All variants in the ACTC1 gene

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.

229 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-23+15G>T r.(=) p.(=) - likely benign g.35087692C>A - ACTC1(NM_005159.4):c.-23+15G>T - ACTC1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.7G>C r.(?) p.(Asp3His) - VUS g.35087003C>G g.34794802C>G - - ACTC1_000175 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/748 cases - - - Johan den Dunnen
?/. - c.10G>A r.(?) p.(Asp4Asn) - 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 - - - - - VKGL-NL_Utrecht
+?/. - c.20C>T r.(?) p.(Thr7Ile) - likely pathogenic g.35086990G>A - - - ACTC1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.28C>A r.(?) p.(Leu10Met) - VUS g.35086982G>T g.34794781G>T - - ACTC1_000174 - PubMed: Walsh 2017 - - Germline - 2/2650 cases - - - Johan den Dunnen
?/. - c.31G>A r.(?) p.(Val11Met) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.66C>T r.(?) p.(Gly22=) - likely benign g.35086944G>A g.34794743G>A - - ACTC1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.76G>A r.(?) p.(Asp26Asn) - VUS g.35086934C>T g.34794733C>T - - ACTC1_000173 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. - c.76G>A r.(?) p.(Asp26Asn) - VUS g.35086934C>T g.34794733C>T - - ACTC1_000173 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - Johan den Dunnen
+?/. - c.76G>A r.(?) p.(Asp26Asn) - likely pathogenic g.35086934C>T - ACTC1(NM_005159.4):c.76G>A (p.D26N) - ACTC1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.83C>T r.(?) p.(Ala28Val) - VUS g.35086927G>A g.34794726G>A - - ACTC1_000172 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - Johan den Dunnen
?/. - c.101C>T r.(?) p.(Pro34Leu) - VUS g.35086909G>A g.34794708G>A - - ACTC1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.107_120delinsC r.(?) p.(Ile36ThrfsTer17) - likely pathogenic g.35086890_35086903delinsG g.34794689_34794702delinsG - - ACTC1_000181 secondary finding - - - Germline - - - - - LOVD
?/. - c.110T>C r.(?) p.(Val37Ala) - VUS g.35086900A>G g.34794699A>G - - ACTC1_000171 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. - c.124C>T r.(?) p.(His42Tyr) - VUS g.35086886G>A g.34794685G>A - - ACTC1_000170 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
?/. - c.129G>A r.(?) p.(Gln43=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.129+6C>G r.(=) p.(=) - benign g.35086875G>C g.34794674G>C ACTC1(NM_005159.5):c.129+6C>G - ACTC1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.129+16_129+17insC r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.129+19_129+20insT r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
-/. - c.129+19_129+20insT r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. - c.129+19_129+20insT r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.129+23dup r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
-/. - c.129+23dup r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.129+23dup r.(=) p.(=) - 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 - - - - - VKGL-NL_Nijmegen
-?/. - c.129+32C>A r.(=) p.(=) - likely benign g.35086849G>T g.34794648G>T - - ACTC1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.130-18C>A r.(=) p.(=) - benign g.35085788G>T g.34793587G>T ACTC1(NM_005159.5):c.130-18C>A - ACTC1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.165C>T r.(?) p.(Tyr55=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.165C>T r.(?) p.(Tyr55=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.165C>T r.(?) p.(Tyr55=) - 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 - - - - - VKGL-NL_Nijmegen
-?/. - c.165C>T r.(?) p.(Tyr55=) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.204C>T r.(?) p.(Thr68=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 3 c.215_231del r.(?) p.(Pro72Hisfs*18) - pathogenic g.35085674_35085690del g.34793473_34793489del - - ACTC1_000016 not in 580 control chromosomes PubMed: Matsson 2008, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
-?/. - c.219C>T r.(?) p.(Ile73=) - 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 - - - - - VKGL-NL_Rotterdam
-/. - c.219C>T r.(?) p.(Ile73=) - 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 - - - - - VKGL-NL_AMC
?/. - c.229A>G r.(?) p.(Ile77Val) - VUS g.35085671T>C g.34793470T>C - - ACTC1_000169 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - Johan den Dunnen
-?/. - c.240C>T r.(?) p.(Asn80=) - likely benign g.35085660G>A - - - ACTC1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.250A>T r.(?) p.(Met84Leu) - VUS g.35085650T>A - ACTC1(NM_005159.4):c.250A>T (p.M84L) - ACTC1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.251T>C r.(?) p.(Met84Thr) - likely pathogenic g.35085649A>G g.34793448A>G - - ACTC1_000020 - - - - Germline yes - - - - Patrice Bouvagnet
+?/. 3 c.251T>C r.(?) p.(Met84Thr) - likely pathogenic g.35085649A>G g.34793448A>G - - ACTC1_000020 Absent from ESP and ExAC - - - Germline yes - - - - Patrice Bouvagnet
+/. 3 c.268C>T r.(?) p.(His90Tyr) - pathogenic g.35085632G>A g.34793431G>A - - ACTC1_000013 not in 1000 control chromosomes PubMed: Morita 2008, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
?/. - c.268C>T r.(?) p.(His90Tyr) - VUS g.35085632G>A g.34793431G>A - - ACTC1_000013 - PubMed: Walsh 2017 - - Germline - 1/2650 cases - - - Johan den Dunnen
?/. - c.274_279del r.(?) p.(Phe92_Tyr93del) - 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 - - - - - VKGL-NL_Utrecht
+?/. 3 c.275_277del r.(?) p.(Phe92del) - likely pathogenic g.35085625_35085627del g.34793424_34793426del 2385_2387delTCT - ACTC1_000018 - PubMed: Kaski 2009 - - Unknown - - - - - Peikuan Cong
+?/. - c.281A>G r.(?) p.(Asn94Ser) - likely pathogenic g.35085619T>C g.34793418T>C - - ACTC1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.289C>T r.(?) p.(Arg97Cys) - pathogenic g.35085611G>A g.34793410G>A - - ACTC1_000014 not in 1000 control chromosomes PubMed: Morita 2008 - - Germline - - - - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T G>A Glu99Lys - ACTC1_000001 not in 300 control chromosomes PubMed: Olson 2000 - - Germline - - AvaI- - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T G515A (E101K) - ACTC1_000001 founder mutation PubMed: Arad 2005, PubMed: Monserrat 2007 - - Germline - - AvaI- - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T G515A (E101K) - ACTC1_000001 founder mutation PubMed: Arad 2005, PubMed: Monserrat 2007 - - Germline - - AvaI- - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 founder mutation PubMed: Monserrat 2007 - - Germline - - AvaI- - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 founder mutation PubMed: Monserrat 2007 - - Germline - - AvaI- - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 founder mutation PubMed: Monserrat 2007 - - Germline - - AvaI- - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T 478G>A - ACTC1_000001 - PubMed: Klaassen 2008 - - Germline - - - - - Johan den Dunnen
+/. 3 c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T 478G>A - ACTC1_000001 - PubMed: Klaassen 2008 - - Germline - - - - - Johan den Dunnen
+/. - c.301G>A r.(?) p.(Glu101Lys) - 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 - - - - - VKGL-NL_AMC
+/. - c.301G>A r.(?) p.(Glu101Lys) - 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 - - - - - VKGL-NL_Rotterdam
+/. - c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - Johan den Dunnen
+/. - c.301G>A r.(?) p.(Glu101Lys) - pathogenic g.35085599C>T g.34793398C>T - - ACTC1_000001 - PubMed: Walsh 2017 - - Germline - 4/2650 cases - - - Johan den Dunnen
+/. - c.308A>G r.(?) p.(His103Arg) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.333G>A r.(?) p.(Pro111=) - likely benign g.35085567C>T - - - ACTC1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.355G>C r.(?) p.(Glu119Gln) - VUS g.35085545C>G g.34793344C>G - - ACTC1_000168 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/748 cases - - - Johan den Dunnen
?/. 3 c.361A>G r.(?) p.(Met121Val) - VUS g.35085539T>C g.34793338T>C NM_005159:c.A361G - ACTC1_000022 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. - c.362T>C r.(?) p.(Met121Thr) - VUS g.35085538A>G g.34793337A>G - - ACTC1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.373A>G r.(?) p.(Met125Val) - pathogenic g.35085527T>C g.34793326T>C Met123Val - ACTC1_000015 linkage analysis; not in 580 control chromosomes PubMed: Matsson 2008, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+/. 3 c.373A>G r.(?) p.(Met125Val) - pathogenic g.35085527T>C g.34793326T>C Met123Val - ACTC1_000015 linkage analysis; not in 580 control chromosomes PubMed: Matsson 2008, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+/. - c.383C>T r.(?) p.(Thr128Ile) - 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 - - - - - VKGL-NL_Rotterdam
+?/. - c.383C>T r.(?) p.(Thr128Ile) - likely 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 - - - - - VKGL-NL_Nijmegen
-?/. - c.393C>T r.(?) p.(Val131=) - likely benign g.35085507G>A - ACTC1(NM_005159.4):c.393C>T (p.V131=) - ACTC1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.399C>T r.(?) p.(Ala133=) - benign g.35085501G>A - ACTC1(NM_005159.5):c.399C>T (p.A133=) - ACTC1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.401T>C r.(?) p.(Met134Thr) - VUS g.35085499A>G - ACTC1(NM_005159.5):c.401T>C (p.M134T) - ACTC1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.423G>A r.(?) p.(Val141=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.447T>C r.(?) p.(Arg149=) - likely benign g.35085453A>G g.34793252A>G ACTC1(NM_005159.4):c.447T>C (p.R149=) - ACTC1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.447T>C r.(?) p.(Arg149=) - likely benign g.35085453A>G g.34793252A>G ACTC1(NM_005159.4):c.447T>C (p.R149=) - ACTC1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.454+7T>C r.(=) p.(=) - likely benign g.35085439A>G - ACTC1(NM_005159.4):c.454+7T>C - ACTC1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.454+9G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.454+9G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.455-7C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. - c.455-6G>A r.(=) p.(=) - VUS g.35084776C>T g.34792575C>T ACTC1(NM_005159.5):c.455-6G>A - ACTC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.456C>T r.(?) p.(Gly152=) - 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 - - - - - VKGL-NL_AMC
?/. - c.456C>T r.(?) p.(Gly152=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.456C>T r.(?) p.(Gly152=) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.475G>A r.(?) p.(Asp159Asn) - VUS g.35084750C>T g.34792549C>T - - ACTC1_000167 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/748 cases - - - Johan den Dunnen
+/. 4 c.496C>G r.(?) p.(Pro166Ala) - 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 - - - - - Johan den Dunnen
-?/. 4 c.496C>G r.(?) p.Pro166Ala - NA g.35084729G>C g.34792528G>C - - ACTC1_000002 expression cloning yeast; no difference compared to wild-type PubMed: Wong 2001 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 4 c.503A>G r.(?) p.(Tyr168Cys) - pathogenic g.35084722T>C g.34792521T>C 1153A>G (Tyr166Cys) - ACTC1_000003 not in 150 control chromosomes PubMed: Mogensen 2004 - - Germline - - - - - Johan den Dunnen
+?/. - c.503A>G r.(?) p.(Tyr168Cys) - 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 - - - - - VKGL-NL_Utrecht
-/. - c.503A>T r.(?) p.(Tyr168Phe) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.515C>T r.(?) p.(Ala172Val) - VUS g.35084710G>A - ACTC1(NM_005159.4):c.515C>T (p.A172V) - ACTC1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.537T>A r.(?) p.(Arg179=) - likely benign g.35084688A>T g.34792487A>T ACTC1(NM_005159.4):c.537T>A (p.R179=) - ACTC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.537T>A r.(?) p.(Arg179=) - likely benign g.35084688A>T g.34792487A>T ACTC1(NM_005159.4):c.537T>A (p.R179=) - ACTC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.541G>C r.(?) p.(Asp181His) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.583C>T r.(?) p.(Leu195Phe) - VUS g.35084642G>A - ACTC1(NM_005159.4):c.583C>T (p.L195F) - ACTC1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.616+1G>A r.spl p.? - VUS g.35084608C>T g.34792407C>T - - ACTC1_000166 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/748 cases - - - Johan den Dunnen
-?/. - c.617-7T>C r.(=) p.(=) - likely benign g.35084489A>G g.34792288A>G ACTC1(NM_005159.4):c.617-7T>C - ACTC1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.617-7T>C r.(=) p.(=) - likely benign g.35084489A>G - ACTC1(NM_005159.4):c.617-7T>C - ACTC1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.622C>T r.(?) p.(Arg208Cys) - VUS g.35084477G>A g.34792276G>A ACTC1(NM_005159.4):c.622C>T (p.R208C), ACTC1(NM_005159.5):c.622C>T (p.R208C) - ACTC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.622C>T r.(?) p.(Arg208Cys) - VUS g.35084477G>A g.34792276G>A ACTC1(NM_005159.4):c.622C>T (p.R208C), ACTC1(NM_005159.5):c.622C>T (p.R208C) - ACTC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.623G>A r.(?) p.(Arg208His) - VUS g.35084476C>T g.34792275C>T ACTC1(NM_005159.5):c.623G>A (p.R208H) - ACTC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.623G>A r.(?) p.(Arg208His) - VUS g.35084476C>T g.34792275C>T ACTC1(NM_005159.5):c.623G>A (p.R208H) - ACTC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.635G>A r.(?) p.(Arg212His) - VUS g.35084464C>T - ACTC1(NM_005159.4):c.635G>A (p.R212H) - ACTC1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.635G>A r.(?) p.(Arg212His) - VUS g.35084464C>T - ACTC1(NM_005159.4):c.635G>A (p.R212H) - ACTC1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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