r.(=) p.(=) Unknown g.90700158A>C - ACTA2(NM_001141945.1):c.617-703T>G - ACTA2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.617-224C>T likely benign r.(=) p.(=) Unknown g.90699679G>A - ACTA2(NM_001141945.1):c.617-224C>T - ACTA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.617-163C>T likely benign r.(=) p.(=) Unknown g.90699618G>A - ACTA2(NM_001141945.1):c.617-163C>T - FAS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.623G>A VUS r.(?) p.(Arg208His) Unknown g.90699449C>T - ACTA2(NM_001141945.1):c.623G>A (p.R208H) - ACTA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.635G>A pathogenic r.(?) p.(Arg212Gln) Unknown g.90699437C>T - ACTA2(NM_001613.2):c.635G>A (p.Arg212Glu) - ACTA2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.729G>A likely benign r.(?) p.(=) Unknown g.90699343C>T - ACTA2(NM_001141945.1):c.729G>A (p.=) - FAS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.734C>T likely pathogenic r.(?) p.(Pro245Leu) Unknown g.90699338G>A - ACTA2(NM_001141945.1):c.734C>T (p.P245L) - FAS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743A>G - r.(?) p.(Gln248Arg) Unknown g.90699329T>C - - - ACTA2_000098 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - AAT-6 - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.757G>A VUS r.(?) p.(Gly253Arg) Unknown g.90699315C>T - ACTA2(NM_001613.2):c.757G>A (p.G253R) - FAS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.808G>A pathogenic r.(?) p.(Gly270Arg) Unknown g.90699264C>T - ACTA2(NM_001613.2):c.808G>A (p.G270R) - ACTA2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.808+244A>T likely benign r.(=) p.(=) Unknown g.90699020T>A - ACTA2(NM_001141945.1):c.808+244A>T - ACTA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.808+278C>T likely benign r.(=) p.(=) Unknown g.90698986G>A - ACTA2(NM_001141945.1):c.808+278C>T - FAS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809-453C>T likely benign r.(=) p.(=) Unknown g.90698452G>A - ACTA2(NM_001141945.1):c.809-453C>T - ACTA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.809-437G>A likely benign r.(=) p.(=) Unknown g.90698436C>T - ACTA2(NM_001141945.1):c.809-437G>A - FAS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.835A>G likely pathogenic r.(?) p.(Thr279Ala) Unknown g.90697973T>C - ACTA2(NM_001141945.1):c.835A>G (p.T279A) - FAS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.854T>C likely pathogenic r.(?) p.(Met285Thr) Unknown g.90697954A>G - ACTA2(NM_001141945.1):c.854T>C (p.M285T) - ACTA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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