Full data view for gene ABCC9

Information The variants shown are described using the NM_005691.2 transcript reference sequence.

409 entries on 5 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.-11T>C r.(?) p.(=) Unknown - benign g.22089619A>G g.21936685A>G ABCC9(NM_020297.2):c.-11T>C - ABCC9_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>T r.(?) p.(Asn16=) Unknown - likely benign g.22089561G>A g.21936627G>A ABCC9(NM_020297.2):c.48C>T (p.N16=) - ABCC9_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>T r.(?) p.(Asn16=) Unknown - likely benign g.22089561G>A g.21936627G>A ABCC9(NM_020297.2):c.48C>T (p.N16=) - ABCC9_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>T r.(?) p.(Asn16=) Unknown - likely benign g.22089561G>A g.21936627G>A ABCC9(NM_020297.2):c.48C>T (p.N16=) - ABCC9_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75T>C r.(?) p.(Phe25=) Unknown - benign g.22089534A>G g.21936600A>G ABCC9(NM_020297.2):c.75T>C (p.F25=) - ABCC9_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.96C>T r.(?) p.(Val32=) Unknown - benign g.22089513G>A g.21936579G>A ABCC9(NM_020297.2):c.96C>T (p.V32=) - ABCC9_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.102T>C r.(?) p.(His34=) Unknown - benign g.22089507A>G - ABCC9(NM_020297.2):c.102T>C (p.H34=) - ABCC9_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142+15A>G r.(=) p.(=) Unknown - likely benign g.22089452T>C g.21936518T>C ABCC9(NM_020297.2):c.142+15A>G - ABCC9_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.142+15dup r.(=) p.(=) Unknown - likely benign g.22089452dup g.21936518dup ABCC9(NM_020297.2):c.142+14delTinsTA, ABCC9(NM_020297.2):c.142+15dupA - ABCC9_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.142+15dup r.(=) p.(=) Unknown - benign g.22089452dup g.21936518dup ABCC9(NM_020297.2):c.142+14delTinsTA, ABCC9(NM_020297.2):c.142+15dupA - ABCC9_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142+15dup r.(=) p.(=) Unknown - likely benign g.22089452dup g.21936518dup ABCC9(NM_020297.2):c.142+14delTinsTA, ABCC9(NM_020297.2):c.142+15dupA - ABCC9_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142+19T>A r.(=) p.(=) Unknown - likely benign g.22089448A>T g.21936514A>T ABCC9(NM_020297.2):c.142+19T>A - ABCC9_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.142+19T>A r.(=) p.(=) Unknown - benign g.22089448A>T g.21936514A>T ABCC9(NM_020297.2):c.142+19T>A - ABCC9_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.169C>T r.(?) p.(Gln57*) Unknown - likely pathogenic g.22086831G>A g.21933897G>A - - ABCC9_000305 - PubMed: Walsh 2017 - - Germline - 1/590 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.178C>T r.(?) p.(His60Tyr) Unknown - pathogenic g.22086822G>A g.21933888G>A - - ABCC9_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.201G>A r.(?) p.(Pro67=) Unknown - VUS g.22086799C>T g.21933865C>T ABCC9(NM_020297.2):c.201G>A (p.P67=) - ABCC9_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.256G>A r.(?) p.(Glu86Lys) Unknown - VUS g.22086744C>T g.21933810C>T ABCC9(NM_020297.2):c.256G>A (p.E86K) - ABCC9_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285-16G>A r.(=) p.(=) Unknown - benign g.22079013C>T g.21926079C>T ABCC9(NM_020297.2):c.285-16G>A - ABCC9_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.285-16G>A r.(=) p.(=) Unknown - likely benign g.22079013C>T g.21926079C>T ABCC9(NM_020297.2):c.285-16G>A - ABCC9_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.285-16G>A r.(=) p.(=) Unknown - benign g.22079013C>T g.21926079C>T ABCC9(NM_020297.2):c.285-16G>A - ABCC9_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290G>A r.(?) p.(Arg97Gln) Unknown - likely benign g.22078992C>T g.21926058C>T ABCC9(NM_005691.2):c.290G>A (p.(Arg97Gln)) - ABCC9_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.305T>C r.(?) p.(Leu102Pro) Unknown - VUS g.22078977A>G g.21926043A>G ABCC9(NM_020297.2):c.305T>C (p.L102P) - ABCC9_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.305T>C r.(?) p.(Leu102Pro) Unknown - VUS g.22078977A>G g.21926043A>G ABCC9(NM_020297.2):c.305T>C (p.L102P) - ABCC9_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.372T>C r.(?) p.(Asn124=) Unknown - likely benign g.22078910A>G g.21925976A>G ABCC9(NM_020297.2):c.372T>C (p.N124=) - ABCC9_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.372T>C r.(?) p.(Asn124=) Unknown - benign g.22078910A>G g.21925976A>G ABCC9(NM_020297.2):c.372T>C (p.N124=) - ABCC9_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.372T>C r.(?) p.(Asn124=) Unknown - likely benign g.22078910A>G g.21925976A>G ABCC9(NM_020297.2):c.372T>C (p.N124=) - ABCC9_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402T>C r.(?) p.(Leu134=) Unknown - likely benign g.22078880A>G g.21925946A>G ABCC9(NM_020297.2):c.402T>C (p.L134=) - ABCC9_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.407-14C>A r.(=) p.(=) Unknown - benign g.22070051G>T g.21917117G>T ABCC9(NM_020297.2):c.407-14C>A - ABCC9_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.407-14C>A r.(=) p.(=) Unknown - benign g.22070051G>T g.21917117G>T ABCC9(NM_020297.2):c.407-14C>A - ABCC9_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.407-14C>A r.(=) p.(=) Unknown - likely benign g.22070051G>T g.21917117G>T ABCC9(NM_020297.2):c.407-14C>A - ABCC9_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.407-14C>A r.(=) p.(=) Unknown - benign g.22070051G>T g.21917117G>T ABCC9(NM_020297.2):c.407-14C>A - ABCC9_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.407-14C>A r.(=) p.(=) Unknown - benign g.22070051G>T g.21917117G>T ABCC9(NM_020297.2):c.407-14C>A - ABCC9_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.407-13T>C r.(=) p.(=) Unknown - likely benign g.22070050A>G g.21917116A>G ABCC9(NM_020297.2):c.407-13T>C - ABCC9_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.411G>T r.(?) p.(Leu137=) Unknown - likely benign g.22070033C>A g.21917099C>A ABCC9(NM_020297.2):c.411G>T (p.L137=) - ABCC9_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.411G>T r.(?) p.(Leu137=) Unknown - likely benign g.22070033C>A g.21917099C>A ABCC9(NM_020297.2):c.411G>T (p.L137=) - ABCC9_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.574-5C>A r.spl? p.? Unknown - benign g.22068849G>T g.21915915G>T ABCC9(NM_020297.2):c.574-5C>A - ABCC9_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.574-5C>A r.spl? p.? Unknown - benign g.22068849G>T g.21915915G>T ABCC9(NM_020297.2):c.574-5C>A - ABCC9_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.574-5C>A r.spl? p.? Unknown - benign g.22068849G>T g.21915915G>T ABCC9(NM_020297.2):c.574-5C>A - ABCC9_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.574-5C>A r.spl? p.? Unknown - benign g.22068849G>T g.21915915G>T ABCC9(NM_020297.2):c.574-5C>A - ABCC9_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.574-5C>A r.spl? p.? Unknown - benign g.22068849G>T g.21915915G>T ABCC9(NM_020297.2):c.574-5C>A - ABCC9_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.674A>C r.(?) p.(Lys225Thr) Unknown - VUS g.22068744T>G - ABCC9(NM_005691.2):c.674A>C (p.(Lys225Thr)) - ABCC9_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.755C>T r.(?) p.(Pro252Leu) Unknown - likely pathogenic g.22068663G>A g.21915729G>A - - ABCC9_000289 - - - - De novo - - - 0 - DNA SEQ-NG Blood - Cantu - - - M - - - - 0 - - 1 Fanny Kortüm
+?/. - c.776C>A r.(?) p.(Thr259Lys) Unknown - likely pathogenic g.22068642G>T g.21915708G>T - - ABCC9_000288 - - - - De novo - - - 0 - DNA SEQ-NG Blood - Cantu - - - F - Italy - - 0 - - 1 Fanny Kortüm
-/. - c.789C>T r.(?) p.(Cys263=) Unknown - benign g.22068629G>A g.21915695G>A ABCC9(NM_020297.2):c.789C>T (p.C263=) - ABCC9_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.789C>T r.(?) p.(Cys263=) Unknown - benign g.22068629G>A g.21915695G>A ABCC9(NM_020297.2):c.789C>T (p.C263=) - ABCC9_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.789C>T r.(?) p.(Cys263=) Unknown - benign g.22068629G>A g.21915695G>A ABCC9(NM_020297.2):c.789C>T (p.C263=) - ABCC9_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798T>C r.(?) p.(Asp266=) Unknown - likely benign g.22068620A>G g.21915686A>G ABCC9(NM_020297.2):c.798T>C (p.D266=) - ABCC9_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.816+11G>A r.(=) p.(=) Unknown - likely benign g.22068591C>T g.21915657C>T ABCC9(NM_020297.2):c.816+11G>A - ABCC9_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.817-18del r.(=) p.(=) Unknown - benign g.22066027del g.21913093del ABCC9(NM_020297.2):c.817-18delT - ABCC9_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.817-18del r.(=) p.(=) Unknown - likely benign g.22066027del g.21913093del ABCC9(NM_020297.2):c.817-18delT - ABCC9_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.817-18dup r.(=) p.(=) Unknown - benign g.22066027dup g.21913093dup ABCC9(NM_020297.2):c.817-18dupT - ABCC9_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.817-18dup r.(=) p.(=) Unknown - benign g.22066027dup g.21913093dup ABCC9(NM_020297.2):c.817-18dupT - ABCC9_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.817-18dup r.(=) p.(=) Unknown - benign g.22066027dup g.21913093dup ABCC9(NM_020297.2):c.817-18dupT - ABCC9_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.817-17C>T r.(=) p.(=) Unknown - benign g.22066017G>A g.21913083G>A ABCC9(NM_020297.2):c.817-17C>T - ABCC9_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.817-11T>C r.(=) p.(=) Unknown - benign g.22066011A>G g.21913077A>G ABCC9(NM_020297.2):c.817-11T>C - ABCC9_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.817-7del r.(=) p.(=) Unknown - benign g.22066016del g.21913082del ABCC9(NM_020297.2):c.817-7delT - ABCC9_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.817-7del r.(=) p.(=) Unknown - likely benign g.22066016del g.21913082del ABCC9(NM_020297.2):c.817-7delT - ABCC9_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.817-7del r.(=) p.(=) Unknown - benign g.22066016del g.21913082del ABCC9(NM_020297.2):c.817-7delT - ABCC9_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.817-7del r.(=) p.(=) Unknown - benign g.22066016del g.21913082del ABCC9(NM_020297.2):c.817-7delT - ABCC9_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.817-7dup r.(=) p.(=) Unknown - benign g.22066016dup g.21913082dup ABCC9(NM_020297.2):c.817-7dupT - ABCC9_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.817-6C>A r.(=) p.(=) Unknown - likely benign g.22066006G>T g.21913072G>T ABCC9(NM_020297.2):c.817-6C>A - ABCC9_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.817-3C>T r.spl? p.? Unknown - likely benign g.22066003G>A g.21913069G>A ABCC9(NM_020297.2):c.817-3C>T - ABCC9_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.822dup r.(?) p.(Val275SerfsTer26) Unknown - VUS g.22066000dup g.21913066dup ABCC9(NM_020297.2):c.822dupA (p.V275Sfs*26) - ABCC9_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842G>A r.(?) p.(Arg281Gln) Unknown - likely benign g.22065975C>T g.21913041C>T ABCC9(NM_005691.2):c.842G>A (p.R281Q), ABCC9(NM_020297.2):c.842G>A (p.R281Q) - ABCC9_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.842G>A r.(?) p.(Arg281Gln) Unknown - likely benign g.22065975C>T g.21913041C>T ABCC9(NM_005691.2):c.842G>A (p.R281Q), ABCC9(NM_020297.2):c.842G>A (p.R281Q) - ABCC9_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.842G>A r.(?) p.(Arg281Gln) Unknown - likely benign g.22065975C>T g.21913041C>T ABCC9(NM_005691.2):c.842G>A (p.R281Q), ABCC9(NM_020297.2):c.842G>A (p.R281Q) - ABCC9_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.924T>C r.(?) p.(Asp308=) Unknown - benign g.22065893A>G g.21912959A>G ABCC9(NM_020297.2):c.924T>C (p.D308=) - ABCC9_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.924T>C r.(?) p.(Asp308=) Unknown - likely benign g.22065893A>G g.21912959A>G ABCC9(NM_020297.2):c.924T>C (p.D308=) - ABCC9_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.924T>C r.(?) p.(Asp308=) Unknown - benign g.22065893A>G g.21912959A>G ABCC9(NM_020297.2):c.924T>C (p.D308=) - ABCC9_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957T>C r.(?) p.(Ser319=) Unknown - likely benign g.22065860A>G g.21912926A>G ABCC9(NM_020297.2):c.957T>C (p.S319=) - ABCC9_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.989A>G r.(?) p.(Asn330Ser) Unknown - likely benign g.22065828T>C g.21912894T>C ABCC9(NM_020297.2):c.989A>G (p.N330S) - ABCC9_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1056C>T r.(?) p.(Tyr352=) Unknown - benign g.22063868G>A g.21910934G>A ABCC9(NM_020297.2):c.1056C>T (p.Y352=) - ABCC9_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1056C>T r.(?) p.(Tyr352=) Unknown - likely benign g.22063868G>A g.21910934G>A ABCC9(NM_020297.2):c.1056C>T (p.Y352=) - ABCC9_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1092G>T r.(?) p.(Leu364=) Unknown - likely benign g.22063832C>A g.21910898C>A ABCC9(NM_020297.2):c.1092G>T (p.L364=) - ABCC9_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1092G>T r.(?) p.(Leu364=) Unknown - VUS g.22063832C>A g.21910898C>A ABCC9(NM_020297.2):c.1092G>T (p.L364=) - ABCC9_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137T>C r.(?) p.(Thr379=) Unknown - likely benign g.22063787A>G g.21910853A>G ABCC9(NM_020297.2):c.1137T>C (p.T379=) - ABCC9_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137T>C r.(?) p.(Thr379=) Unknown - likely benign g.22063787A>G - ABCC9(NM_020297.2):c.1137T>C (p.T379=) - ABCC9_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142T>A r.(?) p.(Ile381Asn) Unknown - VUS g.22063782A>T g.21910848A>T - - ABCC9_000304 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.1164+11A>G r.(=) p.(=) Unknown - benign g.22063749T>C g.21910815T>C ABCC9(NM_020297.2):c.1164+11A>G - ABCC9_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1164+11A>G r.(=) p.(=) Unknown - benign g.22063749T>C g.21910815T>C ABCC9(NM_020297.2):c.1164+11A>G - ABCC9_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1164+11A>G r.(=) p.(=) Unknown - benign g.22063749T>C g.21910815T>C ABCC9(NM_020297.2):c.1164+11A>G - ABCC9_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1164+11A>G r.(=) p.(=) Unknown - benign g.22063749T>C g.21910815T>C ABCC9(NM_020297.2):c.1164+11A>G - ABCC9_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1164+11A>G r.(=) p.(=) Unknown - benign g.22063749T>C g.21910815T>C ABCC9(NM_020297.2):c.1164+11A>G - ABCC9_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1164+23C>A r.(=) p.(=) Unknown - benign g.22063737G>T - ABCC9(NM_020297.2):c.1164+23C>A - ABCC9_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1164+23C>A r.(=) p.(=) Unknown - benign g.22063737G>T - ABCC9(NM_020297.2):c.1164+23C>A - ABCC9_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1165-8_1165-6del r.(=) p.(=) Unknown - benign g.22063263_22063265del g.21910329_21910331del ABCC9(NM_020297.2):c.1165-8_1165-6delTTT - ABCC9_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165-7_1165-6del r.(=) p.(=) Unknown - likely benign g.22063264_22063265del g.21910330_21910331del ABCC9(NM_020297.2):c.1165-7_1165-6delTT - ABCC9_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1165-7_1165-6del r.(=) p.(=) Unknown - benign g.22063264_22063265del g.21910330_21910331del ABCC9(NM_020297.2):c.1165-7_1165-6delTT - ABCC9_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1165-7_1165-6del r.(=) p.(=) Unknown - benign g.22063264_22063265del g.21910330_21910331del ABCC9(NM_020297.2):c.1165-7_1165-6delTT - ABCC9_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6del r.(=) p.(=) Unknown - benign g.22063265del g.21910331del ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT - ABCC9_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6del r.(=) p.(=) Unknown - benign g.22063265del g.21910331del ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT - ABCC9_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6del r.(=) p.(=) Unknown - benign g.22063265del g.21910331del ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT - ABCC9_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6del r.(=) p.(=) Unknown - benign g.22063265del g.21910331del ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT - ABCC9_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165-6del r.(=) p.(=) Unknown - likely benign g.22063265del g.21910331del ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT - ABCC9_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6dup r.(=) p.(=) Unknown - benign g.22063265dup g.21910331dup ABCC9(NM_005691.2):c.1165-6dup (p.(=)), ABCC9(NM_020297.2):c.1165-20_1165-19insT, ABCC9(NM_020297.2):c.1165-6dupT - ABCC9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6dup r.(=) p.(=) Unknown - benign g.22063265dup g.21910331dup ABCC9(NM_005691.2):c.1165-6dup (p.(=)), ABCC9(NM_020297.2):c.1165-20_1165-19insT, ABCC9(NM_020297.2):c.1165-6dupT - ABCC9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6dup r.(=) p.(=) Unknown - benign g.22063265dup g.21910331dup ABCC9(NM_005691.2):c.1165-6dup (p.(=)), ABCC9(NM_020297.2):c.1165-20_1165-19insT, ABCC9(NM_020297.2):c.1165-6dupT - ABCC9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6dup r.(=) p.(=) Unknown - benign g.22063265dup g.21910331dup ABCC9(NM_005691.2):c.1165-6dup (p.(=)), ABCC9(NM_020297.2):c.1165-20_1165-19insT, ABCC9(NM_020297.2):c.1165-6dupT - ABCC9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165-6dup r.(=) p.(=) Unknown - likely benign g.22063265dup g.21910331dup ABCC9(NM_005691.2):c.1165-6dup (p.(=)), ABCC9(NM_020297.2):c.1165-20_1165-19insT, ABCC9(NM_020297.2):c.1165-6dupT - ABCC9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1165-6dup r.(=) p.(=) Unknown - benign g.22063265dup g.21910331dup ABCC9(NM_005691.2):c.1165-6dup (p.(=)), ABCC9(NM_020297.2):c.1165-20_1165-19insT, ABCC9(NM_020297.2):c.1165-6dupT - ABCC9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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