Full data view for gene ACTA1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001100.3 transcript reference sequence.

485 entries on 5 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.-66C>T r.(=) p.(=) Parent #1 - benign g.229569804G>A g.229434057G>A - - ACTA1_000271 - - - rs78588865 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-66C>T r.(?) p.(=) Unknown - benign g.229569804G>A g.229434057G>A - - ACTA1_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1 c.-66_-65delinsTC r.(?) p.(=) Unknown - benign g.229569803_229569804delinsGA g.229434056_229434057delinsGA - - ACTA1_000200 rs605428; rs605430 - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Kristen Nowak
-/. - c.-65T>C r.(=) p.(=) Parent #1 - benign g.229569803A>G g.229434056A>G - - ACTA1_000270 - - - rs605430 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-65T>C r.(?) p.(=) Unknown - benign g.229569803A>G g.229434056A>G - - ACTA1_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12-61del r.(=) p.(=) Parent #1 - VUS g.229568942del g.229433195del - - ACTA1_000279 - - - rs6667660 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ _1_7_ c.(?_-12)_(*254_?)del r.0? p.0? Paternal (confirmed) - pathogenic g.(?_229566992)_(229568874_?)del - - - ACTA1_000258 Deletion including at least exons 2 to 7 (all the coding exons) of ACTA1 PubMed: Friedman et al 2014 - - Germline - - - - - DNA PCRq - - NEM - PubMed: Friedman et al 2014 - F no (United States) - - - - - 1 Kristen Nowak
-/- 3i c.454+30_454+59CCCGCC[3_5] r.(=) p.(=) Unknown - benign g.229568244_229568273CCCGCC[3_5] g.229432497_229432526[3_5] - - ACTA1_000152 known polymorphism PubMed: Nowak et al, 1999, PubMed: Graziano et al, 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Nowak et al, 1999, PubMed: Graziano et al, 2004 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.7G>T r.(?) p.(Asp3Tyr) Parent #1 - pathogenic g.229568856C>A g.229433109C>A D1Y - ACTA1_000001 - PubMed: Kaindl et al, 2004, OMIM:var0009 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Kaindl et al, 2004, OMIM:var0009 11 affected members in 4 generations from 8 separate sibship - - Germany - - - - - 11 Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO4A;CFTD - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - ? - PubMed: Laing et al, 2009 muscle biopsy type 1 fibre predominance is only pathological feature - - - - - - - - 1 Kristen Nowak
+/? 2 c.16G>A r.(?) p.(Glu6Lys) Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - - - - Germline - - - - - DNA PCR, SEQ - - CMYO2A;NEM3 - - - F - United States white - - - - 1 Tom Winder
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - - - - De novo - - - - - DNA ? - - MYOP - - Patient of Anna Sarkozy, London. Patient described as having congenital myopathy with no nemaline rods seen ? - United Kingdom (Great Britain) - - - - - 1 Kristen Nowak
?/? 2 c.24C>A r.(?) p.(=) Unknown - VUS g.229568839G>T g.229433092G>T - - ACTA1_000235 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
+/+ 2 c.37G>A r.(?) p.(Asp13Asn) Unknown - pathogenic g.229568826C>T g.229433079C>T - - ACTA1_000160 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.44G>A r.(?) p.(Gly15Asp) Unknown - pathogenic g.229568819C>T g.229433072C>T - - ACTA1_000225 - PubMed: Stenzel et al 2010 - - De novo - - - - - DNA SEQ - - MYOP - PubMed: Stenzel et al 2010 - F - - - - - - - 1 Kristen Nowak
+/. - c.44G>A r.(?) p.(Gly15Asp) Unknown - pathogenic g.229568819C>T g.229433072C>T - - ACTA1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) Parent #1 - pathogenic g.229568814C>G g.229433067C>G G15R - ACTA1_000003 - PubMed: Nowak et al, 1999, OMIM:var0003 - - De novo - - - - - DNA SEQ - - MYOP - PubMed: Goebel et al, 1997; H. Goebel, Germany; J. Anderson (England) - - - (Germany) - - - - - 1 Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) Unknown - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Goebel et al, 2006, PubMed: Goebel et al, 2004 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Goebel et al, 2006, PubMed: Goebel et al, 2004 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) Unknown - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) Unknown - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.60A>C r.(?) p.(Lys20Asn) Unknown - pathogenic g.229568803T>G g.229433056T>G - - ACTA1_000295 - - - - De novo - - - - - DNA SEQ-NG-I - gene panel of 316 known muscle disease genes CMYO2A;NEM3 - - - M ? Australia - - - - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Sparrow et al, 2003 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003 - - - (France) - - - - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (Japan) - - - - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (Japan) - - - - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+?/? 2 c.83C>A r.(?) p.(Ala28Asp) Unknown - likely pathogenic g.229568780G>T g.229433033G>T - - ACTA1_000266 Not present in ExAC (15.8.15) but p.(Ala28Gly) and p.(Ala28Ser) are both present at 1:119,000 alleles. Other members of family not yet analysed. - - - Unknown - - - - - DNA SEQ - - MYOP - - - - ? (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+?/+? 2 c.89G>A r.(?) p.(Arg30Lys) Paternal (confirmed) - likely pathogenic g.229568774C>T g.229433027C>T - - ACTA1_000005 ?unaffected father carries the same mutation PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - - - - 1 Alan Beggs
+/+ 2 c.109G>C r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (Germany) - - - - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (Belgium) - - - - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (Finland) - - - - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.109G>T r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>A g.229433007C>A - - ACTA1_000202 Same amino acid change p.Val37Leu as previous 7 mutations but different DNA change GTG>TTG rather than GTG>CTG PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+/+ 2 c.109G>T r.(?) p.(Val37Leu) Unknown - pathogenic g.229568754C>A g.229433007C>A - - ACTA1_000202 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - M - Australia - - - - - 1 Kristen Nowak
+/+ 2 c.110T>C r.(?) p.(Val37Ala) Unknown - pathogenic g.229568753A>G g.229433006A>G - - ACTA1_000161 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.112G>A r.(?) p.(Gly38Ser) Unknown - pathogenic g.229568751C>T g.229433004C>T - - ACTA1_000246 - - - - De novo - - - - - DNA SEQ - - NEM - - - F - (Australia) - - - - - 1 Kristen Nowak
+/+ 2 c.113G>C r.(?) p.(Gly38Ala) Parent #1 - pathogenic g.229568750C>G g.229433003C>G - - ACTA1_000007 parents not tested PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (Netherlands) - - - - - 1 Kristen Nowak
?/. - c.113G>C r.(?) p.(Gly38Ala) Unknown - VUS g.229568750C>G g.229433003C>G - - ACTA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.115C>G r.(?) p.(Arg39Gly) Unknown - likely pathogenic g.229568748G>C - - - ACTA1_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) Unknown - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - - - - 1 Alan Beggs
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) Parent #1 - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) Unknown - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 2 c.121C>T r.(?) p.(Arg41*) Both (homozygous) - pathogenic g.229568742G>A g.229432995G>A - - ACTA1_000009 both unaffected parents heterozygous PubMed: Nowak et al, 2007, PubMed: Sparrow et al, 2003 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Nowak et al, 2007, PubMed: Sparrow et al, 2003 - - - (France) - - - - - 1 Kristen Nowak
+?/+? 2 c.122G>A r.(?) p.(Arg41Gln) Unknown - likely pathogenic g.229568741C>T g.229432994C>T - - ACTA1_000229 - - - - De novo - - - - - DNA PCR, SEQ - - NEM - - - F - United States - - - - - 1 Tom Winder
+?/. - c.122G>T r.(?) p.(Arg41Leu) Unknown - likely pathogenic g.229568741C>A - - - ACTA1_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.124C>T r.(?) p.(His42Tyr) Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - - (United States) - - - - - 1 Alan Beggs
+/+ 2 c.124C>T r.(?) p.(His42Tyr) Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Sparrow et al, 2003 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003 - - - (Finland) - - - - - 1 Kristen Nowak
+/+ 2 c.124C>T r.(?) p.(His42Tyr) Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - F - (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+/+ 2 c.124C>T r.(?) p.(His42Tyr) Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Laing et al, 2009 - M - (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) Unknown - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Graziano et al, 2004 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Graziano et al, 2004 monozygotic twins - - (Italy) - - - - - 1 Kristen Nowak
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) Parent #1 - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 parents not tested - - (United States) - - - - - 2 Alan Beggs
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) Unknown - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
-?/. - c.129+16C>T r.(=) p.(=) Unknown - likely benign g.229568718G>A - ACTA1(NM_001100.3):c.129+16C>T (p.(=)) - ACTA1_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2i c.129+31C>A r.(?) p.(=) Unknown - benign g.229568703G>T g.229432956G>T - - ACTA1_000236 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.130-10G>C r.(=) p.(=) Parent #1 - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 - - - rs4127148 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 2i c.130-10G>C r.(?) p.(?) Unknown - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 - PubMed: Graziano et al, 2004 - rs41271481 Germline - - - - - DNA SEQ - - - - PubMed: Graziano et al, 2004 - - - - - - - - - 1 Kristen Nowak
-/? 2i c.130-10G>C r.(?) p.(=) Unknown - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 from website {DBsub-Emory} - - rs41271481 Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.130-10G>C r.(=) p.(=) Unknown - benign g.229568637C>G g.229432890C>G ACTA1(NM_001100.3):c.130-10G>C - ACTA1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130-10G>C r.(=) p.(=) Unknown - benign g.229568637C>G g.229432890C>G ACTA1(NM_001100.3):c.130-10G>C - ACTA1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.130-5T>A r.spl p.? Unknown ACMG VUS g.229568632A>T g.229432885A>T - - ACTA1_000331 ACMG PM2 PP2 PP3 PP4 PubMed: Gurgel-Giannetti 2022 - - De novo - - - - - DNA SEQ - - NEM Fam2Pat2 PubMed: Gurgel-Giannetti 2022 - M - Brazil - - - - - 1 Johan den Dunnen
-/. - c.130-5T>C r.spl? p.(=) Parent #1 - benign g.229568632A>G g.229432885A>G - - ACTA1_000151 - - - rs11803533 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 2i c.130-5T>C r.(?) p.(?) Unknown - benign g.229568632A>G g.229432885A>G - - ACTA1_000151 - PubMed: Graziano et al, 2004 - rs11803533 Germline - - - - - DNA SEQ - - - - PubMed: Graziano et al, 2004 - - - - - - - - - 1 Kristen Nowak
-/? 2i c.130-5T>C r.(spl?) p.(=) Unknown ACMG benign g.229568632A>G g.229432885A>G - - ACTA1_000151 from website {DBsub-Emory} - - rs11803533 Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.130-5T>C r.spl? p.? Unknown - benign g.229568632A>G g.229432885A>G ACTA1(NM_001100.3):c.130-5T>C - ACTA1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130-5T>C r.spl? p.? Unknown - benign g.229568632A>G g.229432885A>G ACTA1(NM_001100.3):c.130-5T>C - ACTA1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.131G>T r.(?) p.(Gly44Val) Parent #1 - pathogenic g.229568626C>A g.229432879C>A - - ACTA1_000012 - PubMed: Sparrow et al, 2003 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003 - - - (Belgium) - - - - - 1 Kristen Nowak
+/+ 3 c.133G>T r.(?) p.(Val45Phe) Unknown - pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 - PubMed: Sparrow et al, 2003 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003 - - - (Denmark) - - - - - 1 Kristen Nowak
+?/+? 3 c.133G>T r.(?) p.(Val45Phe) Unknown - likely pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.133G>T r.(?) p.(Val45Phe) Unknown - pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136A>G r.(?) p.(Met46Val) Unknown - VUS g.229568621T>C - - - ACTA1_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.137T>C r.(?) p.(Met46Thr) Unknown - pathogenic g.229568620A>G g.229432873A>G - - ACTA1_000014 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (France) - - - - - 1 Kristen Nowak
?/+? 3 c.142G>A r.(?) p.(Gly48Ser) Unknown - VUS g.229568615C>T g.229432868C>T - - ACTA1_000221 - - - - Germline - - - - - DNA SEQ - - CMYO4A;CFTD - - - - - United States - - - - - 1 Tom Winder
+/+ 3 c.142G>C r.(?) p.(Gly48Arg) Unknown - pathogenic g.229568615C>G g.229432868C>G - - ACTA1_000239 - - - - De novo - - - - - DNA SEQ - - NEM - - - F no Germany - - - - - 1 Wolfram Kress
+/+ 3 c.142G>T r.(?) p.(Gly48Cys) Unknown - pathogenic g.229568615C>A g.229432868C>A - - ACTA1_000162 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) Unknown - pathogenic g.229568614C>T g.229432867C>T - - ACTA1_000015 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO4A;CFTD - PubMed: Laing et al, 2009 - - - (Australia) - - - - - 1 Kristen Nowak
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) Unknown - pathogenic g.229568614C>T g.229432867C>T - - ACTA1_000015 - PubMed: Stehlikova et al, 2017 - - De novo - - - - - DNA SEQ-NG-I - Targeted panel of 42 known disease genes MYOP Stehlikova et al, 2017 PubMed: Stehlikova et al, 2017 Patient described as having a congenital myopathy and a de novo mutation in ACTA1 F - Czech Republic - - - - - 1 Kristen Nowak
+/+? 3 c.143G>C r.(?) p.(Gly48Ala) Unknown - likely pathogenic g.229568614C>G g.229432867C>G - - ACTA1_000308 - PubMed: Tadokoro et al 2018 - - De novo - - - - - DNA SEQ - - CMYO4A;CFTD - {PMID30195123: Tadokoro et al 2018} Patient diagnosed with congenital fibre type disproportion (CFTD), and dilated cardiomyopathy, no nemaline bodies seen, first seen at age 6. M ? Japan - - - - - 1 Kristen Nowak
+/+ 3 c.145A>G r.(?) p.(Met49Val) Unknown - pathogenic g.229568612T>C g.229432865T>C - - ACTA1_000190 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/? 3 c.145A>G r.(?) p.(Met49Val) Unknown - pathogenic g.229568612T>C g.229432865T>C - - ACTA1_000190 original report erroneous, change confirmed by authors; TPM2:c.=; de novo, in patient PubMed: Hung 2010 - - De novo - - - - - DNA SEQ - - MYOP - PubMed: Hung 2010 father Trinidad, mother United Kingdom (Scotland) M - Canada - - - - - 1 Johan den Dunnen
+/+ 3 c.148G>A r.(?) p.(Gly50Ser) Paternal (inferred) - pathogenic g.229568609C>T - - - ACTA1_000323 - PubMed: Garibaldi 2021 - - Germline yes - - - - DNA SEQ-NG - targeted congenital myopathy panel 95 genes CMYO2A;NEM3 - PubMed: Garibaldi 2021 3 generation family, 6 affecteds (3F, 3M), dominantly inherited. Nemaline bodies, unstructured cores. Proband female F - Italy - - - - - 6 Nigel Laing
+/+? 3 c.148G>T r.(?) p.(Gly50Cys) Unknown - pathogenic g.229568609C>A g.229432862C>A Not published - ACTA1_000260 Variant described in email from Dr Hayashi 8.10.13 - - - Germline - - - - - DNA PCR - - NEM - - Hayashi et al, Mutation screening of a large cohort of nemaline myopathy. Neuromuscular Disorders 23: 784 (2013) - - - - - - - - 1 Kristen Nowak
+/+ 3 c.149G>A r.(?) p.(Gly50Asp) Paternal (confirmed) - pathogenic g.229568608C>T - - - ACTA1_000322 - PubMed: Liewluck 2019 - - Germline yes - - - - DNA SEQ-NG - - CMYO2A;NEM3 Liewluck 2019 Proband and father PubMed: Liewluck 2019 2 generation family, 2 affecteds (1M, 1F). myopathy with prominent finger flexor weakness, rimmed vacuoles and nemaline bodies in father F - (United States) - - - - - 2 Nigel Laing
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) Unknown - pathogenic g.229568588C>G g.229432841C>G - - ACTA1_000016 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - (Finland) - - - - - 1 Kristen Nowak
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) Unknown - pathogenic g.229568588C>G g.229432841C>G - - ACTA1_000016 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+?/+? 3 c.172G>A r.(?) p.(Asp58Asn) Unknown - likely pathogenic g.229568585C>T g.229432838C>T - - ACTA1_000227 - - - - Germline - - - - - DNA PCR, SEQ - - MYOP - - - M - United States white - - - - 1 Tom Winder
+?/+? 3 c.175G>A r.(?) p.Glu59Lys Unknown - likely pathogenic g.229568582C>T g.229432835C>T - - ACTA1_000261 Email from Francesco Muntoni 8.7.13 - - - De novo - - - - - DNA PCR - - NEM - - - - - (United Kingdom (Great Britain)) - - - - - 1 Kristen Nowak
+/+ 3 c.197T>A r.(?) p.(Ile66Asn) Unknown - pathogenic g.229568560A>T g.229432813A>T - - ACTA1_000212 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - - - - 2 Alan Beggs
+/+ 3 c.197T>G r.(?) p.(Ile66Ser) Unknown - pathogenic g.229568560A>C g.229432813A>C - - ACTA1_000163 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 3 c.203C>A r.(?) p.(Thr68Asn) Unknown - pathogenic g.229568554G>T g.229432807G>T - - ACTA1_000208 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 3 c.203C>T r.(?) p.(Thr68Ile) Unknown - pathogenic g.229568554G>A g.229432807G>A - - ACTA1_000018 - PubMed: Ilkovski et al, 2004 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Ilkovski et al, 2004 - - - (Australia) - - - - - 1 Kristen Nowak
+/+? 3 c.203C>T r.(?) p.(Thr68Ile) Unknown - pathogenic g.229568554G>A g.229432807G>A - - ACTA1_000018 - - - - Unknown - - - - - DNA PCR, SEQ - - NEM - - - - - United States African American - - - - 1 Tom Winder
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) Unknown - pathogenic g.229568548T>C g.229432801T>C - - ACTA1_000186 - PubMed: Laing et al, 2009 - - De novo - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) Unknown - pathogenic g.229568548T>C g.229432801T>C - - ACTA1_000186 - PubMed: Laing et al, 2009 - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - PubMed: Laing et al, 2009 - - - - - - - - - 1 Kristen Nowak
?/? 3 c.210G>A r.210g>a p.= Parent #1 - VUS g.229568547C>T g.229432800C>T - - ACTA1_000144 RNA muscle normal; pathogenicity unclear; PubMed: Graziano et al, 2004 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - CMYO2A;NEM3 - PubMed: Graziano et al, 2004 - - - (Italy) - - - - - 1 Kristen Nowak
+?/+? 3 c.215C>G r.(?) p.(Pro72Arg) Unknown - likely pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - unpublished - - Germline - - - - - DNA SEQ - - CMYO2A;NEM3 - unpublished - - - - - - - - - 1 Kristen Nowak
+/+ 3 c.215C>G r.(?) p.(Pro72Arg) Unknown - pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - - - - De novo - - - - - DNA PCR, SEQ - - NEM - - - F - United States white - - - - 1 Tom Winder
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