Full data view for gene ANKRD1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_014391.2 transcript reference sequence.

269 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     
-?/. _1 c.-1276G>T r.= p.= Maternal (confirmed) - likely benign g.92682060C>A g.90922303C>A - - ANKRD1_000004 - PubMed: Cinquetti 2008 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - TAPVR 11102937-FamPatTAPVR-007 PubMed: Acquati 2000 2-generation family, 2 affected sisters, unaffected non-carrier parents F - Italy - - - - - 2 Johan den Dunnen
-?/. _1 c.-1170T>C r.= p.= Maternal (confirmed) - likely benign g.92681954A>G g.90922197A>G - - ANKRD1_000003 - PubMed: Cinquetti 2008 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - TAPVR 11102937-FamPatTAPVR-007 PubMed: Acquati 2000 2-generation family, 2 affected sisters, unaffected non-carrier parents F - Italy - - - - - 2 Johan den Dunnen
-?/. _1 c.-699_-697del r.= p.= Maternal (confirmed) - likely benign g.92681483_92681485del g.90921726_90921728del - - ANKRD1_000002 - PubMed: Cinquetti 2008 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - TAPVR 11102937-FamPatTAPVR-007 PubMed: Acquati 2000 2-generation family, 2 affected sisters, unaffected non-carrier parents F - Italy - - - - - 2 Johan den Dunnen
-?/. 1 c.-145T>C r.-145u>c p.= Maternal (confirmed) - likely benign g.92680929A>G g.90921172A>G - - ANKRD1_000001 - PubMed: Cinquetti 2008 - rs10881855 Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - TAPVR 11102937-FamPatTAPVR-007 PubMed: Acquati 2000 2-generation family, 2 affected sisters, unaffected non-carrier parents F - Italy - - - - - 2 Johan den Dunnen
-/. 1 c.-145T>C r.(?) p.(=) Unknown - benign g.92680929A>G g.90921172A>G 104T>C - ANKRD1_000001 - PubMed: Duboscq-Bidot 2009 - rs10881855 Germline - - - - - DNA SEQ - - CMD - PubMed: Meyer 2013 - - - - white - - - - 1 Johan den Dunnen
-/. 1 c.-79C>T r.(?) p.(=) Unknown - benign g.92680863G>A g.90921106G>A 170C>T - ANKRD1_000006 - PubMed: Duboscq-Bidot 2009 - - Germline - - - - - DNA SEQ - - CMD - PubMed: Duboscq-Bidot 2009 - - - - white - - - - 1 Johan den Dunnen
-/. 1 c.-79C>T r.(?) p.(=) Unknown - benign g.92680863G>A g.90921106G>A - - ANKRD1_000006 - PubMed: Meyer 2013 - - Unknown - 2/255 cases - - - DNA SEQ - - CMD - PubMed: Meyer 2013 - - - - - - - - - 2 Johan den Dunnen
-/. - c.-17A>G r.(?) p.(=) Unknown - benign g.92680801T>C g.90921044T>C ANKRD1(NM_014391.2):c.-17A>G, ANKRD1(NM_014391.3):c.-17A>G - ANKRD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17A>G r.(?) p.(=) Unknown - likely benign g.92680801T>C g.90921044T>C ANKRD1(NM_014391.2):c.-17A>G, ANKRD1(NM_014391.3):c.-17A>G - ANKRD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17A>G r.(?) p.(=) Unknown - benign g.92680801T>C g.90921044T>C ANKRD1(NM_014391.2):c.-17A>G, ANKRD1(NM_014391.3):c.-17A>G - ANKRD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.(453+1_454-1)[del16] r.(?) p.(=) Unknown - benign g.(92677588_92678621)[del16] - (453+1_457-1)del16 - ANKRD1_000000 - PubMed: Meyer 2013 - - Germline - - - - - DNA SEQ - - CMD - PubMed: Meyer 2013 - - - - - - - - - 1 Johan den Dunnen
-/. 4i c.(453+1_454-1)[del21] r.(?) p.(=) Unknown - benign g.(92677588_92678621)[del21] - (453+1_457-1)del21 - ANKRD1_000000 - PubMed: Meyer 2013 - - Germline - - - - - DNA SEQ - - CMD - PubMed: Meyer 2013 - - - - - - - - - 1 Johan den Dunnen
-/. 4i c.(453+1_454-1)[del26] r.(?) p.(=) Unknown - benign g.(92677588_92678621)[del26] - (453+1_457-1)del26 - ANKRD1_000000 - PubMed: Meyer 2013 - - Germline - - - - - DNA SEQ - - CMD - PubMed: Meyer 2013 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_9_ c.= r.=|[5] p.= Unknown - likely pathogenic g.92812903_qterdelins[NC_000021.8:16656990_qter] - - t(10;21)(q23.31;q11.2) ANKRD1_000000 5-fold increased RNA-expression (not of RPP30/PCGF5), unknown variant PubMed: Cinquetti 2008 - - De novo - 1/6 cases - - - DNA, RNA PCR, RT-PCR, SEQ - - TAPVR 11102937-FamPatTAPVR-007 PubMed: Acquati 2000 2-generation family, 2 affected sisters, unaffected non-carrier parents F - Italy - - - - - 2 Johan den Dunnen
?/. - c.3G>A r.(?) p.? Unknown - VUS g.92680782C>T - ANKRD1(NM_014391.3):c.3G>A (p.M1?) - ANKRD1_001136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3G>C r.(?) p.(Met1?) Unknown - VUS g.92680782C>G g.90921025C>G - - ANKRD1_001135 variant definitively linked to disease Fusco 2042, submitted - - Germline - - - - - DNA SEQ-NG blood - CM Fam47Pat85 Fusco 2042, submitted - M - Italy white - - - - 1 Carmela Fusco
?/. - c.3G>C r.(?) p.? Unknown - VUS g.92680782C>G - ANKRD1(NM_014391.3):c.3G>C (p.M1?) - ANKRD1_001135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3G>T r.(?) p.(Met1?) Unknown - VUS g.92680782C>A g.90921025C>A ANKRD1(NM_014391.2):c.3G>T (p.M1?), ANKRD1(NM_014391.3):c.3G>T (p.M1?) - ANKRD1_001093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3G>T r.(?) p.(Met1?) Unknown - VUS g.92680782C>A g.90921025C>A ANKRD1(NM_014391.2):c.3G>T (p.M1?), ANKRD1(NM_014391.3):c.3G>T (p.M1?) - ANKRD1_001093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27+11T>C r.(=) p.(=) Unknown - benign g.92680747A>G g.90920990A>G ANKRD1(NM_014391.3):c.27+11T>C - ANKRD1_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27+15T>C r.(=) p.(=) Unknown - benign g.92680743A>G g.90920986A>G ANKRD1(NM_014391.3):c.27+15T>C - ANKRD1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28-3T>C r.spl? p.? Unknown - benign g.92680108A>G g.90920351A>G ANKRD1(NM_014391.3):c.28-3T>C - ANKRD1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28-1G>A r.spl? p.? Unknown - VUS g.92680106C>T g.90920349C>T ANKRD1(NM_014391.3):c.28-1G>A - ANKRD1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46G>A r.(?) p.(Gly16Ser) Unknown - likely benign g.92680087C>T g.90920330C>T - - ANKRD1_001091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57G>C r.(?) p.(Glu19Asp) Unknown - likely benign g.92680076C>G g.90920319C>G - - ANKRD1_001103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77A>C r.(?) p.(Glu26Ala) Unknown - VUS g.92680056T>G g.90920299T>G ANKRD1(NM_014391.2):c.77A>C (p.E26A) - ANKRD1_001090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78G>C r.(?) p.(Glu26Asp) Unknown - VUS g.92680055C>G g.90920298C>G - - ANKRD1_001109 - PubMed: Walsh 2017 - - Germline - 1/807 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. 2 c.108T>C r.(?) p.(=) Unknown - benign g.92680025A>G g.90920268A>G - - ANKRD1_000025 - PubMed: Meyer 2013 - rs145211719 Unknown - 1/510 chromosomes - - - DNA SEQ - - CMD - PubMed: Meyer 2013 - M - - - >65y - - - 1 Johan den Dunnen
-?/. - c.108T>C r.(?) p.(Ala36=) Unknown - likely benign g.92680025A>G g.90920268A>G ANKRD1(NM_014391.2):c.108T>C (p.A36=) - ANKRD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108T>C r.(?) p.(Ala36=) Unknown - likely benign g.92680025A>G - ANKRD1(NM_014391.2):c.108T>C (p.A36=) - ANKRD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133C>G r.(?) p.(Leu45Val) Unknown - VUS g.92680000G>C g.90920243G>C - - ANKRD1_001102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148G>C r.(?) p.(Ala50Pro) Unknown - benign g.92679985C>G g.90920228C>G ANKRD1(NM_014391.3):c.148G>C (p.A50P) - ANKRD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148G>C r.(?) p.(Ala50Pro) Unknown - benign g.92679985C>G g.90920228C>G ANKRD1(NM_014391.3):c.148G>C (p.A50P) - ANKRD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148G>C r.(?) p.(Ala50Pro) Unknown - benign g.92679985C>G g.90920228C>G ANKRD1(NM_014391.3):c.148G>C (p.A50P) - ANKRD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150C>G r.(?) p.(Ala50=) Unknown - benign g.92679983G>C g.90920226G>C ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=) - ANKRD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>G r.(?) p.(Ala50=) Unknown - likely benign g.92679983G>C g.90920226G>C ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=) - ANKRD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>G r.(?) p.(Ala50=) Unknown - likely benign g.92679983G>C g.90920226G>C ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=) - ANKRD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150C>G r.(?) p.(Ala50=) Unknown - benign g.92679983G>C g.90920226G>C ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=) - ANKRD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.153C>T r.(?) p.(His51=) Unknown - benign g.92679980G>A g.90920223G>A ANKRD1(NM_014391.3):c.153C>T (p.H51=) - ANKRD1_001101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.154C>G r.(?) p.(Pro52Ala) Parent #1 - pathogenic g.92679979G>C g.90920222G>C 402C>G - ANKRD1_000011 not 600 control chromosomes PubMed: Arimura 2009 - - Unknown - 1/384 cases - - - DNA SEQ - - CMH - PubMed: Arimura 2009 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.154C>G r.(?) p.(Pro52Ala) Unknown - VUS g.92679979G>C g.90920222G>C ANKRD1(NM_014391.3):c.154C>G (p.P52A) - ANKRD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154C>G r.(?) p.(Pro52Ala) Unknown - likely benign g.92679979G>C - - - ANKRD1_000011 - - - rs397517248 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165G>C r.(?) p.(Leu55=) Unknown - benign g.92679968C>G g.90920211C>G ANKRD1(NM_014391.3):c.165G>C (p.L55=) - ANKRD1_001089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.169G>C r.(?) p.(Glu57Gln) Parent #1 - pathogenic g.92679964C>G g.90920207C>G 417G>C - ANKRD1_000007 not in 800 control chromosomes PubMed: Duboscq-Bidot 2009 - - Germline yes 1/73 cases, sporadic - - - DNA SEQ - - CMD - PubMed: Duboscq-Bidot 2009 3-generation family, affected father and unaffected carrier daugther (27y, ECG normal) - - - white - - - - 1 Johan den Dunnen
+/. 2 c.169G>C r.(?) p.Glu57Gln Unknown - NA g.92679964C>G g.90920207C>G - - ANKRD1_000007 expression cloning normal cellular localization, significantly reduced repressor activity PubMed: Duboscq-Bidot 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.175C>T r.(?) p.(Gln59Ter) Unknown - pathogenic g.92679958G>A g.90920201G>A ANKRD1(NM_014391.2):c.175C>T (p.Q59*) - ANKRD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.175C>T r.(?) p.(Gln59*) Unknown - likely benign g.92679958G>A g.90920201G>A 423C>T (Gln59Ter) - ANKRD1_000014 not 600-800 control chromosomes PubMed: Arimura 2009 - - Unknown no 2/384 cases - - - DNA SEQ - - CMH - PubMed: Arimura 2009 - - - - - - - - - 2 Johan den Dunnen
?/. - c.187G>A r.(?) p.(Glu63Lys) Unknown - VUS g.92679946C>T - ANKRD1(NM_014391.3):c.187G>A (p.E63K) - ANKRD1_001123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.196C>A^198A>B r.(=) p.(Arg66=) Unknown - benign g.92679935T>V^92679937G>T - Arg66Arg - ANKRD1_000000 found in control chromosomes (600-800) PubMed: Arimura 2009 - - Unknown - - - - - DNA SEQ - - CMH - PubMed: Arimura 2009 - - - - - - - - - 1 Johan den Dunnen
-/. - c.196C>G r.(?) p.(Arg66Gly) Unknown - benign g.92679937G>C g.90920180G>C ANKRD1(NM_014391.2):c.196C>G (p.R66G), ANKRD1(NM_014391.3):c.196C>G (p.R66G) - ANKRD1_001088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196C>G r.(?) p.(Arg66Gly) Unknown - benign g.92679937G>C g.90920180G>C ANKRD1(NM_014391.2):c.196C>G (p.R66G), ANKRD1(NM_014391.3):c.196C>G (p.R66G) - ANKRD1_001088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197G>A r.(?) p.(Arg66Gln) Unknown - VUS g.92679936C>T g.90920179C>T - - ANKRD1_000008 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 260 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - - - - - 1 Ellika Sahlin
+?/. 2 c.197G>A r.(?) p.(Arg66Gln) Parent #1 - likely pathogenic g.92679936C>T g.90920179C>T 445G>A - ANKRD1_000008 not in 800 control chromosomes PubMed: Duboscq-Bidot 2009 - rs150797476 Germline - 1/73 cases, sporadic - - - DNA SEQ - - CMD - PubMed: Duboscq-Bidot 2009 2-generation family, 1 affected, 4 sudden deaths M - - white - - - - 1 Johan den Dunnen
+?/. 2 c.197G>A r.(?) p.Arg66Gln Unknown - NA g.92679936C>T g.90920179C>T - - ANKRD1_000008 expression cloning normal cellular localization, significantly reduced repressor activity PubMed: Duboscq-Bidot 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.197G>A r.(?) p.(Arg66Gln) Unknown - benign g.92679936C>T g.90920179C>T ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q) - ANKRD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197G>A r.(?) p.(Arg66Gln) Unknown - likely benign g.92679936C>T g.90920179C>T ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q) - ANKRD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.197G>A r.(?) p.(Arg66Gln) Unknown - benign g.92679936C>T g.90920179C>T ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q) - ANKRD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197G>A r.(?) p.(Arg66Gln) Unknown - likely benign g.92679936C>T - ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q) - ANKRD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207+5G>C r.spl? p.? Unknown - likely benign g.92679921C>G g.90920164C>G - - ANKRD1_001100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.208-16C>T r.(=) p.(=) Unknown - benign g.92679041G>A g.90919284G>A ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T - ANKRD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-16C>T r.(=) p.(=) Unknown - likely benign g.92679041G>A g.90919284G>A ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T - ANKRD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.208-16C>T r.(=) p.(=) Unknown - benign g.92679041G>A g.90919284G>A ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T - ANKRD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.208-16C>T r.(?) p.(=) Unknown - benign g.92679041G>A g.90919284G>A IVS2-16C>T - ANKRD1_000015 found in control chromosomes (600-800) PubMed: Arimura 2009 - - Unknown - - - - - DNA SEQ - - CMH - PubMed: Arimura 2009 - - - - - - - - - 1 Johan den Dunnen
-/. - c.208-16C>T r.(=) p.(=) Unknown - benign g.92679041G>A g.90919284G>A ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T - ANKRD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.208-15G>A r.(=) p.(=) Unknown - benign g.92679040C>T g.90919283C>T ANKRD1(NM_014391.2):c.208-15G>A, ANKRD1(NM_014391.3):c.208-15G>A - ANKRD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.208-15G>A r.(=) p.(=) Unknown - benign g.92679040C>T g.90919283C>T ANKRD1(NM_014391.2):c.208-15G>A, ANKRD1(NM_014391.3):c.208-15G>A - ANKRD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208-9_208-6del r.(=) p.(=) Unknown - VUS g.92679034_92679037del g.90919277_90919280del ANKRD1(NM_014391.2):c.208-9_208-6delCTTT - ANKRD1_001087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.222dup r.(?) p.(Leu75ThrfsTer8) Unknown - VUS g.92679016dup g.90919259dup ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8) - ANKRD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.222dup r.(?) p.(Leu75ThrfsTer8) Unknown - VUS g.92679016dup g.90919259dup ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8) - ANKRD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.222dup r.(?) p.(Leu75ThrfsTer8) Unknown - VUS g.92679016dup g.90919259dup ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8) - ANKRD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.222dup r.(?) p.(Leu75ThrfsTer8) Unknown - VUS g.92679016dup - ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8) - ANKRD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.234A>T r.(?) p.(Arg78Ser) Unknown - VUS g.92678999T>A g.90919242T>A - - ANKRD1_001086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256G>C r.(?) p.(Asp86His) Unknown - likely benign g.92678977C>G g.90919220C>G ANKRD1(NM_014391.2):c.256G>C (p.D86H), ANKRD1(NM_014391.3):c.256G>C (p.D86H) - ANKRD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256G>C r.(?) p.(Asp86His) Unknown - VUS g.92678977C>G g.90919220C>G ANKRD1(NM_014391.2):c.256G>C (p.D86H), ANKRD1(NM_014391.3):c.256G>C (p.D86H) - ANKRD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256G>C r.(?) p.(Asp86His) Unknown - likely benign g.92678977C>G g.90919220C>G ANKRD1(NM_014391.2):c.256G>C (p.D86H), ANKRD1(NM_014391.3):c.256G>C (p.D86H) - ANKRD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.294dup r.(?) p.(Tyr99IlefsTer5) Unknown - VUS g.92678944dup g.90919187dup ANKRD1(NM_014391.3):c.288delGinsGA (p.Y99Ifs*5), ANKRD1(NM_014391.3):c.294dupA (p.Y99Ifs*5) - ANKRD1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.294dup r.(?) p.(Tyr99IlefsTer5) Unknown - VUS g.92678944dup - ANKRD1(NM_014391.3):c.288delGinsGA (p.Y99Ifs*5), ANKRD1(NM_014391.3):c.294dupA (p.Y99Ifs*5) - ANKRD1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.300G>C r.(?) p.(Arg100Ser) Unknown - VUS g.92678933C>G - ANKRD1(NM_014391.3):c.300G>C (p.R100S) - ANKRD1_001132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.313C>T r.(?) p.(Pro105Ser) Parent #1 - pathogenic g.92678920G>A g.90919163G>A - - ANKRD1_000020 not in 360 control chromosomes PubMed: Moulik 2009 - rs148189486 Germline yes 1/208 cases - - - DNA SEQ - - CMD - PubMed: Moulik 2009 4-generation family, 2 affecteds M - United Kingdom (Great Britain) white >15y - - - 2 Johan den Dunnen
+/. 3 c.313C>T r.(?) p.(Pro105Ser) Parent #1 - pathogenic g.92678920G>A g.90919163G>A - - ANKRD1_000020 not in 360 control chromosomes PubMed: Moulik 2009 - rs148189486 Germline no 1/208 cases - - - DNA SEQ - - CMD - PubMed: Moulik 2009 4-generation family, 1 affected M - United Kingdom (Great Britain) white >52y - - - 1 Johan den Dunnen
+/. 3 c.313C>T r.(?) p.Pro105Ser Unknown - NA g.92678920G>A g.90919163G>A - - ANKRD1_000020 expression cloning normal cellular localization; differential stretch-induced gene expression PubMed: Moulik 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313C>T r.(?) p.(Pro105Ser) Unknown - VUS g.92678920G>A g.90919163G>A ANKRD1(NM_014391.2):c.313C>T (p.P105S), ANKRD1(NM_014391.3):c.313C>T (p.P105S) - ANKRD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313C>T r.(?) p.(Pro105Ser) Unknown - VUS g.92678920G>A g.90919163G>A ANKRD1(NM_014391.2):c.313C>T (p.P105S), ANKRD1(NM_014391.3):c.313C>T (p.P105S) - ANKRD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.313C>T r.(?) p.(Pro105Ser) Unknown - likely pathogenic g.92678920G>A g.90919163G>A ANKRD1(NM_014391.2):c.313C>T (p.P105S), ANKRD1(NM_014391.3):c.313C>T (p.P105S) - ANKRD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.319G>T r.(?) p.(Val107Leu) Parent #1 - pathogenic g.92678914C>A g.90919157C>A - - ANKRD1_000021 not in 360 control chromosomes PubMed: Moulik 2009 - rs114435632 Germline no 1/208 cases - - - DNA SEQ - - CMD - PubMed: Moulik 2009 - M - United Kingdom (Great Britain) white >68y - - - 1 Johan den Dunnen
+/. 3 c.319G>T r.(?) p.Val107Leu Unknown - NA g.92678914C>A g.90919157C>A - - ANKRD1_000021 expression cloning normal cellular localization, significantly reduced repressor activity; differential stretch-induced gene expression PubMed: Moulik 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.319G>T r.(?) p.(Val107Leu) Unknown - benign g.92678914C>A g.90919157C>A ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L) - ANKRD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.319G>T r.(?) p.(Val107Leu) Unknown - likely benign g.92678914C>A g.90919157C>A ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L) - ANKRD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.319G>T r.(?) p.(Val107Leu) Unknown - likely benign g.92678914C>A g.90919157C>A ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L) - ANKRD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.319G>T r.(?) p.(Val107Leu) Unknown - likely benign g.92678914C>A - ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L) - ANKRD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345+17del r.(=) p.(=) Unknown - benign g.92678879del g.90919122del ANKRD1(NM_014391.3):c.345+17delT - ANKRD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345+17dup r.(=) p.(=) Unknown - benign g.92678879dup - ANKRD1(NM_014391.3):c.345+17dupT - ANKRD1_001119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345+17T>C r.(=) p.(=) Unknown - benign g.92678871A>G g.90919114A>G ANKRD1(NM_014391.2):c.345+17T>C - ANKRD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.346-36T>C r.(?) p.(=) Unknown - benign g.92678765A>G g.90919008A>G 2268 rs56177217 - ANKRD1_000023 - PubMed: Meyer 2013 - rs56177217 Unknown - - - - - DNA SEQ - - CMD - PubMed: Meyer 2013 - - - - - - - - - 1 Johan den Dunnen
-/. - c.346-36T>C r.(=) p.(=) Unknown - benign g.92678765A>G g.90919008A>G - - ANKRD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346-35_346-12del r.(=) p.(=) Unknown - likely benign g.92678744_92678767del g.90918987_90919010del ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-35_346-12delATATATATATATATATTTATTTAT - ANKRD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.346-35_346-12del r.(=) p.(=) Unknown - benign g.92678744_92678767del g.90918987_90919010del ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-35_346-12delATATATATATATATATTTATTTAT - ANKRD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346-35_346-12del r.(=) p.(=) Unknown - likely benign g.92678744_92678767del g.90918987_90919010del ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-35_346-12delATATATATATATATATTTATTTAT - ANKRD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346-33_346-12del r.(=) p.(=) Unknown - likely benign g.92678744_92678765del g.90918987_90919008del ANKRD1(NM_014391.2):c.346-33_346-12delATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-33_346-12delATATATATATATATTTATTTAT - ANKRD1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346-33_346-12del r.(=) p.(=) Unknown - likely benign g.92678744_92678765del - ANKRD1(NM_014391.2):c.346-33_346-12delATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-33_346-12delATATATATATATATTTATTTAT - ANKRD1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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