Unique variants in the ABCC8 gene

Information The variants shown are described using the NM_000352.3 transcript reference sequence.

329 entries on 4 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 _1_39_ c.(?_-1)_(*1_)del r.0? p.0? - pathogenic g.(?_17414537)_(17498324_?)del - c.(?-1)_(4749+?)del - ABCC8_000177 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 3 _1_22i c.-216_2694+531del r.0? p.0? - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del 105_2700del - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - - - Anne-Françoise Roux
+/. 1 _1_6i c.(?_-1)_(1011+1_1012-1)del r.0? p.0? - pathogenic g.(17474831_17482034)_(17498324_?)del - c.(?-1)_(1011+1_1012-1)del - ABCC8_000175 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 2 _1_22i c.-126_(2556+1_2557-1){0} r.0? p.0? - pathogenic g.(17432201_17434212)_(17553090_17554801)del, g.(?_g.17436861)_(17546526_?)del 17439772_17546526del del ex3-27 - USH1C_000212 123kb deletion incl. ABCC8 and USH1C PubMed: Neuhaus 2017 - - Germline - - - - - LOVD
+/. 1 1 c.19G>T r.(?) p.(Gly7Cys) - pathogenic g.17498305C>A g.17476758C>A - - ABCC8_000411 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.25G>T r.(?) p.(Glu9*) - pathogenic g.17498299C>A g.17476752C>A - - ABCC8_000410 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.29del r.(?) p.(Asn10Thrfs*68) - pathogenic g.17498296del g.17476749del - - ABCC8_000409 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.40G>T r.(?) p.(Ala14Ser) - VUS g.17498284C>A g.17476737C>A - - ABCC8_000408 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 1 c.44A>T r.(?) p.(Tyr15Phe) - VUS g.17498280T>A g.17476733T>A - - ABCC8_000407 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.55C>T r.(?) p.(Gln19*) - pathogenic g.17498269G>A g.17476722G>A - - ABCC8_000406 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.74del r.(?) p.(Gly25Alafs*53) - pathogenic g.17498251del g.17476704del - - ABCC8_000405 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.78C>G r.(?) p.(Cys26Trp) - pathogenic g.17498246G>C g.17476699G>C - - ABCC8_000404 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.81_82insA r.(?) p.(Val28Serfs*61) - pathogenic g.17498242_17498243insT g.17476695_17476696insT - - ABCC8_000403 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 - c.91C>T r.(?) p.(Leu31Phe) - VUS g.17498233G>A g.17476686G>A - - ABCC8_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.105G>A r.(?) p.(Pro35=) - likely benign g.17498219C>T g.17476672C>T ABCC8(NM_000352.3):c.105G>A (p.(=)) - ABCC8_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 1 c.121T>C r.(?) p.(Phe41Leu) - VUS g.17498203A>G g.17476656A>G - - ABCC8_000402 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1 c.137T>C r.(?) p.(Ile46Thr) - pathogenic g.17498187A>G g.17476640A>G - - ABCC8_000401 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 1i c.148+1G>A r.spl p.? - pathogenic g.17498175C>T g.17476628C>T - - ABCC8_000400 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 - c.(148+1_149-1)_(290+1_291-1)del r.? p.? - pathogenic g.(17491770_17496432)_(17496575_17498175)del - - - ABCC8_000394 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 2 c.173T>A r.(?) p.(Val58Glu) - pathogenic g.17496550A>T g.17475003A>T - - ABCC8_000399 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 2 c.175C>A r.(?) p.(His59Asn) - VUS g.17496548G>T g.17475001G>T - - ABCC8_000398 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 2 c.195G>A r.(?) p.(Trp65*) - pathogenic g.17496528C>T g.17474981C>T - - ABCC8_000397 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-/. 2 - c.207T>C r.(?) p.(Pro69=) - benign g.17496516A>G g.17474969A>G ABCC8(NM_000352.5):c.207T>C (p.P69=) - ABCC8_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.215A>G r.(?) p.(Asn72Ser) - likely pathogenic g.17496508T>C - - - ABCC8_000526 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.221G>T r.(?) p.(Arg74Leu) - pathogenic g.17496502C>A g.17474955C>A - - ABCC8_000396 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 2 c.225_229del r.(?) p.(Trp75Cysfs*12) - pathogenic g.17496494_17496498del g.17474947_17474951del - - ABCC8_000395 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 1 - c.262G>A r.(?) p.(Glu88Lys) - likely benign g.17496461C>T g.17474914C>T ABCC8(NM_000352.3):c.262G>A (p.(Glu88Lys)) - ABCC8_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 3 c.291G>T r.(?) p.(Gly96=) - VUS g.17491769C>A g.17470222C>A - - ABCC8_000393 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 - c.(290+1_291-1)_(822+1_823-1)del r.? p.? - pathogenic g.(17482224_17483129)_(17491770_17496432)del - - - ABCC8_000368 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-/. 1 - c.330C>T r.(?) p.(Ala110=) - benign g.17491730G>A g.17470183G>A ABCC8(NM_000352.3):c.330C>T (p.(=)) - ABCC8_000488 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.331G>A r.(?) p.(Gly111Arg) - likely pathogenic g.17491729C>T g.17470182C>T - - ABCC8_000497 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs761749884 Germline - 3/2795 individuals - - - Mohammed Faruq
?/. 1 3 c.361G>A r.(?) p.(Val121Met) - VUS g.17491699C>T g.17470152C>T - - ABCC8_000392 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 3 c.362T>C r.(?) p.(Val121Ala) - VUS g.17491698A>G g.17470151A>G - - ABCC8_000391 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 3 c.380T>C r.(?) p.(Ile127Thr) - VUS g.17491680A>G g.17470133A>G - - ABCC8_000390 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 3 c.398C>G r.(?) p.(Pro133Arg) - pathogenic g.17491662G>C g.17470115G>C - - ABCC8_000389 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 3 c.410T>G r.(?) p.(Ile137Ser) - VUS g.17491650A>C g.17470103A>C - - ABCC8_000388 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 - c.(412+1_413-1)_(579+1_580-1)del r.? p.? - pathogenic g.(17483373_17484984)_(17485152_17491647)del - c.413-?_579+?del - ABCC8_000385 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 4 c.415del r.(?) p.(Leu139Cysfs*38) - pathogenic g.17485151del g.17463604del - - ABCC8_000387 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 1 - c.423G>A r.(?) p.(Val141=) - likely benign g.17485141C>T g.17463594C>T ABCC8(NM_000352.3):c.423G>A (p.(=)) - ABCC8_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.502C>T r.(?) p.(Arg168Cys) - VUS g.17485062G>A g.17463515G>A - - ABCC8_000486 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.522dup r.(?) p.(Leu175Alafs*97) - pathogenic g.17485042dup g.17463495dup - - ABCC8_000386 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-/. 2 - c.579+14C>T r.(=) p.(=) - benign g.17484971G>A g.17463424G>A ABCC8(NM_000352.5):c.579+14C>T - ABCC8_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 4i c.580-16_580-14del r.spl? p.(=) - VUS g.17483386_17483388del g.17461839_17461841del - - ABCC8_000384 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 4i c.580-3C>G r.spl? p.? - pathogenic g.17483375G>C g.17461828G>C - - ABCC8_000383 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 4i c.580-2A>G r.spl p.? - pathogenic g.17483374T>C g.17461827T>C - - ABCC8_000382 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 5 c.581G>A r.(?) p.(Arg194Lys) - VUS g.17483371C>T g.17461824C>T - - ABCC8_000381 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 5 c.602C>T r.(?) p.(Pro201Leu) - VUS g.17483350G>A g.17461803G>A - - ABCC8_000380 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 5 c.617C>T r.(?) p.(Pro206Leu) - pathogenic g.17483335G>A g.17461788G>A - - ABCC8_000379 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 5 c.635A>G r.(?) p.(Asp212Gly) - pathogenic g.17483317T>C g.17461770T>C - - ABCC8_000378 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 5 c.636C>G r.(?) p.(Asp212Glu) - pathogenic g.17483316G>C g.17461769G>C - - ABCC8_000377 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+?/. 1 - c.638T>C r.(?) p.(Leu213Pro) - likely pathogenic g.17483314A>G g.17461767A>G ABCC8(NM_001287174.1):c.638T>C (p.L213P) - ABCC8_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.655C>T r.(?) p.(Gln219Ter) - pathogenic g.17483297G>A g.17461750G>A ABCC8(NM_001287174.1):c.655C>T (p.Q219*) - ABCC8_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 5 c.674_675insCACGAAGTAGCA r.(?) p.(Ser226_Asp1580delinsThr) - pathogenic g.17483277_17483278insTGCTACTTCGTG g.17461730_17461731insTGCTACTTCGTG - - ABCC8_000376 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 5 c.689A>G r.(?) p.(Tyr230Cys) - pathogenic g.17483263T>C g.17461716T>C - - ABCC8_000375 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 5 c.704C>T r.(?) p.(Ala235Val) - pathogenic g.17483248G>A g.17461701G>A - - ABCC8_000374 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 5 c.718G>A r.(?) p.(Ala240Thr) - VUS g.17483234C>T g.17461687C>T - - ABCC8_000373 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 1 5 c.747C>T r.(?) p.(=) - likely benign g.17483205G>A g.17461658G>A Ala249Ala - ABCC8_000101 - PubMed: Gilissen 2014 - - De novo - - - - - Marianne Vos (LOVD-team)
?/. 1 - c.751G>A r.(?) p.(Gly251Arg) - VUS g.17483201C>T g.17461654C>T ABCC8(NM_001287174.1):c.751G>A (p.G251R) - ABCC8_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.761C>T r.(?) p.(Pro254Leu) - pathogenic g.17483191G>A g.17461644G>A - - ABCC8_000372 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 5 c.769A>C r.(?) p.(Met257Leu) - VUS g.17483183T>G g.17461636T>G - - ABCC8_000371 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 5 c.770T>C r.(?) p.(Met257Thr) - VUS g.17483182A>G g.17461635A>G - - ABCC8_000370 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 5 c.809T>G r.(?) p.(Phe270Cys) - VUS g.17483143A>C g.17461596A>C - - ABCC8_000369 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 1 - c.822+20C>T r.(=) p.(=) - likely benign g.17483110G>A g.17461563G>A ABCC8(NM_000352.3):c.822+20C>T (p.(=)) - ABCC8_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.823-10C>T r.(=) p.(=) - VUS g.17482233G>A g.17460686G>A ABCC8(NM_000352.3):c.823-10C>T (p.(=)) - ABCC8_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.823-4G>A r.spl? p.? - likely benign g.17482227C>T - ABCC8(NM_000352.5):c.823-4G>A - ABCC8_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.824G>A r.(?) p.(Arg275Gln) - pathogenic g.17482222C>T - - - ABCC8_000505 - - - - Germline - - - - - Sha Hong
?/. 1 - c.839G>A r.(?) p.(Gly280Asp) - VUS g.17482207C>T g.17460660C>T - - ABCC8_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.844C>T r.(?) p.(Gln282*) - pathogenic g.17482202G>A g.17460655G>A - - ABCC8_000367 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 6 c.878A>C r.(?) p.(His293Pro) - VUS g.17482168T>G g.17460621T>G - - ABCC8_000366 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+?/. 1 - c.928G>A r.(?) p.(Asp310Asn) - likely pathogenic g.17482118C>T g.17460571C>T ABCC8(NM_001287174.2):c.928G>A (p.D310N) - ABCC8_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 6 c.947G>A r.(?) p.(Gly316Glu) - VUS g.17482099C>T g.17460552C>T - - ABCC8_000365 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 6 c.985A>T r.(?) p.(Lys329*) - pathogenic g.17482061T>A g.17460514T>A - - ABCC8_000364 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 6i c.1012-2A>G r.spl p.? - pathogenic g.17474832T>C g.17453285T>C - - ABCC8_000363 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 7 c.1024G>A r.(?) p.(Gly342Arg) - VUS g.17474818C>T g.17453271C>T - - ABCC8_000362 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1032C>G r.(?) p.(Tyr344*) - pathogenic g.17474810G>C g.17453263G>C - - ABCC8_000361 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1049A>G r.(?) p.(Glu350Gly) - pathogenic g.17474793T>C g.17453246T>C - - ABCC8_000360 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 3 - c.1063G>A r.(?) p.(Ala355Thr) - VUS g.17474779C>T g.17453232C>T ABCC8(NM_000352.5):c.1063G>A (p.A355T), ABCC8(NM_001287174.1):c.1063G>A (p.A355T) - ABCC8_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 7 c.1068C>G r.(?) p.(Tyr356*) - pathogenic g.17474774G>C g.17453227G>C - - ABCC8_000359 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+?/., ?/. 2 7 c.1069G>A r.(?) p.(Val357Ile) - likely pathogenic, VUS g.17474773C>T g.17453226C>T - - ABCC8_000358 parents not available De Franco et al 2019, submitted, PubMed: Gelinas 2020 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Thomas Laver
+/. 1 7 c.1079T>C r.(?) p.(Val360Ala) - pathogenic g.17474763A>G g.17453216A>G - - ABCC8_000357 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1085del r.(?) p.(Leu362Argfs*26) - pathogenic g.17474757del g.17453210del - - ABCC8_000356 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1096C>T r.(?) p.(Leu366Phe) - pathogenic g.17474746G>A g.17453199G>A - - ABCC8_000355 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1112C>T r.(?) p.(Thr371Ile) - pathogenic g.17474730G>A g.17453183G>A - - ABCC8_000354 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1120C>T r.(?) p.(Gln374*) - pathogenic g.17474722G>A g.17453175G>A - - ABCC8_000353 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1138del r.(?) p.(Ala380Profs*8) - pathogenic g.17474705del g.17453158del - - ABCC8_000352 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 7 c.1150_1159del r.(?) p.(Gly384*) - pathogenic g.17474687_17474696del g.17453140_17453149del - - ABCC8_000351 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 8 c.1183A>T r.(?) p.(Ile395Phe) - VUS g.17470212T>A g.17448665T>A - - ABCC8_000350 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 8 c.1238C>G r.(?) p.(Thr413Ser) - VUS g.17470157G>C g.17448610G>C - - ABCC8_000349 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 8 c.1271A>G r.(?) p.(Asp424Gly) - VUS g.17470124T>C g.17448577T>C - - ABCC8_000348 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 8i c.1332+1G>A r.spl p.? - pathogenic g.17470062C>T g.17448515C>T - - ABCC8_000347 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 1 8i c.1332+3A>G r.spl? p.? - pathogenic g.17470060T>C g.17448513T>C - - ABCC8_000346 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 3 8i c.1332+4del r.spl? p.? ACMG likely benign g.17470059del g.17448512del ABCC8(NM_000352.3):c.1332+4del (p.?), ABCC8(NM_001287174.1):c.1332+4delC - ABCC8_000148 alternate (paternal) allele carrying probably pathogenic variant, 1 more item - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Cécile Saint-Martin
-/. 1 - c.1333-1186T>G r.(=) p.(=) - benign g.17466045A>C - - - ABCC8_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.(1332+1_1333-1)_(1671+1_1672-1)dup r.? p.? - pathogenic g.(17452507_17453750)_(17464860_17470062)dup - - - ABCC8_000330 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
?/. 1 9 c.1337T>C r.(?) p.(Ile446Thr) - VUS g.17464855A>G g.17443308A>G - - ABCC8_000345 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
+/. 2 9 c.1337_1338dup r.(?) p.(Val447Leufs*4), p.(Val447LeufsTer4) - pathogenic g.17464854_17464855dup g.17443307_17443308dup ABCC8(NM_001287174.1):c.1337_1338dupTT (p.V447Lfs*4) - ABCC8_000344 VKGL data sharing initiative Nederland De Franco et al 2019, submitted - - CLASSIFICATION record, Germline - - - - - Thomas Laver, VKGL-NL_VUmc
?/. 1 9 c.1369G>A r.(?) p.(Gly457Arg) - VUS g.17464823C>T g.17443276C>T - - ABCC8_000343 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
-?/. 1 - c.1457G>A r.(?) p.(Arg486Gln) - likely benign g.17464735C>T - ABCC8(NM_001351295.1):c.1457G>A (p.R486Q) - ABCC8_000525 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 9i c.1467+6T>G r.spl? p.(=), p.? ACMG likely pathogenic (recessive), pathogenic g.17464719A>C g.17443172A>C - - ABCC8_000342 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver, Cécile Saint-Martin
+/. 1 9i c.1468-48G>A r.spl? p.(=) - pathogenic g.17464477C>T g.17442930C>T - - ABCC8_000341 - De Franco et al 2019, submitted - - Germline - - - - - Thomas Laver
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