All transcript variants in gene ACTA2

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

147 entries on 2 pages. Showing entries 1 - 100.
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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.-38202C>G r.(?) p.(=) - likely benign g.90750666G>C g.88990909G>C - - FAS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-144C>G r.(?) p.(=) - likely benign g.90712608G>C g.88952851G>C ACTA2(NM_001141945.1):c.-23-3898C>G - ACTA2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-24+395_-24+396insA r.(=) p.(=) - likely benign g.90712092_90712093insT g.88952335_88952336insT ACTA2(NM_001141945.1):c.-23-3383_-23-3382insA - FAS_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-24+745C>T r.(=) p.(=) - likely benign g.90711743G>A g.88951986G>A ACTA2(NM_001141945.1):c.-23-3033C>T - ACTA2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-24+1187T>C r.(=) p.(=) - likely benign g.90711301A>G g.88951544A>G ACTA2(NM_001141945.1):c.-23-2591T>C - ACTA2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-24+1513C>T r.(=) p.(=) - likely benign g.90710975G>A g.88951218G>A ACTA2(NM_001141945.1):c.-23-2265C>T - ACTA2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-23-867A>T r.(=) p.(=) - likely benign g.90709577T>A g.88949820T>A ACTA2(NM_001141945.1):c.-23-867A>T - ACTA2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-23-866T>C r.(=) p.(=) - likely benign g.90709576A>G g.88949819A>G ACTA2(NM_001141945.1):c.-23-866T>C - ACTA2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-23-615T>G r.(=) p.(=) - likely benign g.90709325A>C g.88949568A>C ACTA2(NM_001141945.1):c.-23-615T>G - ACTA2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-23-461G>A r.(=) p.(=) - likely benign g.90709171C>T g.88949414C>T ACTA2(NM_001141945.1):c.-23-461G>A - ACTA2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.1A>G r.(?) p.(Met1?) - pathogenic g.90708687T>C g.88948930T>C - - ACTA2_000100 4 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs794728019 Germline - 4/2775 individuals - 0 - Mohammed Faruq
?/. - c.13G>C r.(?) p.(Glu5Gln) - VUS g.90708675C>G g.88948918C>G ACTA2(NM_001141945.1):c.13G>C (p.E5Q) - ACTA2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.20G>A r.(?) p.(Ser7Asn) - VUS g.90708668C>T g.88948911C>T - - FAS_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.42T>C r.(?) p.(Asn14=) - likely benign g.90708646A>G g.88948889A>G ACTA2(NM_001141945.1):c.42T>C (p.N14=) - ACTA2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.107T>C r.(?) p.(Ile36Thr) - VUS g.90708581A>G g.88948824A>G ACTA2(NM_001141945.1):c.107T>C (p.I36T) - FAS_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.115C>T r.(?) p.(Arg39Cys) - pathogenic g.90708573G>A g.88948816G>A ACTA2(NM_001141945.1):c.115C>T (p.R39C) - ACTA2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.115C>T r.(?) p.(Arg39Cys) - pathogenic g.90708573G>A g.88948816G>A ACTA2(NM_001141945.1):c.115C>T (p.R39C) - ACTA2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.116G>A r.(?) p.(Arg39His) - pathogenic g.90708572C>T g.88948815C>T ACTA2(NM_001141945.1):c.116G>A (p.R39H) - ACTA2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.129+100T>C r.(=) p.(=) - likely benign g.90708459A>G g.88948702A>G ACTA2(NM_001141945.1):c.129+100T>C - ACTA2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.129+433C>G r.(=) p.(=) - likely benign g.90708126G>C g.88948369G>C ACTA2(NM_001141945.1):c.129+433C>G - ACTA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.129+563T>G r.(=) p.(=) - likely benign g.90707996A>C g.88948239A>C ACTA2(NM_001141945.1):c.129+563T>G - ACTA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.129+623T>C r.(=) p.(=) - likely benign g.90707936A>G g.88948179A>G ACTA2(NM_001141945.1):c.129+623T>C - ACTA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.130-254T>C r.(=) p.(=) - likely benign g.90707397A>G g.88947640A>G ACTA2(NM_001141945.1):c.130-254T>C - ACTA2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.130-25C>T r.(=) p.(=) - benign g.90707168G>A g.88947411G>A ACTA2(NM_001613.2):c.130-25C>T - ACTA2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.133G>A r.(?) p.(Val45Met) - VUS g.90707140C>T g.88947383C>T ACTA2(NM_001613.2):c.133G>A (p.V45M) - ACTA2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.134T>G r.(?) p.(Val45Gly) - VUS g.90707139A>C g.88947382A>C ACTA2(NM_001613.2):c.134T>G (p.V45G) - ACTA2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.143G>T r.(?) p.(Gly48Val) - likely pathogenic g.90707130C>A g.88947373C>A - - ACTA2_000001 - PubMed: Guo 2015, Journal: Guo 2015 - - Unknown - - - 0 - Johan den Dunnen
-?/. - c.174C>T r.(?) p.(Asp58=) - likely benign g.90707099G>A g.88947342G>A ACTA2(NM_001141945.1):c.174C>T (p.D58=) - ACTA2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.175G>A r.(?) p.(Glu59Lys) - VUS g.90707098C>T g.88947341C>T ACTA2(NM_001613.2):c.175G>A (p.E59K) - FAS_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.179C>A r.(?) p.(Ala60Glu) - likely pathogenic g.90707094G>T g.88947337G>T ACTA2(NM_001141945.1):c.179C>A (p.A60E) - FAS_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.258+270C>T r.(=) p.(=) - likely benign g.90706745G>A g.88946988G>A ACTA2(NM_001141945.1):c.258+270C>T - ACTA2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.258+487A>G r.(=) p.(=) - likely benign g.90706528T>C g.88946771T>C ACTA2(NM_001141945.1):c.258+487A>G - ACTA2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.258+958C>T r.(=) p.(=) - likely benign g.90706057G>A g.88946300G>A ACTA2(NM_001141945.1):c.258+958C>T - ACTA2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.258+962dup r.(=) p.(=) - likely benign g.90706053dup g.88946296dup ACTA2(NM_001141945.1):c.258+962dupT - FAS_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.258+1050C>G r.(=) p.(=) - likely benign g.90705965G>C g.88946208G>C ACTA2(NM_001141945.1):c.258+1050C>G - ACTA2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.258+1296G>C r.(=) p.(=) - likely benign g.90705719C>G g.88945962C>G ACTA2(NM_001141945.1):c.258+1296G>C - FAS_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.258+1377A>G r.(=) p.(=) - likely benign g.90705638T>C g.88945881T>C ACTA2(NM_001141945.1):c.258+1377A>G - ACTA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.259-1373G>T r.(=) p.(=) - likely benign g.90705037C>A g.88945280C>A ACTA2(NM_001141945.1):c.259-1373G>T - ACTA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.259-136del r.(=) p.(=) - benign g.90703803del g.88944046del ACTA2(NM_001613.2):c.259-136delA - ACTA2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.259-104_259-103insG r.(=) p.(=) - likely benign g.90703767_90703768insC g.88944010_88944011insC ACTA2(NM_001141945.1):c.259-104_259-103insG - FAS_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.296C>G r.(?) p.(Ala99Gly) - VUS g.90703627G>C g.88943870G>C ACTA2(NM_001141945.1):c.296C>G (p.A99G) - ACTA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.323C>T r.(?) p.(Thr108Met) - VUS g.90703600G>A g.88943843G>A ACTA2(NM_001141945.1):c.323C>T (p.T108M) - FAS_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.369+30G>C r.(=) p.(=) - benign g.90703524C>G g.88943767C>G ACTA2(NM_001141945.1):c.369+30G>C, ACTA2(NM_001613.2):c.369+30G>C - ACTA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.369+30G>C r.(=) p.(=) - benign g.90703524C>G g.88943767C>G ACTA2(NM_001141945.1):c.369+30G>C, ACTA2(NM_001613.2):c.369+30G>C - ACTA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.369+89G>A r.(=) p.(=) - benign g.90703465C>T g.88943708C>T ACTA2(NM_001141945.1):c.369+89G>A - ACTA2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.369+93C>T r.(=) p.(=) - likely benign g.90703461G>A g.88943704G>A ACTA2(NM_001141945.1):c.369+93C>T - ACTA2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.369+108C>T r.(=) p.(=) - benign g.90703446G>A g.88943689G>A ACTA2(NM_001141945.1):c.369+108C>T - ACTA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.369+280dup r.(=) p.(=) - likely benign g.90703275dup g.88943518dup ACTA2(NM_001141945.1):c.369+280dupT - FAS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.369+425_369+426insC r.(=) p.(=) - likely benign g.90703128_90703129insG g.88943371_88943372insG ACTA2(NM_001141945.1):c.369+425_369+426insC - FAS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.369+849C>T r.(=) p.(=) - likely benign g.90702705G>A g.88942948G>A ACTA2(NM_001141945.1):c.369+849C>T - ACTA2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.369+855T>G r.(=) p.(=) - likely benign g.90702699A>C g.88942942A>C ACTA2(NM_001141945.1):c.369+855T>G - ACTA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.370-927G>A r.(=) p.(=) - likely benign g.90702553C>T g.88942796C>T ACTA2(NM_001141945.1):c.370-927G>A - ACTA2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.370-874T>A r.(=) p.(=) - likely benign g.90702500A>T g.88942743A>T ACTA2(NM_001141945.1):c.370-874T>A - ACTA2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.370-817_370-816insC r.(=) p.(=) - likely benign g.90702442_90702443insG g.88942685_88942686insG ACTA2(NM_001141945.1):c.370-817_370-816insC - FAS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.370-19T>C r.(=) p.(=) - benign g.90701645A>G g.88941888A>G ACTA2(NM_001141945.1):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.370-19T>C r.(=) p.(=) - benign g.90701645A>G g.88941888A>G ACTA2(NM_001141945.1):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.370-19T>C r.(=) p.(=) - benign g.90701645A>G g.88941888A>G ACTA2(NM_001141945.1):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.386T>C r.(?) p.(Phe129Ser) - VUS g.90701610A>G g.88941853A>G - - ACTA2_000099 - - - - Germline - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.409G>A r.(?) p.(Ala137Thr) - VUS g.90701587C>T g.88941830C>T ACTA2(NM_001613.2):c.409G>A (p.A137T) - FAS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.417G>A r.(?) p.(Gln139=) - likely benign g.90701579C>T g.88941822C>T ACTA2(NM_001141945.1):c.417G>A (p.Q139=) - FAS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.419C>T r.(?) p.(Ala140Val) - likely pathogenic g.90701577G>A g.88941820G>A ACTA2(NM_001141945.1):c.419C>T (p.A140V) - FAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.439T>C r.(?) p.(Ser147Pro) - benign g.90701557A>G g.88941800A>G ACTA2(NM_001613.2):c.439T>C (p.S147P) - ACTA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.445C>T r.(?) p.(Arg149Cys) - likely pathogenic g.90701551G>A g.88941794G>A ACTA2(NM_001141945.1):c.445C>T (p.R149C), ACTA2(NM_001613.2):c.445C>T (p.R149C) - ACTA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.445C>T r.(?) p.(Arg149Cys) - pathogenic g.90701551G>A g.88941794G>A ACTA2(NM_001141945.1):c.445C>T (p.R149C), ACTA2(NM_001613.2):c.445C>T (p.R149C) - ACTA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.454+65G>A r.(=) p.(=) - benign g.90701477C>T g.88941720C>T ACTA2(NM_001141945.1):c.454+65G>A - ACTA2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.454+172_454+173insC r.(=) p.(=) - likely benign g.90701369_90701370insG g.88941612_88941613insG ACTA2(NM_001141945.1):c.454+172_454+173insC - FAS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.454+177_454+178insT r.(=) p.(=) - likely benign g.90701364_90701365insA g.88941607_88941608insA ACTA2(NM_001141945.1):c.454+177_454+178insT - FAS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.455-161C>T r.(=) p.(=) - likely benign g.90701308G>A g.88941551G>A ACTA2(NM_001141945.1):c.455-161C>T - ACTA2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.455-96G>A r.(=) p.(=) - likely benign g.90701243C>T g.88941486C>T ACTA2(NM_001141945.1):c.455-96G>A - ACTA2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.455-74C>T r.(=) p.(=) - benign g.90701221G>A g.88941464G>A ACTA2(NM_001141945.1):c.455-74C>T - ACTA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.455-17G>A r.(=) p.(=) - benign g.90701164C>T g.88941407C>T ACTA2(NM_001141945.1):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.455-17G>A r.(=) p.(=) - benign g.90701164C>T g.88941407C>T ACTA2(NM_001141945.1):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.455-17G>A r.(=) p.(=) - benign g.90701164C>T g.88941407C>T ACTA2(NM_001141945.1):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.455-5C>T r.spl? p.? - - g.90701152G>A - ACTA2(NM_001613.2):c.455-5C>T - chr10_005193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.465G>A r.(?) p.(Leu155=) - likely benign g.90701137C>T g.88941380C>T ACTA2(NM_001141945.1):c.465G>A (p.L155=) - ACTA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.471T>C r.(?) p.(Ser157=) - likely benign g.90701131A>G g.88941374A>G ACTA2(NM_001613.2):c.471T>C (p.S157=) - ACTA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.485C>A r.(?) p.(Thr162Asn) - VUS g.90701117G>T g.88941360G>T ACTA2(NM_001613.2):c.485C>A (p.T162N) - FAS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.513T>C r.(?) p.(Tyr171=) - likely benign g.90701089A>G g.88941332A>G ACTA2(NM_001613.2):c.513T>C (p.=) - ACTA2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.516C>T r.(?) p.(Ala172=) - likely benign g.90701086G>A g.88941329G>A ACTA2(NM_001613.2):c.516C>T (p.=) - ACTA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.523C>G r.(?) p.(His175Asp) - likely pathogenic g.90701079G>C g.88941322G>C ACTA2(NM_001141945.1):c.523C>G (p.H175D), ACTA2(NM_001613.2):c.523C>G (p.H175D) - ACTA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.523C>G r.(?) p.(His175Asp) - VUS g.90701079G>C g.88941322G>C ACTA2(NM_001141945.1):c.523C>G (p.H175D), ACTA2(NM_001613.2):c.523C>G (p.H175D) - ACTA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.526G>A r.(?) p.(Ala176Thr) - likely pathogenic g.90701076C>T g.88941319C>T ACTA2(NM_001141945.1):c.526G>A (p.A176T) - FAS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.535C>T r.(?) p.(Arg179Cys) - pathogenic g.90701067G>A g.88941310G>A ACTA2(NM_001613.2):c.535C>T (p.R179C) - ACTA2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.536G>A r.(?) p.(Arg179His) - pathogenic g.90701066C>T g.88941309C>T ACTA2(NM_001141945.1):c.536G>A (p.R179H), ACTA2(NM_001613.2):c.536G>A (p.R179H) - ACTA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.536G>A r.(?) p.(Arg179His) - pathogenic g.90701066C>T g.88941309C>T ACTA2(NM_001141945.1):c.536G>A (p.R179H), ACTA2(NM_001613.2):c.536G>A (p.R179H) - ACTA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.553C>T r.(?) p.(Arg185Ter) - likely pathogenic g.90701049G>A g.88941292G>A ACTA2(NM_001141945.1):c.553C>T (p.(Arg185Ter)), ACTA2(NM_001613.2):c.553C>T (p.R185*) - ACTA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.553C>T r.(?) p.(Arg185Ter) - VUS g.90701049G>A g.88941292G>A ACTA2(NM_001141945.1):c.553C>T (p.(Arg185Ter)), ACTA2(NM_001613.2):c.553C>T (p.R185*) - ACTA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.558T>C r.(?) p.(Asp186=) - likely benign g.90701044A>G g.88941287A>G ACTA2(NM_001613.2):c.558T>C (p.=) - ACTA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.587C>A r.(?) p.(Thr196Asn) - likely pathogenic g.90701015G>T g.88941258G>T - - FAS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.587C>G r.(?) p.(Thr196Ser) - VUS g.90701015G>C g.88941258G>C ACTA2(NM_001141945.1):c.587C>G (p.T196S) - ACTA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.607G>C r.(?) p.(Val203Leu) - VUS g.90700995C>G g.88941238C>G ACTA2(NM_001141945.1):c.607G>C (p.V203L) - ACTA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.616+192_616+194del r.(=) p.(=) - benign g.90700795_90700797del g.88941038_88941040del ACTA2(NM_001141945.1):c.616+192_616+194delGAG - FAS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.617-703T>G r.(=) p.(=) - likely benign g.90700158A>C g.88940401A>C ACTA2(NM_001141945.1):c.617-703T>G - ACTA2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.617-224C>T r.(=) p.(=) - likely benign g.90699679G>A g.88939922G>A ACTA2(NM_001141945.1):c.617-224C>T - ACTA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.617-163C>T r.(=) p.(=) - likely benign g.90699618G>A g.88939861G>A ACTA2(NM_001141945.1):c.617-163C>T - FAS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.623G>A r.(?) p.(Arg208His) - VUS g.90699449C>T g.88939692C>T ACTA2(NM_001141945.1):c.623G>A (p.R208H) - ACTA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.635G>A r.(?) p.(Arg212Gln) - pathogenic g.90699437C>T g.88939680C>T - - ACTA2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.729G>A r.(?) p.(Glu243=) - likely benign g.90699343C>T g.88939586C>T ACTA2(NM_001141945.1):c.729G>A (p.E243=) - FAS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.734C>T r.(?) p.(Pro245Leu) - likely pathogenic g.90699338G>A g.88939581G>A ACTA2(NM_001141945.1):c.734C>T (p.P245L) - FAS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.743A>G r.(?) p.(Gln248Arg) - VUS g.90699329T>C g.88939572T>C - - ACTA2_000098 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
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