Unique variants in the ACTG1 gene

Information The variants shown are described using the NM_001614.3 transcript reference sequence.

139 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
-/. 1 - c.-55G>A r.(?) p.(=) - benign g.79479808C>T g.81512782C>T - - ACTG1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-39C>T r.(?) p.(=) - likely benign g.79479792G>A g.81512766G>A - - ACTG1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-7+126C>T r.(=) p.(=) - likely benign g.79479634G>A g.81512608G>A ACTG1(NM_001199954.1):c.-7+7C>T (p.(=)) - ACTG1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-6-7C>T r.(=) p.(=) - likely benign g.79479393G>A g.81512367G>A ACTG1(NM_001199954.2):c.-6-7C>T - ACTG1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.-6-3C>T r.spl? p.? - benign, likely benign g.79479389G>A g.81512363G>A ACTG1(NM_001199954.1):c.-6-3C>T (p.(=)), ACTG1(NM_001199954.2):c.-6-3C>T - ACTG1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.15C>T r.(?) p.(Ile5=) - benign g.79479366G>A g.81512340G>A ACTG1(NM_001199954.2):c.15C>T (p.I5=) - ACTG1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.18C>T r.(?) p.(Ala6=) - likely benign g.79479363G>A g.81512337G>A ACTG1(NM_001199954.2):c.18C>T (p.A6=) - ACTG1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.22C>T r.(?) p.(Leu8=) - likely benign g.79479359G>A g.81512333G>A ACTG1(NM_001199954.2):c.22C>T (p.L8=) - ACTG1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.39C>T r.(?) p.(Gly13=) - likely benign g.79479342G>A g.81512316G>A ACTG1(NM_001199954.2):c.39C>T (p.G13=) - ACTG1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/? 1 2 c.81C>T r.(=) p.(=) - VUS g.79479300G>A g.81512274G>A - - ACTG1_000135 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.82C>G r.(?) p.(Arg28Gly) - likely benign g.79479299G>C g.81512273G>C - - ACTG1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.83G>T r.(?) p.(Arg28Leu) - likely pathogenic g.79479298C>A - - - ACTG1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 02 c.94C>T r.(?) p.(Pro32Ser) ACMG pathogenic g.79479287G>A g.81512261G>A - - ACTG1_000136 - - - - Germline yes - - - - Camille Cenni
?/. 1 - c.98C>G r.(?) p.(Ser33Cys) - VUS g.79479283G>C g.81512257G>C - - ACTG1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.124-8C>T r.(=) p.(=) - likely benign g.79479176G>A g.81512150G>A ACTG1(NM_001199954.2):c.124-8C>T - ACTG1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.126C>T r.(?) p.(Gly42=) - likely benign g.79479166G>A g.81512140G>A ACTG1(NM_001199954.2):c.126C>T (p.G42=) - ACTG1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+, +/. 2 3 c.151G>A r.(?) p.(Asp51Asn) - pathogenic g.79479141C>T g.81512115C>T - - ACTG1_000077 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: de Heer 2009 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
-?/. 1 - c.153C>T r.(?) p.(Asp51=) - likely benign g.79479139G>A g.81512113G>A ACTG1(NM_001199954.2):c.153C>T (p.D51=) - ACTG1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 3 c.159C>T r.(=) p.(=) - likely benign g.79479133G>A g.81512107G>A - - ACTG1_000134 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/. 1 3 c.176A>G r.(176a>g) p.(Gln59Arg) - likely pathogenic (dominant) g.79479116T>C g.81512090T>C - - ACTG1_000106 - PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - - De novo - - - - - Oscar F Chacon-Camacho
-/., -?/. 2 - c.177G>A r.(?) p.(Gln59=) - benign, likely benign g.79479115C>T g.81512089C>T ACTG1(NM_001199954.2):c.177G>A (p.Q59=) - ACTG1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.180C>T r.(?) p.(Ser60=) - VUS g.79479112G>A g.81512086G>A ACTG1(NM_001199954.2):c.180C>T (p.S60=) - ACTG1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+?, +?/. 2 3 c.197C>T r.(?) p.(Thr66Ile) - likely pathogenic g.79479095G>A g.81512069G>A - - ACTG1_000102 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
+?/. 1 - c.212T>C r.(?) p.(Ile71Thr) - likely pathogenic g.79479080A>G g.81512054A>G ACTG1(NM_001614.3):c.212T>C (p.(Ile71Thr)) - ACTG1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.225C>T r.(?) p.(Ile75=) - likely benign g.79479067G>A g.81512041G>A ACTG1(NM_001199954.2):c.225C>T (p.I75=) - ACTG1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.228C>T r.(?) p.(Val76=) - likely benign g.79479064G>A g.81512038G>A ACTG1(NM_001199954.2):c.228C>T (p.V76=) - ACTG1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.231C>T r.(?) p.(Thr77=) - likely benign g.79479061G>A g.81512035G>A ACTG1(NM_001199954.2):c.231C>T (p.T77=) - ACTG1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.237G>T r.(?) p.(Trp79Cys) - VUS g.79479055C>A g.81512029C>A ACTG1(NM_001199954.1):c.237G>T (p.(Trp79Cys)) - ACTG1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/-?, -?/. 2 3 c.255C>T r.(=), r.(?) p.(=), p.(Ile85=) - likely benign g.79479037G>A g.81512011G>A ACTG1(NM_001199954.2):c.255C>T (p.I85=) - ACTG1_000054 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam
?/. 1 - c.262C>T r.(?) p.(His88Tyr) - VUS g.79479030G>A g.81512004G>A - - ACTG1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +?/. 3 3 c.266C>T r.(?) p.(Thr89Ile) - likely pathogenic, pathogenic g.79479026G>A g.81512000G>A - - ACTG1_000007 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Zhu 2003, PubMed: Bryan 2009, 1 more item rs28999111 - CLASSIFICATION record, SUMMARY record, Unknown - - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti, VKGL-NL_Nijmegen
-?/. 1 - c.309G>A r.(?) p.(Val103=) - likely benign g.79478983C>T g.81511957C>T ACTG1(NM_001199954.2):c.309G>A (p.V103=) - ACTG1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.328dup r.(?) p.(Leu110ProfsTer16) - VUS g.79478969dup g.81511943dup ACTG1(NM_001199954.2):c.328dupC (p.L110Pfs*16) - ACTG1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 3 c.333C>T r.(=) p.(=) - likely benign g.79478959G>A g.81511933G>A - - ACTG1_000133 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 1 - c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.79478957G>A g.81511931G>A - - ACTG1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +/? 4 03, 3 c.353A>T r.(?) p.(Lys118Met) ACMG likely pathogenic, pathogenic g.79478939T>A g.81511913T>A - - ACTG1_000008 submitted through SIB; ExPASy_032435, VKGL data sharing initiative Nederland PubMed: Zhu et al (2003), {dbSNP:104894544}, 1 more item ClinVar-18316 rs104894544 CLASSIFICATION record, Germline, SUMMARY record, Unknown yes - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti, VKGL-NL_Nijmegen, Camille Cenni
+/+, +/? 3 03, 3 c.354G>C r.(?) p.(Lys118Asn) ACMG pathogenic g.79478938C>G g.81511912C>G - - ACTG1_000013 submitted through SIB; ExPASy_067824 MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Morín 2009, PubMed: Kruth 2012, 2 more items ClinVar-18321 rs267606630 Germline, SUMMARY record, Unknown yes 0.000007986 - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti, Camille Cenni
+/+, +/. 2 3 c.359C>T r.(?) p.(Thr120Ile) - pathogenic, pathogenic (dominant) g.79478933G>A g.81511907G>A - - ACTG1_000001 submitted through SIB; ExPASy_067814 MORL Deafness Variation Database, PubMed: Rivière 2012, PubMed: Rivière 2012 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti
-/. 3 - c.363+13C>A r.(=) p.(=) - benign g.79478916G>T g.81511890G>T ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A - ACTG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.363+14G>A r.(=) p.(=) - likely benign g.79478915C>T g.81511889C>T ACTG1(NM_001199954.2):c.363+14G>A - ACTG1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 3i c.363+58G>A r.(?) p.(=) - likely benign g.79478871C>T g.81511845C>T - - ACTG1_000016 - - - - Germline - - - - - Yu Sun
-?/. 1 3i c.363+59G>T r.(?) p.(=) - likely benign g.79478870C>A g.81511844C>A - - ACTG1_000017 - - - - Germline - - - - - Yu Sun
-?/-? 1 3i c.364-8C>T r.(=) p.(=) - likely benign g.79478660G>A g.81511634G>A - - ACTG1_000132 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/? 2 4 c.364A>G r.(?) p.(Ile122Val) - pathogenic g.79478652T>C g.81511626T>C - - ACTG1_000015 submitted through SIB; ExPASy_067825 MORL Deafness Variation Database, PubMed: Liu 2008, PubMed: Liu et al (2008) - - SUMMARY record, Unknown - - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti
-?/. 1 - c.390G>A r.(?) p.(Pro130=) - likely benign g.79478626C>T - ACTG1(NM_001199954.2):c.390G>A (p.P130=) - ACTG1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.399C>A r.(?) p.(Tyr133Ter) - VUS g.79478617G>T g.81511591G>T ACTG1(NM_001199954.2):c.399C>A (p.Y133*) - ACTG1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.399C>T r.(?) p.(Tyr133=) - benign, likely benign g.79478617G>A g.81511591G>A ACTG1(NM_001199954.2):c.399C>T (p.Y133=) - ACTG1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+, +/. 3 4 c.404C>T r.(?) p.(Ala135Val) - pathogenic, pathogenic (dominant) g.79478612G>A g.81511586G>A - - ACTG1_000002 submitted through SIB; ExPASy_067815 MORL Deafness Variation Database, PubMed: Rivière 2012, PubMed: Verloes 2015, PubMed: Rivière 2012, 1 more item ClinVar-SCV000148640 - De novo, Germline/De novo (untested), SUMMARY record - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, SIB - Livia Famiglietti
-?/-?, -?/. 2 4 c.414C>T r.(=), r.(?) p.(=), p.(Ala138=) - likely benign g.79478602G>A g.81511576G>A ACTG1(NM_001199954.2):c.414C>T (p.A138=) - ACTG1_000049 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013, PubMed: Richards 2015 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam
+?/. 1 - c.430G>C r.(?) p.(Ala144Pro) - likely pathogenic g.79478586C>G g.81511560C>G - - ACTG1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/-? 1 4 c.432C>T r.(=) p.(=) - likely benign g.79478584G>A g.81511558G>A - - ACTG1_000131 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/. 1 4 c.434C>T r.(?) p.(Ser145Phe) - likely pathogenic g.79478582G>A g.81511556G>A - - ACTG1_000023 - PubMed: Baux 2017, Journal: Baux 2017 - - De novo - - - - - David Baux
+/+, +/. 4 4 c.464C>T r.(?) p.(Ser155Phe) - pathogenic, pathogenic (dominant) g.79478552G>A g.81511526G>A - - ACTG1_000003 parents not available, submitted through SIB; ExPASy_067816 PubMed: Rivière 2012, 1 more item - - De novo, Germline/De novo (untested), SUMMARY record - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, SIB - Livia Famiglietti
-?/. 1 - c.471C>T r.(?) p.(Asp157=) - likely benign g.79478545G>A g.81511519G>A ACTG1(NM_001199954.2):c.471C>T (p.D157=) - ACTG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.476T>C r.(?) p.(Val159Ala) - VUS g.79478540A>G g.81511514A>G - - ACTG1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, ?/. 2 4 c.485C>T r.(?) p.(Thr162Met) - pathogenic, VUS g.79478531G>A g.81511505G>A - - ACTG1_000130 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
-?/-? 1 4 c.498C>T r.(=) p.(=) - likely benign g.79478518G>A g.81511492G>A - - ACTG1_000129 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.507C>T r.(?) p.(Tyr169=) - likely benign g.79478509G>A g.81511483G>A ACTG1(NM_001199954.2):c.507C>T (p.Y169=) - ACTG1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.511C>T r.(?) p.(Leu171Phe) - VUS g.79478505G>A g.81511479G>A - - ACTG1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.515C>G r.(?) p.(Pro172Arg) - VUS g.79478501G>C g.81511475G>C - - ACTG1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 4 c.519C>T r.(=) p.(=) - VUS g.79478497G>A g.81511471G>A - - ACTG1_000128 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.520G>T r.(?) p.(Ala174Ser) - VUS g.79478496C>A g.81511470C>A - - ACTG1_000127 - MORL Deafness Variation Database, PubMed: Richards 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.521C>G r.(?) p.(Ala174Gly) - VUS g.79478495G>C g.81511469G>C - - ACTG1_000126 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-?, -?/. 2 4 c.531T>C r.(=), r.(?) p.(=), p.(Arg177=) - likely benign g.79478485A>G g.81511459A>G ACTG1(NM_001199954.2):c.531T>C (p.R177=) - ACTG1_000046 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013, PubMed: Richards 2015 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam
-?/. 1 - c.546C>T r.(?) p.(Gly182=) - likely benign g.79478470G>A g.81511444G>A ACTG1(NM_001199954.2):c.546C>T (p.G182=) - ACTG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.547C>T r.(?) p.(Arg183Trp) - VUS g.79478469G>A - ACTG1(NM_001199954.2):c.547C>T (p.R183W) - ACTG1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.548G>A r.(?) p.(Arg183Gln) - likely pathogenic g.79478468C>T g.81511442C>T - - ACTG1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 4 c.559G>C r.(?) p.(Asp187His) - pathogenic g.79478457C>G g.81511431C>G - - ACTG1_000125 - MORL Deafness Variation Database, PubMed: Baek 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.564C>T r.(?) p.(Tyr188=) - likely benign g.79478452G>A g.81511426G>A ACTG1(NM_001199954.2):c.564C>T (p.Y188=) - ACTG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 4 c.576C>T r.(=) p.(=) - likely benign g.79478440G>A g.81511414G>A - - ACTG1_000124 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.591C>G r.(?) p.(Gly197=) - likely benign g.79478425G>C g.81511399G>C ACTG1(NM_001199954.2):c.591C>G (p.G197=) - ACTG1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.594C>T r.(?) p.(Tyr198=) - likely benign g.79478422G>A g.81511396G>A ACTG1(NM_001199954.2):c.594C>T (p.Y198=) - ACTG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 4 c.598T>A r.(?) p.(Phe200Ile) - likely pathogenic g.79478418A>T g.81511392A>T - - ACTG1_000123 - MORL Deafness Variation Database, PubMed: Richards 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/. 1 - c.598T>C r.(?) p.(Phe200Leu) - likely pathogenic g.79478418A>G g.81511392A>G - - ACTG1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 2 4 c.608C>A r.(?) p.(Thr203Lys) - pathogenic, pathogenic (dominant) g.79478408G>T g.81511382G>T - - ACTG1_000004 submitted through SIB; ExPASy_067817 MORL Deafness Variation Database, PubMed: Rivière 2012, PubMed: Rivière 2012 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti
+?/. 1 4 c.608C>T r.(608c>u) p.(Thr203Met) - pathogenic (dominant) g.79478408G>A g.81511382G>A - - ACTG1_000105 - PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - - De novo - - - - - Oscar F Chacon-Camacho
-?/. 1 - c.612C>T r.(?) p.(Ala204=) - likely benign g.79478404G>A g.81511378G>A ACTG1(NM_001199954.2):c.612C>T (p.A204=) - ACTG1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 4 c.626_632del r.(?) p.(Val209Alafs*73) - likely pathogenic g.79478384_79478390del g.81511358_81511364del 626_632delTGCGCGA - ACTG1_000021 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
-?/-?, -?/. 2 4 c.636C>A r.(=), r.(?) p.(=), p.(Ile212=) - likely benign g.79478380G>T g.81511354G>T ACTG1(NM_001199954.2):c.636C>A (p.I212=) - ACTG1_000108 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam
-?/. 1 - c.654C>T r.(?) p.(Tyr218=) - likely benign g.79478362G>A - ACTG1(NM_001199954.2):c.654C>T (p.Y218=) - ACTG1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.658dup r.(?), r.0 p.(Ala220GlyfsTer34), p.0 - likely benign, likely pathogenic g.79478358dup g.81511332dup ACTG1(NM_001199954.2):c.658dupG (p.A220Gfs*34) - ACTG1_000093 NMD of mRNA, VKGL data sharing initiative Nederland PubMed: Vandervore 2019 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - c.684C>T r.(?) p.(Ala228=) - likely benign g.79478332G>A g.81511306G>A ACTG1(NM_001199954.2):c.684C>T (p.A228=) - ACTG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.693A>G r.(?) p.(Ala231=) - benign g.79478323T>C g.81511297T>C ACTG1(NM_001199954.2):c.693A>G (p.A231=) - ACTG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.699_701del r.(?) p.(Ser235del) - VUS g.79478320_79478322del g.81511294_81511296del ACTG1(NM_001199954.2):c.699_701delCTC (p.S235del) - ACTG1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.701C>T r.(?) p.(Ser234Phe) - VUS g.79478315G>A g.81511289G>A ACTG1(NM_001199954.3):c.701C>T (p.S234F) - ACTG1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 - c.707T>C r.(?) p.(Leu236Pro) - pathogenic g.79478309A>G g.81511283A>G - - ACTG1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/? 3 4 c.721G>A r.(?) p.(Glu241Lys) ACMG likely pathogenic, pathogenic g.79478295C>T g.81511269C>T - - ACTG1_000014 submitted through SIB; ExPASy_067826 MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Duzkale 2013, PubMed: Morín 2009, 2 more items ClinVar-18322 rs267606631 Germline, SUMMARY record, Unknown yes - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti, Camille Cenni
?/. 1 - c.721G>C r.(?) p.(Glu241Gln) - VUS g.79478295C>G g.81511269C>G ACTG1(NM_001199954.2):c.721G>C (p.E241Q) - ACTG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.729C>T r.(?) p.(Pro243=) - benign, likely benign g.79478287G>A g.81511261G>A ACTG1(NM_001199954.2):c.729C>T (p.P243=) - ACTG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+, +/. 3 04, 4 c.760C>T r.(?) p.(Arg254Trp) ACMG pathogenic, pathogenic (dominant) g.79478256G>A g.81511230G>A - - ACTG1_000005 submitted through SIB; ExPASy_067818 MORL Deafness Variation Database, PubMed: Rivière 2012, PubMed: di Donato, 2016, 1 more item ClinVar-547802 rs151344528 De novo, SUMMARY record yes - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti, Camille Cenni
+/+, +/. 3 4 c.766C>T r.(?) p.(Arg256Trp) - pathogenic, pathogenic (dominant) g.79478250G>A g.81511224G>A - - ACTG1_000006 submitted through SIB; ExPASy_067819, VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Rivière 2012, PubMed: Rivière 2012 - - CLASSIFICATION record, De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti, VKGL-NL_Nijmegen
+/., +?/. 4 - c.773C>T r.(?) p.(Pro258Leu) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic g.79478243G>A g.81511217G>A ACTG1, c.773C>T, p.Pro258Leu, heterozygous - ACTG1_000022 ACMG: PS2_MOD, PS4_MOD, PM2_SUP, PP2, PP3, VKGL data sharing initiative Nederland PubMed: Perea-Romero 2021, PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 VCV000639093.18 - CLASSIFICATION record, De novo, Germline ?, yes - - - - Andreas Laner, Mieke Wesdorp, VKGL-NL_Nijmegen
-/. 1 - c.780G>A r.(?) p.(Ala260=) - benign g.79478236C>T g.81511210C>T ACTG1(NM_001199954.2):c.780G>A (p.A260=) - ACTG1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.786C>G r.(?) p.(Phe262Leu) - VUS g.79478230G>C g.81511204G>C - - ACTG1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/?, +?/. 3 4 c.791C>T r.(?) p.(Pro264Leu) - likely pathogenic, pathogenic g.79478225G>A g.81511199G>A - - ACTG1_000009 submitted through SIB; ExPASy_032436 PubMed: Zhu et al (2003), {dbSNP:104894546}, 1 more item - rs104894546 CLASSIFICATION record, SUMMARY record, Unknown - - - - - Global Variome, with Curator vacancy, SIB - Livia Famiglietti, MobiDetails
+?/+? 1 4 c.802G>A r.(?) p.(Gly268Ser) - likely pathogenic g.79478214C>T g.81511188C>T - - ACTG1_000122 - MORL Deafness Variation Database, PubMed: Mutai 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.802+15C>T r.(=) p.(=) - likely benign g.79478199G>A g.81511173G>A ACTG1(NM_001199954.2):c.802+15C>T - ACTG1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.803-7C>T r.(=) p.(=) - likely benign g.79478141G>A g.81511115G>A ACTG1(NM_001199954.2):c.803-7C>T - ACTG1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.817G>A r.(?) p.(Gly273Ser) - VUS g.79478120C>T - ACTG1(NM_001199954.2):c.817G>A (p.G273S) - ACTG1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 5 c.828G>A r.(=) p.(=) - likely benign g.79478109C>T g.81511083C>T - - ACTG1_000121 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
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