Full data view for gene ACTC1

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_005159.4 transcript reference sequence.

253 entries on 3 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.-23+15G>T r.(=) p.(=) Unknown - likely benign g.35087692C>A - ACTC1(NM_005159.4):c.-23+15G>T - ACTC1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12A>G r.(?) p.(=) Unknown - VUS g.35087021T>C - ACTC1(NM_005159.5):c.-12A>G - ACTC1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7G>C r.(?) p.(Asp3His) Unknown - VUS g.35087003C>G g.34794802C>G - - ACTC1_000175 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/748 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.10G>A r.(?) p.(Asp4Asn) Unknown - VUS g.35087000C>T g.34794799C>T ACTC1(NM_005159.4):c.10G>A (p.D4N) - ACTC1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28C>A r.(?) p.(Leu10Met) Unknown - VUS g.35086982G>T g.34794781G>T - - ACTC1_000174 - PubMed: Walsh 2017 - - Germline - 2/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 2 Johan den Dunnen
?/. - c.31G>A r.(?) p.(Val11Met) Unknown - VUS g.35086979C>T g.34794778C>T ACTC1(NM_005159.4):c.31G>A (p.V11M) - ACTC1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66C>T r.(?) p.(Gly22=) Unknown - likely benign g.35086944G>A g.34794743G>A - - ACTC1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76G>A r.(?) p.(Asp26Asn) Unknown - VUS g.35086934C>T g.34794733C>T - - ACTC1_000173 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.76G>A r.(?) p.(Asp26Asn) Unknown - VUS g.35086934C>T g.34794733C>T - - ACTC1_000173 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.76G>A r.(?) p.(Asp26Asn) Unknown - likely pathogenic g.35086934C>T - ACTC1(NM_005159.4):c.76G>A (p.D26N) - ACTC1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83C>T r.(?) p.(Ala28Val) Unknown - VUS g.35086927G>A g.34794726G>A - - ACTC1_000172 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.100C>T r.(?) p.(Pro34Ser) Unknown - VUS g.35086910G>A - - - ACTC1_000203 - - - rs1451590510 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101C>T r.(?) p.(Pro34Leu) Unknown - VUS g.35086909G>A g.34794708G>A - - ACTC1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.107_120delinsC r.(?) p.(Ile36ThrfsTer17) Unknown - likely pathogenic g.35086890_35086903delinsG g.34794689_34794702delinsG - - ACTC1_000181 secondary finding - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-80 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.110T>C r.(?) p.(Val37Ala) Unknown - VUS g.35086900A>G g.34794699A>G - - ACTC1_000171 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.124C>T r.(?) p.(His42Tyr) Unknown - VUS g.35086886G>A g.34794685G>A - - ACTC1_000170 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.129G>A r.(?) p.(Gln43=) Unknown - VUS g.35086881C>T g.34794680C>T ACTC1(NM_005159.4):c.129G>A (p.Q43=) - ACTC1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129+6C>G r.(=) p.(=) Unknown - benign g.35086875G>C g.34794674G>C ACTC1(NM_005159.5):c.129+6C>G - ACTC1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129+16_129+17insC r.(=) p.(=) Unknown - likely benign g.35086864_35086865insG g.34794663_34794664insG ACTC1(NM_005159.5):c.129+16_129+17insC - ACTC1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129+19_129+20insT r.(=) p.(=) Unknown - likely benign g.35086861_35086862insA g.34794660_34794661insA ACTC1(NM_005159.4):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19delCinsCT - ACTC1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129+19_129+20insT r.(=) p.(=) Unknown - benign g.35086861_35086862insA g.34794660_34794661insA ACTC1(NM_005159.4):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19delCinsCT - ACTC1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129+19_129+20insT r.(=) p.(=) Unknown - benign g.35086861_35086862insA g.34794660_34794661insA ACTC1(NM_005159.4):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19_129+20insT, ACTC1(NM_005159.5):c.129+19delCinsCT - ACTC1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129+23dup r.(=) p.(=) Unknown - likely benign g.35086863dup g.34794662dup ACTC1(NM_005159.4):c.129+23dupC, ACTC1(NM_005159.5):c.129+17delGinsGC - ACTC1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129+23dup r.(=) p.(=) Unknown - benign g.35086863dup g.34794662dup ACTC1(NM_005159.4):c.129+23dupC, ACTC1(NM_005159.5):c.129+17delGinsGC - ACTC1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129+23dup r.(=) p.(=) Unknown - benign g.35086863dup g.34794662dup ACTC1(NM_005159.4):c.129+23dupC, ACTC1(NM_005159.5):c.129+17delGinsGC - ACTC1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129+32C>A r.(=) p.(=) Unknown - likely benign g.35086849G>T g.34794648G>T - - ACTC1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130-18C>A r.(=) p.(=) Unknown - benign g.35085788G>T g.34793587G>T ACTC1(NM_005159.5):c.130-18C>A - ACTC1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165C>T r.(?) p.(Tyr55=) Unknown - benign g.35085735G>A g.34793534G>A ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=) - ACTC1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Tyr55=) Unknown - likely benign g.35085735G>A g.34793534G>A ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=) - ACTC1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Tyr55=) Unknown - likely benign g.35085735G>A g.34793534G>A ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=) - ACTC1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Tyr55=) Unknown - likely benign g.35085735G>A g.34793534G>A ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=) - ACTC1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>T r.(?) p.(Tyr55=) Unknown - likely benign g.35085735G>A - ACTC1(NM_005159.4):c.165C>T (p.Y55=), ACTC1(NM_005159.5):c.165C>T (p.Y55=) - ACTC1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204C>T r.(?) p.(Thr68=) Unknown - likely benign g.35085696G>A g.34793495G>A ACTC1(NM_005159.4):c.204C>T (p.T68=) - ACTC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.215_231del r.(?) p.(Pro72Hisfs*18) Parent #1 - pathogenic g.35085674_35085690del g.34793473_34793489del - - ACTC1_000016 not in 580 control chromosomes PubMed: Matsson 2008, OMIM:var0006 - - Germline - - - - - DNA SEQ - - ASD5 - - - - - Sweden - - - - - 2 Johan den Dunnen
-?/. - c.219C>T r.(?) p.(Ile73=) Unknown - likely benign g.35085681G>A g.34793480G>A ACTC1(NM_005159.4):c.219C>T (p.I73=), ACTC1(NM_005159.5):c.219C>T (p.I73=) - ACTC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.219C>T r.(?) p.(Ile73=) Unknown - benign g.35085681G>A g.34793480G>A ACTC1(NM_005159.4):c.219C>T (p.I73=), ACTC1(NM_005159.5):c.219C>T (p.I73=) - ACTC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229A>G r.(?) p.(Ile77Val) Unknown - VUS g.35085671T>C g.34793470T>C - - ACTC1_000169 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.240C>T r.(?) p.(Asn80=) Unknown - likely benign g.35085660G>A - - - ACTC1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250A>T r.(?) p.(Met84Leu) Unknown - VUS g.35085650T>A - ACTC1(NM_005159.4):c.250A>T (p.M84L), ACTC1(NM_005159.5):c.250A>T (p.M84L) - ACTC1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250A>T r.(?) p.(Met84Leu) Unknown - VUS g.35085650T>A - ACTC1(NM_005159.4):c.250A>T (p.M84L), ACTC1(NM_005159.5):c.250A>T (p.M84L) - ACTC1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250A>T r.(?) p.(Met84Leu) Unknown - VUS g.35085650T>A - ACTC1(NM_005159.4):c.250A>T (p.M84L), ACTC1(NM_005159.5):c.250A>T (p.M84L) - ACTC1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.251T>C r.(?) p.(Met84Thr) Paternal (confirmed) - likely pathogenic g.35085649A>G g.34793448A>G - - ACTC1_000020 - - - - Germline yes - - - - DNA SEQ Blood - CHD - - - M no Lebanon Lebanese 08y - - - 1 Patrice Bouvagnet
+?/. 3 c.251T>C r.(?) p.(Met84Thr) Paternal (confirmed) - likely pathogenic g.35085649A>G g.34793448A>G - - ACTC1_000020 Absent from ESP and ExAC - - - Germline yes - - - - DNA SEQ Blood - CHD - - - M no Lebanon Maronite Lebanese 10y - yes - 1 Patrice Bouvagnet
+/. 3 c.268C>T r.(?) p.(His90Tyr) Parent #1 - pathogenic g.35085632G>A g.34793431G>A - - ACTC1_000013 not in 1000 control chromosomes PubMed: Morita 2008, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CMH11 - - - - - - - - - - - 1 Johan den Dunnen
?/. - c.268C>T r.(?) p.(His90Tyr) Unknown - VUS g.35085632G>A g.34793431G>A - - ACTC1_000013 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.274_279del r.(?) p.(Phe92_Tyr93del) Unknown - VUS g.35085622_35085627del g.34793421_34793426del ACTC1(NM_005159.4):c.274_279delTTCTAC (p.F92_Y93del) - ACTC1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.275_277del r.(?) p.(Phe92del) Parent #1 - likely pathogenic g.35085625_35085627del g.34793424_34793426del 2385_2387delTCT - ACTC1_000018 - PubMed: Kaski 2009 - - Unknown - - - - - DNA SEQ - - CMH - - - - - United Kingdom (Great Britain) - - - - - 1 Peikuan Cong
+/. 3 c.289C>T r.(?) p.(Arg97Cys) Parent #1 - pathogenic g.35085611G>A g.34793410G>A - - ACTC1_000014 not in 1000 control chromosomes PubMed: Morita 2008 - - Germline - - - - - DNA SEQ - - CMH11 - - - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Parent #1 - pathogenic g.35085599C>T g.34793398C>T G>A Glu99Lys - ACTC1_000001 not in 300 control chromosomes PubMed: Olson 2000 - - Germline - - AvaI- - - DNA SSCA, SEQ - - CMH11 - - family 7 affecteds - - United States - - - - - 7 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Parent #1 - pathogenic g.35085599C>T g.34793398C>T G515A (E101K) - ACTC1_000001 founder mutation PubMed: Arad 2005, PubMed: Monserrat 2007 - - Germline - - AvaI- - - DNA PCRdig, SEQ - - CMH11 - PubMed: Monserrat 2007 4-generation family 11 affecteds - - Spain - - - - - 11 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Parent #1 - pathogenic g.35085599C>T g.34793398C>T G515A (E101K) - ACTC1_000001 founder mutation PubMed: Arad 2005, PubMed: Monserrat 2007 - - Germline - - AvaI- - - DNA PCRdig, SEQ - - CMH11 - PubMed: Monserrat 2007 3-generation family 7 affecteds - - Spain - - - - - 7 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Parent #1 - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 founder mutation PubMed: Monserrat 2007 - - Germline - - AvaI- - - DNA PCRdig, SEQ - - CMH11 - PubMed: Monserrat 2007 4-generation family 22 affecteds - - Spain - - - - - 22 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Parent #1 - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 founder mutation PubMed: Monserrat 2007 - - Germline - - AvaI- - - DNA PCRdig, SEQ - - CMH11 - PubMed: Monserrat 2007 3-generation family 3 affecteds - - Spain - - - - - 3 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Parent #1 - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 founder mutation PubMed: Monserrat 2007 - - Germline - - AvaI- - - DNA PCRdig, SEQ - - CMH11 - PubMed: Monserrat 2007 3-generation family 3 affecteds - - Spain - - - - - 3 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Paternal (confirmed) - pathogenic g.35085599C>T g.34793398C>T 478G>A - ACTC1_000001 - PubMed: Klaassen 2008 - - Germline - - - - - DNA DHPLC, SEQ - - LVNC - - - - - - - - - - - 2 Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) Paternal (confirmed) - pathogenic g.35085599C>T g.34793398C>T 478G>A - ACTC1_000001 - PubMed: Klaassen 2008 - - Germline - - - - - DNA DHPLC, SEQ - - LVNC - - - - - - - - - - - 2 Johan den Dunnen
+/. - c.301G>A r.(?) p.(Glu101Lys) Unknown - pathogenic g.35085599C>T g.34793398C>T ACTC1(NM_005159.4):c.301G>A (p.E101K), ACTC1(NM_005159.5):c.301G>A (p.E101K) - ACTC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301G>A r.(?) p.(Glu101Lys) Unknown - pathogenic g.35085599C>T g.34793398C>T ACTC1(NM_005159.4):c.301G>A (p.E101K), ACTC1(NM_005159.5):c.301G>A (p.E101K) - ACTC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301G>A r.(?) p.(Glu101Lys) Unknown - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.301G>A r.(?) p.(Glu101Lys) Unknown - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 - PubMed: Walsh 2017 - - Germline - 4/2650 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 4 Johan den Dunnen
+/. - c.301G>A r.(?) p.(Glu101Lys) Unknown - pathogenic g.35085599C>T - ACTC1(NM_005159.4):c.301G>A (p.E101K), ACTC1(NM_005159.5):c.301G>A (p.E101K) - ACTC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.308A>G r.(?) p.(His103Arg) Unknown - pathogenic g.35085592T>C g.34793391T>C ACTC1(NM_005159.5):c.308A>G (p.H103R) - ACTC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.329C>T r.(?) p.(Ala110Val) Unknown - likely pathogenic g.35085571G>A g.34793370G>A - - ACTC1_000193 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC FamHPat93 PubMed: Miszalski-Jamka 2017 family, 2 affected; case solved - - - - - - - - 2 Johan den Dunnen
+?/. - c.329C>T r.(?) p.(Ala110Val) Unknown - likely pathogenic g.35085571G>A g.34793370G>A - - ACTC1_000193 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC FamHPat176 PubMed: Miszalski-Jamka 2017 relative; case solved - - - - - - - - 1 Johan den Dunnen
-?/. - c.333G>A r.(?) p.(Pro111=) Unknown - likely benign g.35085567C>T - - - ACTC1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.355G>C r.(?) p.(Glu119Gln) Unknown - VUS g.35085545C>G g.34793344C>G - - ACTC1_000168 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/748 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.358A>C r.(?) p.(Lys120Gln) Unknown ACMG likely pathogenic (dominant) g.35085542T>G g.34793341T>G - - ACTC1_000206 - - - - De novo - - - - - DNA SEQ-NG-I - WGS CMH11 - Pending - M - France - - - - - 1 Camille Verebi
?/. 3 c.361A>G r.(?) p.(Met121Val) Parent #1 - VUS g.35085539T>C g.34793338T>C NM_005159:c.A361G - ACTC1_000022 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.362T>C r.(?) p.(Met121Thr) Unknown - VUS g.35085538A>G g.34793337A>G - - ACTC1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.373A>G r.(?) p.(Met125Val) Parent #1 - pathogenic g.35085527T>C g.34793326T>C Met123Val - ACTC1_000015 linkage analysis; not in 580 control chromosomes PubMed: Matsson 2008, OMIM:var0005 - - Germline - - - - - DNA SEQ - - ASD5 - - 5-generation family 16 affecteds - - Sweden - - - - - 16 Johan den Dunnen
+/. 3 c.373A>G r.(?) p.(Met125Val) Parent #1 - pathogenic g.35085527T>C g.34793326T>C Met123Val - ACTC1_000015 linkage analysis; not in 580 control chromosomes PubMed: Matsson 2008, OMIM:var0005 - - Germline - - - - - DNA SEQ - - ASD5 - - 5-generation family 12 affecteds - - Sweden - - - - - 12 Johan den Dunnen
+?/. - c.374T>C r.(?) p.(Met125Thr) Unknown - likely pathogenic g.35085526A>G - ACTC1(NM_005159.5):c.374T>C (p.M125T) - ACTC1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.383C>T r.(?) p.(Thr128Ile) Unknown - pathogenic g.35085517G>A g.34793316G>A ACTC1(NM_005159.4):c.383C>T (p.T128I) - ACTC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393C>T r.(?) p.(Val131=) Unknown - likely benign g.35085507G>A - ACTC1(NM_005159.4):c.393C>T (p.V131=) - ACTC1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.399C>T r.(?) p.(Ala133=) Unknown - benign g.35085501G>A - ACTC1(NM_005159.5):c.399C>T (p.A133=) - ACTC1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401T>C r.(?) p.(Met134Thr) Unknown - VUS g.35085499A>G - ACTC1(NM_005159.5):c.401T>C (p.M134T) - ACTC1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423G>A r.(?) p.(Val141=) Unknown - benign g.35085477C>T g.34793276C>T ACTC1(NM_005159.5):c.423G>A (p.V141=) - ACTC1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447T>C r.(?) p.(Arg149=) Unknown - likely benign g.35085453A>G g.34793252A>G ACTC1(NM_005159.4):c.447T>C (p.R149=), ACTC1(NM_005159.5):c.447T>C (p.(Arg149=)) - ACTC1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447T>C r.(?) p.(Arg149=) Unknown - likely benign g.35085453A>G g.34793252A>G ACTC1(NM_005159.4):c.447T>C (p.R149=), ACTC1(NM_005159.5):c.447T>C (p.(Arg149=)) - ACTC1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447T>C r.(?) p.(Arg149=) Unknown - likely benign g.35085453A>G - ACTC1(NM_005159.4):c.447T>C (p.R149=), ACTC1(NM_005159.5):c.447T>C (p.(Arg149=)) - ACTC1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454+7T>C r.(=) p.(=) Unknown - likely benign g.35085439A>G - ACTC1(NM_005159.4):c.454+7T>C - ACTC1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.454+9G>A r.(=) p.(=) Unknown - benign g.35085437C>T g.34793236C>T ACTC1(NM_005159.4):c.454+9G>A, ACTC1(NM_005159.5):c.454+9G>A - ACTC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454+9G>A r.(=) p.(=) Unknown - likely benign g.35085437C>T g.34793236C>T ACTC1(NM_005159.4):c.454+9G>A, ACTC1(NM_005159.5):c.454+9G>A - ACTC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455-7C>T r.(=) p.(=) Unknown - likely benign g.35084777G>A g.34792576G>A ACTC1(NM_005159.5):c.455-7C>T - ACTC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455-6G>A r.(=) p.(=) Unknown - VUS g.35084776C>T g.34792575C>T ACTC1(NM_005159.5):c.455-6G>A - ACTC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456C>T r.(?) p.(Gly152=) Unknown - benign g.35084769G>A g.34792568G>A ACTC1(NM_005159.4):c.456C>T (p.G152=), ACTC1(NM_005159.5):c.456C>T (p.G152=) - ACTC1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.456C>T r.(?) p.(Gly152=) Unknown - VUS g.35084769G>A g.34792568G>A ACTC1(NM_005159.4):c.456C>T (p.G152=), ACTC1(NM_005159.5):c.456C>T (p.G152=) - ACTC1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456C>T r.(?) p.(Gly152=) Unknown - likely benign g.35084769G>A g.34792568G>A ACTC1(NM_005159.4):c.456C>T (p.G152=), ACTC1(NM_005159.5):c.456C>T (p.G152=) - ACTC1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475G>A r.(?) p.(Asp159Asn) Unknown - VUS g.35084750C>T g.34792549C>T - - ACTC1_000167 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/748 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.496C>G r.(?) p.(Pro166Ala) Parent #1 - pathogenic g.35084729G>C g.34792528G>C C>G Pro164Ala - ACTC1_000002 not in 300 control chromosomes; de novo in patient PubMed: Olson 2000 - - De novo - - - - - DNA SSCA, SEQ - - CMH11 - - - - - United States - - - - - 1 Johan den Dunnen
-?/. 4 c.496C>G r.(?) p.Pro166Ala Unknown - NA g.35084729G>C g.34792528G>C - - ACTC1_000002 expression cloning yeast; no difference compared to wild-type PubMed: Wong 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.503A>G r.(?) p.(Tyr168Cys) Parent #1 - pathogenic g.35084722T>C g.34792521T>C 1153A>G (Tyr166Cys) - ACTC1_000003 not in 150 control chromosomes PubMed: Mogensen 2004 - - Germline - - - - - DNA SSCA - - - - - family, 4 affecteds - - - - - - - - 4 Johan den Dunnen
+?/. - c.503A>G r.(?) p.(Tyr168Cys) Unknown - likely pathogenic g.35084722T>C g.34792521T>C ACTC1(NM_005159.4):c.503A>G (p.Y168C) - ACTC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.503A>T r.(?) p.(Tyr168Phe) Unknown - benign g.35084722T>A g.34792521T>A ACTC1(NM_005159.4):c.503A>T (p.Y168F) - ACTC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514G>A r.(?) p.(Ala172Thr) Unknown - VUS g.35084711C>T - - - ACTC1_000192 - - - rs876661340 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.515C>T r.(?) p.(Ala172Val) Unknown - VUS g.35084710G>A - ACTC1(NM_005159.4):c.515C>T (p.A172V) - ACTC1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537T>A r.(?) p.(Arg179=) Unknown - likely benign g.35084688A>T g.34792487A>T ACTC1(NM_005159.4):c.537T>A (p.R179=), ACTC1(NM_005159.5):c.537T>A (p.R179=) - ACTC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537T>A r.(?) p.(Arg179=) Unknown - likely benign g.35084688A>T g.34792487A>T ACTC1(NM_005159.4):c.537T>A (p.R179=), ACTC1(NM_005159.5):c.537T>A (p.R179=) - ACTC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537T>A r.(?) p.(Arg179=) Unknown - benign g.35084688A>T - ACTC1(NM_005159.4):c.537T>A (p.R179=), ACTC1(NM_005159.5):c.537T>A (p.R179=) - ACTC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.541G>C r.(?) p.(Asp181His) Unknown - VUS g.35084684C>G g.34792483C>G ACTC1(NM_005159.4):c.541G>C (p.D181H) - ACTC1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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