Full data view for gene ACTN2

Information The variants shown are described using the NM_001103.3 transcript reference sequence.

733 entries on 8 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.-36C>T r.(?) p.(=) Unknown - likely benign g.236849938C>T g.236686638C>T - - ACTN2_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22C>T r.(?) p.(=) Unknown - benign g.236849952C>T g.236686652C>T ACTN2(NM_001103.3):c.-22C>T, ACTN2(NM_001103.4):c.-22C>T - ACTN2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22C>T r.(?) p.(=) Unknown - benign g.236849952C>T g.236686652C>T ACTN2(NM_001103.3):c.-22C>T, ACTN2(NM_001103.4):c.-22C>T - ACTN2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22C>T r.(?) p.(=) Unknown - benign g.236849952C>T g.236686652C>T ACTN2(NM_001103.3):c.-22C>T, ACTN2(NM_001103.4):c.-22C>T - ACTN2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.(?) p.Trp?* Unknown - pathogenic (dominant) g.? - W259X - ACTN2_000082 - Journal: Fatkin 2016 - - Germline - - - - - DNA SEQ - - CMD - Journal: Fatkin 2016 - M - - - - - - - 1 Johan den Dunnen
?/. - c.7C>T r.(?) p.(Gln3Ter) Unknown - VUS g.236849980C>T g.236686680C>T ACTN2(NM_001103.4):c.7C>T (p.Q3*) - ACTN2_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.18C>A r.(?) p.(Pro6=) Unknown - benign g.236849991C>A g.236686691C>A ACTN2(NM_001103.4):c.18C>A (p.P6=) - ACTN2_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.18C>T r.(?) p.(Pro6=) Unknown - benign g.236849991C>T g.236686691C>T ACTN2(NM_001103.4):c.18C>T (p.P6=) - ACTN2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.18C>T r.(=) p.(=) Unknown ACMG likely benign g.236849991C>T - - - ACTN2_000106 - PubMed: Pugh - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD 327 PubMed: Pugh - F - - - - - - - 1 Marco Savarese
-?/. - c.22G>A r.(?) p.(Val8Met) Unknown - likely benign g.236849995G>A g.236686695G>A ACTN2(NM_001103.3):c.22G>A (p.V8M) - ACTN2_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.26A>C r.(?) p.(Gln9Pro) Unknown - VUS g.236849999A>C g.236686699A>C ACTN2(NM_001103.3):c.26A>C (p.Q9P) - ACTN2_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.26A>G r.(?) p.(Gln9Arg) Unknown - VUS g.236849999A>G g.236686699A>G ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R) - ACTN2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26A>G r.(?) p.(Gln9Arg) Unknown - likely benign g.236849999A>G g.236686699A>G ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R) - ACTN2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26A>G r.(?) p.(Gln9Arg) Unknown - likely benign g.236849999A>G g.236686699A>G ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R) - ACTN2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26A>G r.(?) p.(Gln9Arg) Unknown - likely benign g.236849999A>G g.236686699A>G ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R) - ACTN2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26A>G r.(?) p.(Gln9Arg) Unknown - likely benign g.236849999A>G - ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R) - ACTN2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/-? 1 c.26A>G r.(?) p.(Gln9Arg) Unknown ACMG likely benign g.236849999A>G - - - ACTN2_000227 - PubMed: [Mohapatra] - - Germline/De novo (untested) ? - - - - DNA SEQ - - CMD - PubMed: Mohapatra - - - - - - - - - 1 Marco Savarese
-?/-? 1 c.26A>G r.(?) p.(Gln9Arg) Unknown ACMG likely benign g.236849999A>G - - - ACTN2_000227 - PubMed: Pugh - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD 168 PubMed: Pugh - M - - - - - - - 1 Marco Savarese
?/? 1 c.26A>G r.(?) p.(Gln9Arg) Unknown ACMG likely benign g.236849999A>G - - - ACTN2_000227 - PubMed: Burstein - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD - PubMed: Burstein - - - - - - - - - 1 Marco Savarese
-/- 1 c.26A>G r.(?) p.(Gln9Arg) Unknown ACMG benign g.236849999A>G - - - ACTN2_000227 - PubMed: Cuenca 2016 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD - PubMed: Cuenca 2016 - - - - - - - - - 1 Marco Savarese
-?/. - c.38T>A r.(?) p.(Val13Glu) Unknown - likely benign g.236850011T>A g.236686711T>A ACTN2(NM_001103.3):c.38T>A (p.V13E) - ACTN2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.48G>A r.(=) p.(=) Unknown ACMG likely benign g.236850021G>A - - - ACTN2_000418 - PubMed: Pugh - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD 328 PubMed: Pugh - F - - - - - - - 1 Marco Savarese
?/. - c.58A>G r.(?) p.(Met20Val) Unknown - VUS g.236850031A>G g.236686731A>G - - ACTN2_000337 - PubMed: Walsh 2017 - - Germline - 1/807 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.63C>T r.(?) p.(Ile21=) Unknown - likely benign g.236850036C>T g.236686736C>T - - ACTN2_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71A>C r.(?) p.(Glu24Ala) Unknown - VUS g.236850044A>C g.236686744A>C - - ACTN2_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.72G>T r.(?) p.(Glu24Asp) Unknown - VUS g.236850045G>T g.236686745G>T - - ACTN2_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76T>C r.(?) p.(Trp26Arg) Unknown - VUS g.236850049T>C g.236686749T>C - - ACTN2_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.93C>T r.(=) p.(=) Unknown ACMG likely benign g.236850066C>T - - - ACTN2_000419 - PubMed: Pugh - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD 325 PubMed: Pugh - F - - - - - - - 1 Marco Savarese
-?/. - c.126+3_126+4insCT r.spl? p.? Unknown - likely benign g.236850102_236850103insCT - - - ACTN2_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126+6del r.(=) p.(=) Unknown - likely benign g.236850105del - - - ACTN2_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126+14C>T r.(=) p.(=) Unknown - benign g.236850113C>T g.236686813C>T ACTN2(NM_001278344.2):c.-696+14C>T - ACTN2_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.127-8C>G r.(=) p.(=) Unknown - benign g.236881150C>G g.236717850C>G ACTN2(NM_001278344.2):c.-695-8C>G - ACTN2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127-3C>A r.spl? p.? Unknown - likely benign g.236881155C>A - ACTN2(NM_001278344.2):c.-695-3C>A - ACTN2_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127-3C>A r.spl? p.? Unknown - likely benign g.236881155C>A - ACTN2(NM_001278344.2):c.-695-3C>A - ACTN2_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.130T>C r.(?) p.(Phe44Leu) Unknown - VUS g.236881161T>C g.236717861T>C - - ACTN2_000338 - PubMed: Walsh 2017 - - Germline - 1/305 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 2 c.155T>G r.(?) p.(Leu52Arg) Unknown ACMG VUS g.236881186T>G - - - ACTN2_000430 - PubMed: Bruel 2019 - - Germline/De novo (untested) ? - - - - DNA ? - - MPD6 - PubMed: Bruel 2019 - ? ? - - - - - - 1 Johanna Ranta-aho
-/. - c.165C>T r.(?) p.(Ala55=) Unknown - benign g.236881196C>T g.236717896C>T ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=) - ACTN2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Ala55=) Unknown - likely benign g.236881196C>T g.236717896C>T ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=) - ACTN2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Ala55=) Unknown - likely benign g.236881196C>T - ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=) - ACTN2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.165C>T r.(=) p.(=) Unknown ACMG likely benign g.236881196C>T - - - ACTN2_000109 - PubMed: Pugh - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD 343 PubMed: Pugh - F - - - - - - - 1 Marco Savarese
-?/. - c.165C>T r.(?) p.(Ala55=) Unknown - likely benign g.236881196C>T - ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=) - ACTN2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.166G>A r.(?) p.(Gly56Ser) Unknown - VUS g.236881197G>A g.236717897G>A ACTN2(NM_001103.4):c.166G>A (p.G56S) - ACTN2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.166G>A r.(?) p.(Gly56Ser) Unknown ACMG benign g.236881197G>A - - - ACTN2_000110 - PubMed: van Lint 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMH 1022 PubMed: van Lint 2019 - - - - - - - - - 1 Marco Savarese
?/? 2 c.167G>A r.(?) p.(Gly56Asp) Unknown ACMG VUS g.236881198G>A - - - ACTN2_000386 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Marco Savarese
?/. - c.170C>G r.(?) p.(Thr57Ser) Unknown - VUS g.236881201C>G g.236717901C>G - - ACTN2_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Thr57Ile) Unknown - VUS g.236881201C>T g.236717901C>T ACTN2(NM_001103.4):c.170C>T (p.T57I) - ACTN2_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.175A>G r.(?) p.(Ile59Val) Unknown ACMG VUS g.236881206A>G - - - ACTN2_000390 - - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Marco Savarese
-?/-? 2 c.186C>T r.(=) p.(=) Unknown ACMG likely benign g.236881217C>T - - - ACTN2_000420 - PubMed: Pugh - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD 169 PubMed: Pugh - M - - - - - - - 1 Marco Savarese
?/? 2 c.196T>A r.(?) p.(Phe66Ile) Unknown ACMG VUS g.236881227T>A - - - ACTN2_000387 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - Healthy/Control - - - - - - - - - - - 1 Marco Savarese
?/? 2 c.203A>G r.(?) p.(Asn68Ser) Unknown ACMG VUS g.236881234A>G - - - ACTN2_000388 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - Healthy/Control - - - - - - - - - - - 1 Marco Savarese
?/. - c.241+6T>C r.(=) p.(=) Unknown - VUS g.236881278T>C g.236717978T>C ACTN2(NM_001103.3):c.241+6T>C - ACTN2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2i_6 c.241+413_566del r.? p.? Unknown ACMG VUS g.236881685_236891007del g.236718385_236727707del chr1:236881685_236891007del - ACTN2_000358 - PubMed: Singer 2021 - - Germline ? - - - - DNA SEQ-NG - WES LVNC AHM1 PubMed: Singer 2021 - - - - - - - - - 1 Marco Savarese
-?/. - c.242-6C>T r.(=) p.(=) Unknown - likely benign g.236882188C>T g.236718888C>T - - ACTN2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.253C>T r.(?) p.(Pro85Ser) Unknown ACMG VUS g.236882205C>T - - - ACTN2_000447 - PubMed: Robyns - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMH - PubMed: Robyns - - - - - - - - - 1 Marco Savarese
?/. - c.259C>T r.(?) p.(Pro87Ser) Unknown - VUS g.236882211C>T g.236718911C>T - - ACTN2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274A>G r.(?) p.(Met92Val) Unknown - VUS g.236882226A>G g.236718926A>G - - ACTN2_000339 - PubMed: Walsh 2017 - - Germline - 1/807 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 3 c.278G>A r.(?) p.(Arg93Gln) Unknown ACMG VUS g.236882230G>A - - - ACTN2_000436 - PubMed: Marschall 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - CMD1AA;CMH23 - PubMed: Marschall 2019 - ? ? - - - - - - 1 Johanna Ranta-aho
?/. - c.278G>A r.(?) p.(Arg93Gln) Unknown - VUS g.236882230G>A - ACTN2(NM_001103.2):c.278G>A (p.(Arg93Gln)) - ACTN2_000436 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.284A>C r.(?) p.(His95Pro) Unknown - VUS g.236882236A>C g.236718936A>C ACTN2(NM_001103.4):c.284A>C (p.H95P) - ACTN2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.302A>G r.(?) p.(Asn101Ser) Unknown ACMG VUS g.236882254A>G - - - ACTN2_000391 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Marco Savarese
+?/+? - c.332G>T r.(?) p.(Gly111Val) Unknown - likely pathogenic (dominant) g.236882284G>T - - - ACTN2_000368 - PubMed: Theis 2006 - - Germline - - - - - DNA ? - - CMH Pat1 PubMed: Theis 2006 - M no - - - - - - 1 Marco Savarese
?/. - c.343G>A r.(?) p.(Val115Met) Unknown - VUS g.236882295G>A g.236718995G>A - - ACTN2_000340 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/? 3 c.343G>A r.(?) p.(Val115Met) Unknown ACMG VUS g.236882295G>A - - - ACTN2_000340 - PubMed: Zimmerman - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD - PubMed: Zimmerman - ? - - - - - - - 1 Marco Savarese
+?/. 3 c.343G>A r.(?) p.(Val115Met) Unknown ACMG VUS g.236882295G>A - - - ACTN2_000340 - PubMed: Pugh - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD 127 PubMed: Pugh Same patient described in {Walsh:27532257} F - - - - - - - 1 Marco Savarese
?/. - c.343G>C r.(?) p.(Val115Leu) Unknown - VUS g.236882295G>C g.236718995G>C ACTN2(NM_001103.3):c.343G>C (p.V115L), ACTN2(NM_001103.4):c.343G>C (p.V115L) - ACTN2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>C r.(?) p.(Val115Leu) Unknown - VUS g.236882295G>C g.236718995G>C ACTN2(NM_001103.3):c.343G>C (p.V115L), ACTN2(NM_001103.4):c.343G>C (p.V115L) - ACTN2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351= r.(=) p.(Ile117=) Unknown - benign g.236882303T>C - ACTN2(NM_001103.4):c.351T>C (p.I117=) - ACTN2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351= r.(=) p.(Ile117=) Unknown - benign g.236882303T>C - ACTN2(NM_001103.4):c.351T>C (p.I117=) - ACTN2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354C>T r.(?) p.(Gly118=) Unknown - likely benign g.236882306C>T g.236719006C>T ACTN2(NM_001103.4):c.354C>T (p.G118=) - ACTN2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.355G>A r.(?) p.(Ala119Thr) Unknown ACMG likely pathogenic g.236882307G>A - - - ACTN2_000351 ACMG: PM2, PP1_moderate, PP3, PS4_supporting PubMed: Isbister 2020 - - Unknown ? - - - - DNA SEQ-NG-I - - CM BON1 PubMed: Isbister 2020 - M - Australia Europe, north-west - - - - 1 Marco Savarese
+/. - c.355G>A r.(?) p.(Ala119Thr) Unknown - pathogenic g.236882307G>A - ACTN2(NM_001103.4):c.355G>A (p.A119T) - ACTN2_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366_370del r.(?) p.(Val123TrpfsTer25) Unknown - likely benign g.236883409_236883413del g.236720109_236720113del ACTN2(NM_001103.4):c.366_370delTGTTG (p.V123Wfs*25) - ACTN2_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378= r.(=) p.(Asn126=) Unknown - benign g.236883421C>T - ACTN2(NM_001103.4):c.378C>T (p.N126=) - ACTN2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378= r.(=) p.(Asn126=) Unknown - benign g.236883421C>T - ACTN2(NM_001103.4):c.378C>T (p.N126=) - ACTN2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.392T>C r.(?) p.(Leu131Pro) Parent #1 - pathogenic (dominant) g.236883435T>C g.236720135T>C - - ACTN2_000289 - PubMed: Savarese - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam4 PubMed: Savarese family - no Sweden - - - - - 1 Johan den Dunnen
?/? 4 c.401T>A r.(?) p.(Ile134Asn) Unknown ACMG VUS g.236883444T>A - - - ACTN2_000392 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Marco Savarese
?/. - c.407C>G r.(?) p.(Thr136Ser) Unknown - VUS g.236883450C>G - ACTN2(NM_001103.3):c.407C>G (p.(Thr136Ser)) - ACTN2_000490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? - c.411C>A r.(=) p.(=) Unknown ACMG likely benign g.236883454C>A - - - ACTN2_000448 - PubMed: Micheu - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMH - PubMed: Micheu - - - - - - - - - 1 Marco Savarese
?/. - c.419G>A r.(?) p.(Arg140His) Unknown - VUS g.236883462G>A g.236720162G>A - - ACTN2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.432_433insT r.(?) p.(Asp145Ter) Unknown - VUS g.236883475_236883476insT g.236720175_236720176insT ACTN2(NM_001103.4):c.432_433insT (p.D145*) - ACTN2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.433delinsTT r.(?) p.(Asp145Leufs*5) Unknown ACMG likely pathogenic g.236883476delinsTT - - - ACTN2_000443 - PubMed: van Lint 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - CMD1AA;CMH23 612 PubMed: van Lint 2019 - ? ? - - - - - - 1 Johanna Ranta-aho
?/. - c.433G>T r.(?) p.(Asp145Tyr) Unknown - VUS g.236883476G>T g.236720176G>T ACTN2(NM_001103.4):c.433G>T (p.D145Y) - ACTN2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441G>A r.(?) p.(Ser147=) Unknown - benign g.236883484G>A g.236720184G>A ACTN2(NM_001103.3):c.441G>A (p.S147=), ACTN2(NM_001103.4):c.441G>A (p.S147=) - ACTN2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441G>A r.(?) p.(Ser147=) Unknown - benign g.236883484G>A - ACTN2(NM_001103.3):c.441G>A (p.S147=), ACTN2(NM_001103.4):c.441G>A (p.S147=) - ACTN2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449-3_449-2insTTCT r.spl? p.? Unknown - likely benign g.236889230_236889231insTTCT g.236725930_236725931insTTCT ACTN2(NM_001278344.2):c.-373-3_-373-2insTTCT - ACTN2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.496G>C r.(?) p.(Ala166Pro) Unknown ACMG VUS g.236889280G>C - - - ACTN2_000393 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Marco Savarese
?/. - c.508A>G r.(?) p.(Asn170Asp) Unknown - VUS g.236889292A>G g.236725992A>G ACTN2(NM_001103.4):c.508A>G (p.N170D) - ACTN2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.508A>G r.(?) p.(Asn170Asp) Unknown ACMG VUS g.236889292A>G - - - ACTN2_000239 - PubMed: van Lint 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CM 744 PubMed: van Lint 2019 - - - - - - - - - 1 Marco Savarese
?/. - c.517A>G r.(?) p.(Ile173Val) Unknown - VUS g.236889301A>G g.236726001A>G ACTN2(NM_001103.4):c.517A>G (p.I173V) - ACTN2_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.517A>G r.(?) p.(Ile173Val) Unknown ACMG benign g.236889301A>G - - - ACTN2_000240 - PubMed: van Lint 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMH 1607 PubMed: van Lint 2019 - - - - - - - - - 1 Marco Savarese
+?/. 5 c.523A>T r.(?) p.(Asn175Tyr) Unknown ACMG VUS g.236889307A>T - - - ACTN2_000428 - PubMed: Kostareva 2016 - - Unknown ? - - - - DNA SEQ-NG - - CMD1AA;CMH23 - PubMed: Kostareva 2016 - ? ? - - - - - - 1 Johanna Ranta-aho
?/. - c.536G>T r.(?) p.(Ser179Ile) Unknown - VUS g.236889320G>T g.236726020G>T ACTN2(NM_001103.4):c.536G>T (p.S179I) - ACTN2_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.536+10C>T r.(=) p.(=) Unknown - benign g.236889330C>T g.236726030C>T ACTN2(NM_001103.3):c.536+10C>T, ACTN2(NM_001103.4):c.536+10C>T, ACTN2(NM_001278344.2):c.-286+10C>T - ACTN2_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536+10C>T r.(=) p.(=) Unknown - likely benign g.236889330C>T g.236726030C>T ACTN2(NM_001103.3):c.536+10C>T, ACTN2(NM_001103.4):c.536+10C>T, ACTN2(NM_001278344.2):c.-286+10C>T - ACTN2_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.536+10C>T r.(=) p.(=) Unknown - benign g.236889330C>T g.236726030C>T ACTN2(NM_001103.3):c.536+10C>T, ACTN2(NM_001103.4):c.536+10C>T, ACTN2(NM_001278344.2):c.-286+10C>T - ACTN2_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.536+18C>T r.(=) p.(=) Unknown - benign g.236889338C>T - ACTN2(NM_001278344.2):c.-286+18C>T - ACTN2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537-14C>T r.(=) p.(=) Unknown - benign g.236890964C>T - ACTN2(NM_001278344.2):c.-285-14C>T - ACTN2_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537-11C>T r.(=) p.(=) Unknown - benign g.236890967C>T - ACTN2(NM_001278344.2):c.-285-11C>T - ACTN2_000361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.537-10G>A r.(=) p.(=) Unknown - VUS g.236890968G>A g.236727668G>A ACTN2(NM_001103.3):c.537-10G>A - ACTN2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546T>C r.(?) p.(Asp182=) Unknown - benign g.236890987T>C g.236727687T>C ACTN2(NM_001103.3):c.546T>C (p.D182=), ACTN2(NM_001103.4):c.546T>C (p.D182=) - ACTN2_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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