Full data view for gene ACTG1

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

202 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.-55G>A r.(?) p.(=) Unknown - benign g.79479808C>T g.81512782C>T - - ACTG1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39C>T r.(?) p.(=) Unknown - likely benign g.79479792G>A g.81512766G>A - - ACTG1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7+126C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6-7C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6-3C>T r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-6-3C>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6-3C>T r.spl? p.? Unknown - likely benign g.79479389G>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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15C>T r.(?) p.(Ile5=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.18C>T r.(?) p.(Ala6=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.22C>T r.(?) p.(Leu8=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39C>T r.(?) p.(Gly13=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.39C>T r.(?) p.(Gly13=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.81C>T r.(=) p.(=) Parent #1 - VUS g.79479300G>A g.81512274G>A - - ACTG1_000135 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Richards 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.82C>G r.(?) p.(Arg28Gly) Unknown - likely benign g.79479299G>C g.81512273G>C - - ACTG1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.83G>T r.(?) p.(Arg28Leu) Unknown - likely pathogenic g.79479298C>A - - - ACTG1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.94C>T r.(?) p.(Pro32Ser) Paternal (confirmed) ACMG pathogenic g.79479287G>A g.81512261G>A - - ACTG1_000136 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - DFNA20;DFNA26 - PubMed: Lee, 2018 - M no Korea - - 0 - - 2 Camille Cenni
?/. - c.98C>G r.(?) p.(Ser33Cys) Unknown - VUS g.79479283G>C g.81512257G>C - - ACTG1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.124-8C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>T r.(?) p.(Gly42=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>T r.(?) p.(Gly42=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.151G>A r.(?) p.(Asp51Asn) Unknown - pathogenic g.79479141C>T g.81512115C>T - - ACTG1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.151G>A r.(?) p.(Asp51Asn) Parent #1 - pathogenic g.79479141C>T g.81512115C>T - - ACTG1_000077 - MORL Deafness Variation Database, PubMed: de Heer 2009 - - SUMMARY record - - - 0 - DNA ? - - deafness - PubMed: de Heer 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.153C>T r.(?) p.(Asp51=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.159C>T r.(=) p.(=) Parent #1 - likely benign g.79479133G>A g.81512107G>A - - ACTG1_000134 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. 3 c.176A>G r.(176a>g) p.(Gln59Arg) Unknown - likely pathogenic (dominant) g.79479116T>C g.81512090T>C - - ACTG1_000106 - PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - - De novo - - - 0 - DNA SEQ BLOOD - BRWS Pat1 PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - M no Mexico - - 0 - - 1 Oscar F Chacon-Camacho
-?/. - c.177G>A r.(?) p.(Gln59=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.177G>A r.(?) p.(Gln59=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.180C>T r.(?) p.(Ser60=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.197C>T r.(?) p.(Thr66Ile) Unknown - likely pathogenic g.79479095G>A g.81512069G>A - - ACTG1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.197C>T r.(?) p.(Thr66Ile) Parent #1 - likely pathogenic g.79479095G>A g.81512069G>A - - ACTG1_000102 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - DNA ? - - deafness - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.212T>C r.(?) p.(Ile71Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225C>T r.(?) p.(Ile75=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T r.(?) p.(Val76=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.231C>T r.(?) p.(Thr77=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.237G>T r.(?) p.(Trp79Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.255C>T r.(?) p.(Ile85=) Unknown - likely benign g.79479037G>A g.81512011G>A ACTG1(NM_001199954.2):c.255C>T (p.I85=) - ACTG1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.255C>T r.(=) p.(=) Parent #1 - likely benign g.79479037G>A g.81512011G>A - - ACTG1_000054 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.262C>T r.(?) p.(His88Tyr) Unknown - VUS g.79479030G>A g.81512004G>A - - ACTG1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.266C>T r.(?) p.(Thr89Ile) Unknown - likely pathogenic g.79479026G>A g.81512000G>A - - ACTG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.266C>T r.(?) p.(Thr89Ile) Unknown - pathogenic g.79479026G>A g.81512000G>A - - ACTG1_000007 - PubMed: Zhu 2003, ExPASy_032434 rs28999111 - Unknown - - - 0 - DNA SEQ - - DFNA20;DFNA26 - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+ 3 c.266C>T r.(?) p.(Thr89Ile) Parent #1 - pathogenic g.79479026G>A g.81512000G>A - - ACTG1_000007 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Zhu 2003, PubMed: Bryan 2009 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>A r.(?) p.(Val103=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.328dup r.(?) p.(Leu110ProfsTer16) Unknown - VUS g.79478969dup g.81511943dup ACTG1(NM_001199954.2):c.328dupC (p.L110Pfs*16) - ACTG1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.333C>T r.(=) p.(=) Parent #1 - likely benign g.79478959G>A g.81511933G>A - - ACTG1_000133 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.335C>T r.(?) p.(Pro112Leu) Unknown - pathogenic g.79478957G>A g.81511931G>A - - ACTG1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.353A>T r.(?) p.(Lys118Met) Unknown - pathogenic g.79478939T>A g.81511913T>A - - ACTG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.353A>T r.(?) p.(Lys118Met) Unknown - pathogenic g.79478939T>A g.81511913T>A - - ACTG1_000008 submitted through SIB; ExPASy_032435 PubMed: Zhu et al (2003), {dbSNP:104894544} - - Unknown - - - 0 - DNA SEQ - - DFNA20;DFNA26 - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+ 3 c.353A>T r.(?) p.(Lys118Met) Parent #1 - pathogenic g.79478939T>A g.81511913T>A - - ACTG1_000008 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Zhu 2003, PubMed: Bryan 2009, PubMed: Kruth 2012 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 03 c.353A>T r.(?) p.(Lys118Met) Paternal (confirmed) ACMG likely pathogenic g.79478939T>A g.81511913T>A - - ACTG1_000008 - - ClinVar-18316 rs104894544 Germline yes - - 0 - DNA SEQ-NG-I blood WES DFNA20;DFNA26 IV1 PubMed: Wang, 2018 4 generation family with 10 affected individuals F no China - - 0 - - 10 Camille Cenni
+/? 3 c.354G>C r.(?) p.(Lys118Asn) Unknown - pathogenic g.79478938C>G g.81511912C>G - - ACTG1_000013 submitted through SIB; ExPASy_067824 PubMed: Morín et al (2009) - - Unknown - - - 0 - DNA SEQ - - DFNA20;DFNA26 - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+ 3 c.354G>C r.(?) p.(Lys118Asn) Parent #1 - pathogenic g.79478938C>G g.81511912C>G - - ACTG1_000013 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Morín 2009, PubMed: Kruth 2012 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 03 c.354G>C r.(?) p.(Lys118Asn) Paternal (confirmed) ACMG pathogenic g.79478938C>G g.81511912C>G - - ACTG1_000013 - PubMed: Morín, 2009 ClinVar-18321 rs267606630 Germline yes 0.000007986 - 0 - DNA PCR blood - DFNA20;DFNA26 S840:II.1 PubMed: Morín et al, 2009 - F no - - - 0 - - 2 Camille Cenni
+/. 3 c.359C>T r.(?) p.(Thr120Ile) Unknown - pathogenic (dominant) g.79478933G>A g.81511907G>A - - ACTG1_000001 submitted through SIB; ExPASy_067814 PubMed: Rivière 2012 - - De novo - - - 0 - DNA SEQ - - BRWS2 61458 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 SIB - Livia Famiglietti
+/+ 3 c.359C>T r.(?) p.(Thr120Ile) Parent #1 - pathogenic g.79478933G>A g.81511907G>A - - ACTG1_000001 - MORL Deafness Variation Database, PubMed: Rivière 2012 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.363+13C>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.363+13C>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.363+13C>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.363+14G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3i c.363+58G>A r.(?) p.(=) Unknown - likely benign g.79478871C>T g.81511845C>T - - ACTG1_000016 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 3i c.363+59G>T r.(?) p.(=) Unknown - likely benign g.79478870C>A g.81511844C>A - - ACTG1_000017 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/-? 3i c.364-8C>T r.(=) p.(=) Parent #1 - likely benign g.79478660G>A g.81511634G>A - - ACTG1_000132 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 4 c.364A>G r.(?) p.(Ile122Val) Unknown - pathogenic g.79478652T>C g.81511626T>C - - ACTG1_000015 submitted through SIB; ExPASy_067825 PubMed: Liu et al (2008) - - Unknown - - - 0 - DNA SEQ - - DFNA20;DFNA26 - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+ 4 c.364A>G r.(?) p.(Ile122Val) Parent #1 - pathogenic g.79478652T>C g.81511626T>C - - ACTG1_000015 - MORL Deafness Variation Database, PubMed: Liu 2008 - - SUMMARY record - - - 0 - DNA ? - - deafness - PubMed: Liu 2008 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.390G>A r.(?) p.(Pro130=) Unknown - likely benign g.79478626C>T - ACTG1(NM_001199954.2):c.390G>A (p.P130=) - ACTG1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.399C>A r.(?) p.(Tyr133Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399C>T r.(?) p.(Tyr133=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.399C>T r.(?) p.(Tyr133=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.404C>T r.(?) p.(Ala135Val) Unknown - pathogenic (dominant) g.79478612G>A g.81511586G>A - - ACTG1_000002 submitted through SIB; ExPASy_067815 PubMed: Rivière 2012 - - De novo - - - 0 - DNA SEQ - - BRWS LR06-241 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 SIB - Livia Famiglietti
+/+ 4 c.404C>T r.(?) p.(Ala135Val) Parent #1 - pathogenic g.79478612G>A g.81511586G>A - - ACTG1_000002 - MORL Deafness Variation Database, PubMed: Rivière 2012, PubMed: Verloes 2015 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.404C>T r.(?) p.(Ala135Val) Unknown - pathogenic (dominant) g.79478612G>A g.81511586G>A - - ACTG1_000002 - PubMed: Verloes 2015 ClinVar-SCV000148640 - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS PatA4 PubMed: Verloes 2015 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.414C>T r.(?) p.(Ala138=) Unknown - likely benign g.79478602G>A g.81511576G>A ACTG1(NM_001199954.2):c.414C>T (p.A138=) - ACTG1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.414C>T r.(=) p.(=) Parent #1 - likely benign g.79478602G>A g.81511576G>A - - ACTG1_000049 - MORL Deafness Variation Database, PubMed: Duzkale 2013, PubMed: Richards 2015 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013, PubMed: Richards 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.430G>C r.(?) p.(Ala144Pro) Unknown - likely pathogenic g.79478586C>G g.81511560C>G - - ACTG1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.432C>T r.(=) p.(=) Parent #1 - likely benign g.79478584G>A g.81511558G>A - - ACTG1_000131 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. 4 c.434C>T r.(?) p.(Ser145Phe) Unknown - likely pathogenic g.79478582G>A g.81511556G>A - - ACTG1_000023 - PubMed: Baux 2017, Journal: Baux 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - gene panel deafness S1572 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - 0 - - 1 David Baux
+/. 4 c.464C>T r.(?) p.(Ser155Phe) Unknown - pathogenic (dominant) g.79478552G>A g.81511526G>A - - ACTG1_000003 submitted through SIB; ExPASy_067816 PubMed: Rivière 2012 - - De novo - - - 0 - DNA SEQ - - BRWS LR04-298 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - 1 SIB - Livia Famiglietti
+/+ 4 c.464C>T r.(?) p.(Ser155Phe) Parent #1 - pathogenic g.79478552G>A g.81511526G>A - - ACTG1_000003 - MORL Deafness Variation Database, PubMed: Richards 2008, PubMed: Rivière 2012, PubMed: Baraitser 1988 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.464C>T r.(?) p.(Ser155Phe) Unknown - pathogenic (dominant) g.79478552G>A g.81511526G>A - - ACTG1_000003 - PubMed: Rivière 2012 - - De novo - - - 0 - DNA SEQ - - BRWS LP98-096 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - England - - 0 - - 1 Johan den Dunnen
+/. 4 c.464C>T r.(?) p.(Ser155Phe) Unknown - pathogenic (dominant) g.79478552G>A g.81511526G>A - - ACTG1_000003 parents not available PubMed: Rivière 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BRWS 11-10857 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
-?/. - c.471C>T r.(?) p.(Asp157=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.476T>C r.(?) p.(Val159Ala) Unknown - VUS g.79478540A>G g.81511514A>G - - ACTG1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.485C>T r.(?) p.(Thr162Met) Parent #1 - pathogenic g.79478531G>A g.81511505G>A - - ACTG1_000130 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - 0 - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.485C>T r.(?) p.(Thr162Met) Unknown - VUS g.79478531G>A - - - ACTG1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.498C>T r.(=) p.(=) Parent #1 - likely benign g.79478518G>A g.81511492G>A - - ACTG1_000129 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.507C>T r.(?) p.(Tyr169=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Leu171Phe) Unknown - VUS g.79478505G>A g.81511479G>A - - ACTG1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.515C>G r.(?) p.(Pro172Arg) Unknown - VUS g.79478501G>C g.81511475G>C - - ACTG1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.519C>T r.(=) p.(=) Parent #1 - VUS g.79478497G>A g.81511471G>A - - ACTG1_000128 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Richards 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 4 c.520G>T r.(?) p.(Ala174Ser) Parent #1 - VUS g.79478496C>A g.81511470C>A - - ACTG1_000127 - MORL Deafness Variation Database, PubMed: Richards 2008 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Richards 2008 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 4 c.521C>G r.(?) p.(Ala174Gly) Parent #1 - VUS g.79478495G>C g.81511469G>C - - ACTG1_000126 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.531T>C r.(?) p.(Arg177=) Unknown - likely benign g.79478485A>G g.81511459A>G ACTG1(NM_001199954.2):c.531T>C (p.R177=) - ACTG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.531T>C r.(=) p.(=) Parent #1 - likely benign g.79478485A>G g.81511459A>G - - ACTG1_000046 - MORL Deafness Variation Database, PubMed: Duzkale 2013, PubMed: Richards 2015 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013, PubMed: Richards 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.546C>T r.(?) p.(Gly182=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.547C>T r.(?) p.(Arg183Trp) Unknown - VUS g.79478469G>A - ACTG1(NM_001199954.2):c.547C>T (p.R183W) - ACTG1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - likely pathogenic g.79478468C>T g.81511442C>T - - ACTG1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.559G>C r.(?) p.(Asp187His) Parent #1 - pathogenic g.79478457C>G g.81511431C>G - - ACTG1_000125 - MORL Deafness Variation Database, PubMed: Baek 2012 - - SUMMARY record - - - 0 - DNA ? - - HL - PubMed: Baek 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.564C>T r.(?) p.(Tyr188=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.576C>T r.(=) p.(=) Parent #1 - likely benign g.79478440G>A g.81511414G>A - - ACTG1_000124 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.591C>G r.(?) p.(Gly197=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594C>T r.(?) p.(Tyr198=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
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