Unique variants in the ABCC9 gene

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

231 entries on 3 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.-11T>C r.(?) p.(=) - benign g.22089619A>G g.21936685A>G ABCC9(NM_020297.2):c.-11T>C - ABCC9_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 3 - c.48C>T r.(?) p.(Asn16=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.75T>C r.(?) p.(Phe25=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.96C>T r.(?) p.(Val32=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.102T>C r.(?) p.(His34=) - benign g.22089507A>G - ABCC9(NM_020297.2):c.102T>C (p.H34=) - ABCC9_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.142+15A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.142+15dup r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/. 2 - c.142+19T>A r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 1 - c.169C>T r.(?) p.(Gln57*) - likely pathogenic g.22086831G>A g.21933897G>A - - ABCC9_000305 - PubMed: Walsh 2017 - - Germline - 1/590 cases - - - Johan den Dunnen
+/. 1 - c.178C>T r.(?) p.(His60Tyr) - pathogenic g.22086822G>A g.21933888G>A - - ABCC9_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.201G>A r.(?) p.(Pro67=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.256G>A r.(?) p.(Glu86Lys) - 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 - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.285-16G>A r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.290G>A r.(?) p.(Arg97Gln) - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.305T>C r.(?) p.(Leu102Pro) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 3 - c.372T>C r.(?) p.(Asn124=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.402T>C r.(?) p.(Leu134=) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 5 - c.407-14C>A r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.407-13T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.411G>T r.(?) p.(Leu137=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 5 - c.574-5C>A r.spl? p.? - benign g.22068849G>T g.21915915G>T ABCC9(NM_020297.2):c.574-5C>A - ABCC9_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.674A>C r.(?) p.(Lys225Thr) - VUS g.22068744T>G - ABCC9(NM_005691.2):c.674A>C (p.(Lys225Thr)) - ABCC9_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.755C>T r.(?) p.(Pro252Leu) - likely pathogenic g.22068663G>A g.21915729G>A - - ABCC9_000289 - - - - De novo - - - - - Fanny Kortüm
+?/. 1 - c.776C>A r.(?) p.(Thr259Lys) - likely pathogenic g.22068642G>T g.21915708G>T - - ABCC9_000288 - - - - De novo - - - - - Fanny Kortüm
-/. 3 - c.789C>T r.(?) p.(Cys263=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.798T>C r.(?) p.(Asp266=) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.816+11G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.817-18del r.(=) p.(=) - benign, likely benign g.22066027del g.21913093del ABCC9(NM_020297.2):c.817-18delT - ABCC9_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 3 - c.817-18dup r.(=) p.(=) - benign g.22066027dup g.21913093dup ABCC9(NM_020297.2):c.817-18dupT - ABCC9_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.817-17C>T r.(=) p.(=) - benign g.22066017G>A g.21913083G>A ABCC9(NM_020297.2):c.817-17C>T - ABCC9_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.817-11T>C r.(=) p.(=) - benign g.22066011A>G g.21913077A>G ABCC9(NM_020297.2):c.817-11T>C - ABCC9_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 4 - c.817-7del r.(=) p.(=) - benign, likely benign g.22066016del g.21913082del ABCC9(NM_020297.2):c.817-7delT - ABCC9_000148, ABCC9_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.817-7dup r.(=) p.(=) - benign g.22066016dup g.21913082dup ABCC9(NM_020297.2):c.817-7dupT - ABCC9_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.817-6C>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.817-3C>T r.spl? p.? - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.822dup r.(?) p.(Val275SerfsTer26) - VUS g.22066000dup g.21913066dup ABCC9(NM_020297.2):c.822dupA (p.V275Sfs*26) - ABCC9_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 - c.842G>A r.(?) p.(Arg281Gln) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 3 - c.924T>C r.(?) p.(Asp308=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.957T>C r.(?) p.(Ser319=) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.989A>G r.(?) p.(Asn330Ser) - 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 - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.1056C>T r.(?) p.(Tyr352=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/., ?/. 2 - c.1092G>T r.(?) p.(Leu364=) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 2 - c.1137T>C r.(?) p.(Thr379=) - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.1142T>A r.(?) p.(Ile381Asn) - VUS g.22063782A>T g.21910848A>T - - ABCC9_000304 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - - - Johan den Dunnen
-/. 5 - c.1164+11A>G r.(=) p.(=) - benign g.22063749T>C g.21910815T>C ABCC9(NM_020297.2):c.1164+11A>G - ABCC9_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 2 - c.1164+23C>A r.(=) p.(=) - benign g.22063737G>T - ABCC9(NM_020297.2):c.1164+23C>A - ABCC9_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.1165-8_1165-6del r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1165-7_1165-6del r.(=) p.(=) - benign, likely benign g.22063264_22063265del g.21910330_21910331del ABCC9(NM_020297.2):c.1165-7_1165-6delTT - ABCC9_000135, ABCC9_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 5 - c.1165-6del r.(=) p.(=) - benign, likely benign g.22063265del g.21910331del ABCC9(NM_005691.2):c.1165-6del (p.(=)), ABCC9(NM_020297.2):c.1165-6delT - ABCC9_000133, ABCC9_000134, ABCC9_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 6 - c.1165-6dup r.(=) p.(=) - benign, likely benign g.22063265dup g.21910331dup 1 more item - ABCC9_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 3 - c.1165-5G>T r.spl? p.? - likely benign g.22063251C>A g.21910317C>A ABCC9(NM_005691.2):c.1165-5delinsT (p.?), ABCC9(NM_020297.2):c.1165-5G>T - ABCC9_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1165-4G>T r.spl? p.? - likely benign g.22063250C>A g.21910316C>A ABCC9(NM_005691.2):c.1165-4G>T (p.?) - ABCC9_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1165-2A>T r.spl? p.? - likely benign g.22063248T>A g.21910314T>A ABCC9(NM_005691.2):c.1165-2A>T (p.?) - ABCC9_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1165-1G>T r.spl? p.? - likely benign g.22063247C>A g.21910313C>A ABCC9(NM_005691.2):c.1165-1G>T (p.?) - ABCC9_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1186C>A r.(?) p.(Leu396Ile) - VUS g.22063225G>T g.21910291G>T - - ABCC9_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1200G>A r.(?) p.(Thr400=) - likely benign g.22063211C>T - ABCC9(NM_020297.2):c.1200G>A (p.T400=) - ABCC9_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 8 c.1223T>A r.(?) p.(Met408Arg) - VUS g.22063188A>T - - - ABCC9_000065 - - - - Germline - - - - - Sofie Lindgren Christiansen
?/. 1 - c.1256T>C r.(?) p.(Ile419Thr) - VUS g.22063155A>G g.21910221A>G ABCC9(NM_020297.2):c.1256T>C (p.I419T) - ABCC9_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1278G>T r.(?) p.(Trp426Cys) - VUS g.22063133C>A g.21910199C>A - - ABCC9_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1290G>T r.(?) p.(Leu430=) - likely benign g.22063121C>A g.21910187C>A ABCC9(NM_020297.2):c.1290G>T (p.L430=) - ABCC9_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 5 - c.1296T>C r.(?) p.(Pro432=) - benign g.22063115A>G g.21910181A>G ABCC9(NM_020297.2):c.1296T>C (p.P432=) - ABCC9_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 4 - c.1320+1G>A r.1165_1320del, r.spl, r.spl? p.?, p.Ala389_Gln440del - pathogenic, pathogenic (recessive) g.22063090C>T g.21910156C>T - - ABCC9_000084 - PubMed: Sahlin 2019, Journal: Sahlin 2019, PubMed: Smeland 2019 - - Germline ?, yes - - - - Johan den Dunnen, Sanne Savelberg, Ellika Sahlin
+/. 1 - c.1331G>T r.(?) p.(Gly444Val) - pathogenic g.22061135C>A g.21908201C>A - - ABCC9_000077 - - - - Germline - - - - - Sanne Savelberg
+/. 1 - c.1333G>C r.(?) p.(Val445Leu) - pathogenic g.22061133C>G g.21908199C>G - - ABCC9_000076 - - - - Germline - - - - - Sanne Savelberg
?/. 1 - c.1358G>C r.(?) p.(Gly453Ala) - VUS g.22061108C>G g.21908174C>G - - ABCC9_000303 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - - - Johan den Dunnen
-?/. 1 - c.1365T>C r.(?) p.(Ser455=) - likely benign g.22061101A>G g.21908167A>G ABCC9(NM_020297.2):c.1365T>C (p.S455=) - ABCC9_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 9 c.1375G>A r.(?) p.(Gly459Ser) - pathogenic g.22061091C>T g.21908157C>T - - ABCC9_000067 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/., -?/. 4 - c.1416T>C r.(?) p.(Phe472=) - benign, likely benign g.22061050A>G g.21908116A>G ABCC9(NM_020297.2):c.1416T>C (p.F472=) - ABCC9_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.1433C>T r.(?) p.(Ala478Val) - pathogenic g.22061033G>A g.21908099G>A - - ABCC9_000075 - - - - Germline - - - - - Sanne Savelberg
-?/. 1 - c.1436A>G r.(?) p.(Glu479Gly) - likely benign g.22061030T>C g.21908096T>C ABCC9(NM_020297.2):c.1436A>G (p.E479G) - ABCC9_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1456-3T>C r.spl? p.? - likely benign g.22059225A>G - ABCC9(NM_020297.2):c.1456-3T>C - ABCC9_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.1557G>A r.(?) p.(Glu519=) - benign, likely benign g.22059121C>T g.21906187C>T ABCC9(NM_020297.2):c.1557G>A (p.E519=) - ABCC9_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.1602A>G r.(?) p.(Leu534=) - benign g.22059076T>C g.21906142T>C ABCC9(NM_020297.2):c.1602A>G (p.L534=) - ABCC9_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1607C>T r.(?) p.(Thr536Ile) - pathogenic g.22059071G>A g.21906137G>A - - ABCC9_000074 - - - - Germline - - - - - Sanne Savelberg
?/. 1 - c.1609T>A r.(?) p.(Ser537Thr) - VUS g.22059069A>T g.21906135A>T ABCC9(NM_020297.2):c.1609T>A (p.S537T) - ABCC9_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1619-3C>G r.spl? p.? - VUS g.22048252G>C - ABCC9(NM_005691.2):c.1619-3C>G - ABCC9_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1659T>C r.(?) p.(Ala553=) - VUS g.22048209A>G g.21895275A>G ABCC9(NM_020297.2):c.1659T>C (p.A553=) - ABCC9_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1659+18T>C r.(=) p.(=) - benign g.22048191A>G g.21895257A>G ABCC9(NM_020297.2):c.1659+18T>C - ABCC9_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1677G>A r.(?) p.(Ala559=) - benign, likely benign g.22047091C>T g.21894157C>T ABCC9(NM_020297.2):c.1677G>A (p.A559=) - ABCC9_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.1770G>A r.(?) p.(Thr590=) - VUS g.22046998C>T g.21894064C>T ABCC9(NM_020297.2):c.1770G>A (p.T590=) - ABCC9_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1783G>A r.(?) p.(Ala595Thr) - VUS g.22046985C>T - ABCC9(NM_020297.2):c.1783G>A (p.A595T) - ABCC9_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.1802+5G>T r.spl? p.? - likely benign, VUS g.22046961C>A g.21894027C>A ABCC9(NM_020297.2):c.1802+5G>T - ABCC9_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.1803-18G>A r.(=) p.(=) - likely benign g.22040886C>T g.21887952C>T ABCC9(NM_020297.2):c.1803-18G>A - ABCC9_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1845T>C r.(?) p.(Gly615=) - likely benign g.22040826A>G g.21887892A>G ABCC9(NM_020297.2):c.1845T>C (p.G615=) - ABCC9_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.1848C>T r.(?) p.(Asp616=) - benign, likely benign g.22040823G>A g.21887889G>A ABCC9(NM_020297.2):c.1848C>T (p.D616=) - ABCC9_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.1849G>A r.(?) p.(Asp617Asn) - VUS g.22040822C>T g.21887888C>T ABCC9(NM_020297.2):c.1849G>A (p.D617N) - ABCC9_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.1858C>T r.(?) p.(Arg620Ter) - likely pathogenic, VUS g.22040813G>A g.21887879G>A ABCC9(NM_020297.2):c.1858C>T (p.R620*) - ABCC9_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.1885G>C r.(?) p.(Glu629Gln) - VUS g.22040786C>G g.21887852C>G ABCC9(NM_020297.2):c.1885G>C (p.E629Q) - ABCC9_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 5 - c.1887G>T r.(?) p.(Glu629Asp) - likely benign g.22040784C>A g.21887850C>A ABCC9(NM_020297.2):c.1887G>T (p.E629D) - ABCC9_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 2 - c.1909G>A r.(?) p.(Val637Ile) - likely benign g.22040762C>T g.21887828C>T ABCC9(NM_020297.2):c.1909G>A (p.V637I) - ABCC9_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1914G>A r.(?) p.(Gln638=) - likely benign g.22035805C>T g.21882871C>T - - ABCC9_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1932G>A r.(?) p.(Arg644=) - benign g.22035787C>T g.21882853C>T ABCC9(NM_020297.2):c.1932G>A (p.R644=) - ABCC9_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1950T>C r.(?) p.(Tyr650=) - likely benign g.22035769A>G g.21882835A>G ABCC9(NM_020297.2):c.1950T>C (p.Y650=) - ABCC9_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1987C>T r.(?) p.(Arg663Cys) - VUS g.22035732G>A g.21882798G>A - - ABCC9_000302 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - - - Johan den Dunnen
-?/. 1 - c.1988G>A r.(?) p.(Arg663His) - likely benign g.22035731C>T g.21882797C>T ABCC9(NM_020297.2):c.1988G>A (p.R663H) - ABCC9_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2000C>A r.(?) p.(Thr667Lys) - VUS g.22035719G>T g.21882785G>T - - ABCC9_000301 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - - - Johan den Dunnen
-/., -?/. 2 - c.2020-6T>C r.(=) p.(=) - benign, likely benign g.22028666A>G g.21875732A>G ABCC9(NM_020297.2):c.2020-6T>C - ABCC9_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 3 - c.2023A>G r.(?) p.(Thr675Ala) - VUS g.22028657T>C g.21875723T>C ABCC9(NM_020297.2):c.2023A>G (p.T675A) - ABCC9_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/., -?/. 4 - c.2050G>A r.(?) p.(Gly684Ser) - benign, likely benign g.22028630C>T g.21875696C>T ABCC9(NM_020297.2):c.2050G>A (p.G684S) - ABCC9_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.2081G>A r.(?) p.(Arg694Gln) - likely benign g.22028599C>T g.21875665C>T ABCC9(NM_020297.2):c.2081G>A (p.R694Q) - ABCC9_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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