Full data view for gene ACTG2

Information The variants shown are described using the NM_001615.3 transcript reference sequence.

106 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.-37+3A>G r.spl? p.? Unknown - benign g.74120181A>G g.73893054A>G - - ACTG2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-36-12G>C r.(=) p.(=) Unknown - benign g.74128391G>C g.73901264G>C - - ACTG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6C>T r.(?) p.(=) Unknown - benign g.74128433C>T g.73901306C>T - - ACTG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.805+1_806-1)_(*78_?)del r.? p.? Unknown - pathogenic (dominant) g.(74141999_74143710)_(74146780_?)del g.(73914872_73916583)_(73919653_?)del del ex8-9 - ACTG2_000014 - PubMed: Lee 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM 1 PubMed: Lee 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.10G>C r.(?) p.(Glu4Gln) Unknown - VUS g.74128448G>C - ACTG2(NM_001615.3):c.10G>C (p.(Glu4Gln)) - ACTG2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.113G>A r.(?) p.(Arg38His) Unknown - pathogenic (dominant) g.74128551G>A g.73901424G>A - - ACTG2_000026 - PubMed: Matera 2016 ClinVar-000256215 - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S24 PubMed: Matera 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.116C>G r.(?) p.(Pro39Arg) Unknown - pathogenic g.74128554C>G g.73901427C>G - - ACTG2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.116C>G r.(?) p.(Pro39Arg) Unknown - pathogenic (dominant) g.74128554C>G g.73901427C>G - - ACTG2_000009 - PubMed: Lee 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM 2 PubMed: Lee 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.118C>T r.(?) p.(Arg40Cys) Unknown - pathogenic (dominant) g.74128556C>T g.73901429C>T - - ACTG2_000027 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam26-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.118C>T r.(?) p.(Arg40Cys) Unknown - pathogenic (dominant) g.74128556C>T g.73901429C>T - - ACTG2_000027 - PubMed: Halim 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S6 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.118C>T r.(?) p.(Arg40Cys) Unknown - pathogenic (dominant) g.74128556C>T g.73901429C>T - - ACTG2_000027 - PubMed: Ravenscroft 2018 - - De novo - - - - - DNA SEQ - - VSCM Pat19 PubMed: Ravenscroft 2018 2-generation family, 1 affected F - Australia - - - - - 1 Johan den Dunnen
+/. - c.119G>A r.(?) p.(Arg40His) Unknown - pathogenic (dominant) g.74128557G>A g.73901430G>A - - ACTG2_000028 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam12-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.119G>A r.(?) p.(Arg40His) Paternal (confirmed) - pathogenic (dominant) g.74128557G>A g.73901430G>A - - ACTG2_000028 - PubMed: Wangler 2014 - - Germline yes - - - - DNA SEQ - - VSCM Fam34-1 PubMed: Wangler 2014 4-generation family, 6 affected (3F, 3M) F;M - - - - - - - 1 Johan den Dunnen
+/. - c.119G>A r.(?) p.(Arg40His) Parent #1 - pathogenic (dominant) g.74128557G>A g.73901430G>A - - ACTG2_000028 - PubMed: Milunsky 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES VSCM FamBCase5 PubMed: Milunsky 2017 2-generation family, 3 affected (3M) M - United States - - - - - 1 Johan den Dunnen
+/. - c.119G>A r.(?) p.(Arg40His) Unknown - pathogenic (dominant) g.74128557G>A g.73901430G>A - - ACTG2_000028 - PubMed: Ravenscroft 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Pat2 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - 1 Johan den Dunnen
+/. - c.119G>A r.(?) p.(Arg40His) Parent #1 - pathogenic g.74128557G>A g.73901430G>A - - ACTG2_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587777386 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.119G>A r.(?) p.(Arg40His) Unknown - pathogenic g.74128557G>A - - - ACTG2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124dup r.(?) p.(Gln42Profs*17) Unknown - VUS g.74128562dup g.73901435dup 122_123insC - ACTG2_000021 not associated with disease PubMed: Wangler 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control - PubMed: Wangler 2014 from local WES database - - United States - - - - - 1 Johan den Dunnen
-/. - c.127-13T>C r.(=) p.(=) Unknown - benign g.74129474T>C g.73902347T>C - - ACTG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.134T>C r.(?) p.(Met45Thr) Unknown - pathogenic (dominant) g.74129494T>C g.73902367T>C - - ACTG2_000029 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam14-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.187C>G r.(?) p.(Arg63Gly) Unknown - pathogenic (dominant) g.74129547C>G g.73902420C>G - - ACTG2_000017 - PubMed: Wangler 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Fam17-1 PubMed: Wangler 2014 - - - - - - - - - 1 Johan den Dunnen
+/. - c.187C>G r.(?) p.(Arg63Gly) Paternal (confirmed) - pathogenic (dominant) g.74129547C>G g.73902420C>G - - ACTG2_000017 mosaicism father PubMed: Milunsky 2017 - rs864309491 Germline/De novo (untested) - - - - - DNA SEQ - - VSCM - PubMed: Milunsky 2017 2-generation family, 1 affected fetus - - United States - - - - - 1 Johan den Dunnen
?/. - c.187C>T r.(?) p.(Arg63*) Unknown - VUS g.74129547C>T g.73902420C>T C187T - ACTG2_000019 not associated with a phenotype PubMed: Wangler 2014 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - Healthy/Control control PubMed: Wangler 2014 unaffected parent local WES database - - United States - - - - - 1 Johan den Dunnen
+/. - c.188G>A r.(?) p.(Arg63Gln) Unknown - pathogenic (dominant) g.74129548G>A g.73902421G>A - - ACTG2_000030 - PubMed: Halim 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S1 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+?/. - c.188G>T r.(?) p.(Arg63Leu) Unknown ACMG likely pathogenic (dominant) g.74129548G>T - - - ACTG2_000042 ACMG: PS2, PM5, PM2_SUP, PP2, PP3; confirmed de novo; p.(Arg63Gln) and p.(Arg63Gly) are known path variants - - - De novo yes - - - - DNA SEQ-NG-I - - MMIHS 194653 - prenatal trio-exom after ultra-sound abnormalities F no - - - - - - 1 Andreas Laner
-?/. - c.255+190A>G r.(?) p.(=) Parent #1 - likely benign g.74129805A>G g.73902678A>G Uc010fex.1 A310G (N104D) - ACTG2_000022 - PubMed: Wangler 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control - PubMed: Wangler 2014 from local WES database - - United States - - - - - 2 Johan den Dunnen
+/. - c.255+210C>A r.(=) p.(=) Parent #1 - pathogenic (dominant) g.74129825C>A g.73902698C>A Uc010fex 330C>A (F110L) - ACTG2_000018 - PubMed: Wangler 2014 - - Germline - - - - - DNA SEQ - - VSCM Fam19-4 PubMed: Wangler 2014 2-generation family, 2 affected sisters F - - - - - - - 2 Johan den Dunnen
-?/. - c.255+210C>A r.(=) p.(=) Unknown - likely benign g.74129825C>A - ACTG2(NM_001615.4):c.255+210C>A - ACTG2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.256-3T>C r.spl? p.? Unknown - benign g.74135797T>C g.73908670T>C - - ACTG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.337C>G r.(?) p.(Pro113Ala) Unknown - likely pathogenic (dominant) g.74135881C>G g.73908754C>G - - ACTG2_000045 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED3501.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
-/. - c.354A>G r.(?) p.(Glu118=) Unknown - benign g.74135898A>G g.73908771A>G - - ACTG2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398T>C r.(?) p.(Met133Thr) Unknown - likely benign g.74136213T>C g.73909086T>C T398C - ACTG2_000025 - PubMed: Wangler 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control - PubMed: Wangler 2014 from local WES database - - United States - - - - - 1 Johan den Dunnen
?/. - c.398T>C r.(?) p.(Met133Thr) Unknown - VUS g.74136213T>C - ACTG2(NM_001615.4):c.398T>C (p.(Met133Thr)) - ACTG2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.400T>A r.(?) p.(Tyr134Asn) Unknown - pathogenic (dominant) g.74136215T>A g.73909088T>A 412T>A (Y134N) - ACTG2_000031 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam16-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.439G>T r.(?) p.(Gly147Cys) Unknown - pathogenic (dominant) g.74136254G>T g.73909127G>T - - ACTG2_000032 - PubMed: Collins 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Pat1 PubMed: Collins 2019 2-generation family, 1 affected M - United States - - - - - 1 Johan den Dunnen
+/. - c.442C>A r.(?) p.(Arg148Ser) Unknown - pathogenic (dominant) g.74136257C>A g.73909130C>A - - ACTG2_000033 - PubMed: Lehtonen 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES VSCM - PubMed: Lehtonen 2012 5-generation family, 7 affected (3F, 4M) F;M - Finland - - - - - 1 Johan den Dunnen
+/. - c.442C>A r.(?) p.(Arg148Ser) Unknown - pathogenic (dominant) g.74136257C>A g.73909130C>A - - ACTG2_000033 - PubMed: Holla 2014 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES VSCM - PubMed: Holla 2014 2-generation family, 1 affected, father not available F - Norway - - - - - 1 Johan den Dunnen
+/. - c.442C>A r.(?) p.(Arg148Ser) Unknown - pathogenic (dominant) g.74136257C>A g.73909130C>A - - ACTG2_000033 - PubMed: Matera 2016 ClinVar-000256216 - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S83 PubMed: Matera 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.443G>T r.(?) p.(Arg148Leu) Parent #1 - pathogenic (dominant) g.74136258G>T g.73909131G>T - - ACTG2_000034 - PubMed: Ravenscroft 2018 - - Germline yes - - - - DNA SEQ - - VSCM Fam1 PubMed: Ravenscroft 2018 3-generation family, 4 affected (4M) M - Australia - - - - - 1 Johan den Dunnen
+/. - c.532C>A r.(?) p.(Arg178Ser) Unknown - pathogenic (dominant) g.74140692C>A g.73913565C>A - - ACTG2_000016 - PubMed: Korgali 2018 - - De novo - - - - - DNA SEQ - - VSCM - PubMed: Korgali 2018 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic g.74140692C>T g.73913565C>T ACTG2(NM_001615.3):c.532C>T (p.R178C) - ACTG2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Thorson 2014 - - De novo - - - - - DNA SEQ - - VSCM family 2 PubMed: Thorson 2014 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam29-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Matera 2016 ClinVar-000256212 - De novo - - - - - DNA SEQ - - VSCM S16 PubMed: Matera 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Halim 2016 - - De novo - - - - - DNA SEQ - - VSCM S3 PubMed: Halim 2016 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Halim 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S7 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Halim 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S8 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Moreno 2016 - - De novo - - - - - DNA SEQ - - VSCM Family 2 PubMed: Moreno 2016 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Arg178Cys) Unknown - pathogenic (dominant) g.74140692C>T g.73913565C>T - - ACTG2_000010 - PubMed: Moreno 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Family 6 PubMed: Moreno 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.533G>A r.(?) p.(Arg178His) Maternal (confirmed) - pathogenic (dominant) g.74140693G>A g.73913566G>A - - ACTG2_000036 - PubMed: Wangler 2014 - - Germline yes - - - - DNA SEQ - - VSCM Fam11-1 PubMed: Wangler 2014 - - - - - - - - - 1 Johan den Dunnen
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic (dominant) g.74140693G>A g.73913566G>A - - ACTG2_000036 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam35-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic (dominant) g.74140693G>A g.73913566G>A - - ACTG2_000036 - PubMed: Tuzovic 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES VSCM Family 2 PubMed: Tuzovic 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic (dominant) g.74140693G>A g.73913566G>A - - ACTG2_000036 - PubMed: Matera 2016 ClinVar-000256210 - De novo - - - - - DNA SEQ - - VSCM S10 PubMed: Matera 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic (dominant) g.74140693G>A g.73913566G>A - - ACTG2_000036 - PubMed: Halim 2016 - - De novo - - - - - DNA SEQ - - VSCM S2 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic (dominant) g.74140693G>A g.73913566G>A - - ACTG2_000036 - PubMed: Halim 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S4 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic g.74140693G>A - ACTG2(NM_001615.4):c.533G>A (p.(Arg178His)) - ACTG2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic g.74140693G>A - ACTG2(NM_001615.4):c.533G>A (p.(Arg178His)) - ACTG2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533G>T r.(?) p.(Arg178Leu) Unknown - pathogenic (dominant) g.74140693G>T g.73913566G>T - - ACTG2_000035 - PubMed: Thorson 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - WES VSCM family 1 PubMed: Thorson 2014 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.533G>T r.(?) p.(Arg178Leu) Unknown - pathogenic (dominant) g.74140693G>T g.73913566G>T - - ACTG2_000035 - PubMed: Matera 2016 ClinVar-000256211 - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S13 PubMed: Matera 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.533G>T r.(?) p.(Arg178Leu) Unknown - pathogenic (dominant) g.74140693G>T g.73913566G>T - - ACTG2_000035 - PubMed: Halim 2016 - - De novo - - - - - DNA SEQ - - VSCM S5 PubMed: Halim 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.533G>T r.(?) p.(Arg178Leu) Unknown - pathogenic (dominant) g.74140693G>T g.73913566G>T - - ACTG2_000035 - PubMed: Moreno 2016 - - De novo - - - - - DNA SEQ - - VSCM Family 4 PubMed: Moreno 2016 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+?/. - c.577A>T r.(?) p.(Ile193Phe) Unknown - likely pathogenic g.74140737A>T g.73913610A>T ACTG2(NM_001615.4):c.577A>T (p.I193F) - ACTG2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.584C>T r.(?) p.(Thr195Ile) Unknown - pathogenic (dominant) g.74140744C>T g.73913617C>T - - ACTG2_000037 - PubMed: Moreno 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Family 5 PubMed: Moreno 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Gly198Asp) Unknown - pathogenic (dominant) g.74140753G>A g.73913626G>A - - ACTG2_000038 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam28-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.606G>A r.(?) p.(Val202=) Unknown - likely benign g.74140766G>A g.73913639G>A ACTG2(NM_001615.3):c.606G>A (p.V202=) - ACTG2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.613+16T>C r.(=) p.(=) Unknown - benign g.74140789T>C g.73913662T>C - - ACTG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.632G>A r.(?) p.(Arg211Gln) Unknown - pathogenic (dominant) g.74141825G>A g.73914698G>A - - ACTG2_000015 - PubMed: Whittington 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Fam-mother PubMed: Whittington 2017 2-generation family, affected mother/son F - United States - - - - - 1 Johan den Dunnen
+/. - c.632G>A r.(?) p.(Arg211Gln) Parent #1 - pathogenic (dominant) g.74141825G>A g.73914698G>A - - ACTG2_000015 - PubMed: Whittington 2017 - - Germline yes - - - - DNA SEQ - - VSCM Fam-son PubMed: Whittington 2017 son M - United States - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic g.74141962C>T g.73914835C>T ACTG2(NM_001615.3):c.769C>T (p.R257C) - ACTG2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam4-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam25-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Wangler 2014 - - De novo - - - - - DNA SEQ - - VSCM Fam30-1 PubMed: Wangler 2014 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Maternal (confirmed) - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Wangler 2014 - - Germline yes - - - - DNA SEQ - - VSCM Fam13-1 PubMed: Wangler 2014 2-generation family, 1 affected, carrier mother F - - - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Tuzovic 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES VSCM Family 3 PubMed: Tuzovic 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Matera 2016 ClinVar-000256214 - De novo - - - - - DNA SEQ - - VSCM S11 PubMed: Matera 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Matera 2016 ClinVar-000256214 - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S12 PubMed: Matera 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Matera 2016 ClinVar-000256214 - De novo - - - - - DNA SEQ - - VSCM S14 PubMed: Matera 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Lu 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Patient 4 PubMed: Lu 2016 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Parent #1 - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Milunsky 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES VSCM FamCase1 PubMed: Milunsky 2017 2-generation family, 2 affected F - United States - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Milunsky 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES VSCM Case 3 PubMed: Milunsky 2017 2-generation family, 1 affected F - United States - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Milunsky 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES VSCM Case 4 PubMed: Milunsky 2017 2-generation family, 1 affected M - United States - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Ravenscroft 2018 - - De novo - - - - - DNA SEQ - - VSCM Pat3 PubMed: Ravenscroft 2018 2-generation family, 1 affected F - Australia - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Ravenscroft 2018 - - De novo - - - - - DNA SEQ - - VSCM Pat4 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Ravenscroft 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Pat5 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic (dominant) g.74141962C>T g.73914835C>T - - ACTG2_000012 - PubMed: Ravenscroft 2018 - - De novo - - - - - DNA SEQ - - VSCM Pat6 PubMed: Ravenscroft 2018 2-generation family, 1 affected M - Australia - - - - - 1 Johan den Dunnen
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown ACMG pathogenic g.74141962C>T g.73914835C>T - - ACTG2_000012 ACMG grading: PS2,PS4,PM2,PP1,PP3; viszerale Myopathy; Wangler et al. 2014. PLoS genetics 3: 1004258; Yang et al. 2013. NEJM 16: 1502; Tuzovic et al. 2015. Fetal diagnosis and therapy 4: 296 - - rs587777387 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.769C>T r.(?) p.(Arg257Cys) Unknown - pathogenic g.74141962C>T - ACTG2(NM_001615.3):c.769C>T (p.R257C) - ACTG2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.770G>A r.(?) p.(Arg257His) Unknown - pathogenic (dominant) g.74141963G>A g.73914836G>A - - ACTG2_000039 - PubMed: Tuzovic 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES VSCM Family 1 PubMed: Tuzovic 2015 2-generation family, 2 affected (F, M), unaffected non-carrier parents F;M - United States - - - - - 1 Johan den Dunnen
+/. - c.770G>A r.(?) p.(Arg257His) Unknown - pathogenic (dominant) g.74141963G>A g.73914836G>A - - ACTG2_000039 - PubMed: Matera 2016 ClinVar-000256213 - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM S8 PubMed: Matera 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.770G>A r.(?) p.(Arg257His) Unknown - pathogenic (dominant) g.74141963G>A g.73914836G>A - - ACTG2_000039 - PubMed: Matera 2016 ClinVar-000256213 - De novo - - - - - DNA SEQ - - VSCM S9 PubMed: Matera 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.770G>A r.(?) p.(Arg257His) Unknown - pathogenic (dominant) g.74141963G>A g.73914836G>A - - ACTG2_000039 - PubMed: Moreno 2016 - - De novo - - - - - DNA SEQ - - VSCM Family 3 PubMed: Moreno 2016 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.770G>A r.(?) p.(Arg257His) Unknown - pathogenic (dominant) g.74141963G>A g.73914836G>A - - ACTG2_000039 - PubMed: Lu 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Patient 1 PubMed: Lu 2016 2-generation family, 1 affected F - China - - - - - 1 Johan den Dunnen
+/. - c.770G>A r.(?) p.(Arg257His) Unknown - pathogenic (dominant) g.74141963G>A g.73914836G>A - - ACTG2_000039 - PubMed: Lu 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Patient 2 PubMed: Lu 2016 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
+/. - c.770G>A r.(?) p.(Arg257His) Unknown - pathogenic (dominant) g.74141963G>A g.73914836G>A - - ACTG2_000039 - PubMed: Lu 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - VSCM Patient 3 PubMed: Lu 2016 2-generation family, 1 affected F - China - - - - - 1 Johan den Dunnen
-?/. - c.789C>G r.(?) p.(Phe263Leu) Parent #1 - likely benign g.74141982C>G g.73914855C>G c789G - ACTG2_000020 - PubMed: Lehtonen 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control - PubMed: Wangler 2014 from local WES database - - United States - - - - - 2 Johan den Dunnen
?/. - c.805+166del r.(=) p.(=) Both (homozygous) - VUS g.74142164del g.73915037del - - ACTG2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.805+166del r.(=) p.(=) Both (homozygous) - VUS g.74142164del g.73915037del - - ACTG2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.806_807delinsAA r.(?) p.(Gly269Glu) Parent #1 - pathogenic (dominant) g.74143711_74143712delinsAA g.73916584_73916585delinsAA - - ACTG2_000040 - PubMed: Klar 2015 - - Germline yes - - - - DNA SEQ - - VSCM - PubMed: Klar 2015 1-generation family, 11 affected (5F, 6M) F;M - Sweden - - - - - 1 Johan den Dunnen
?/. - c.865G>T r.(?) p.(Asp289Tyr) Unknown - VUS g.74143770G>T - - - ACTG2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.958G>A r.(?) p.(Ala320Thr) Unknown - VUS g.74143863G>A - ACTG2(NM_001615.3):c.958G>A (p.A320T) - ACTG2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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