Unique variants in the SLC6A8 gene

Information The variants shown are described using the NM_005629.3 transcript reference sequence.

186 entries on 2 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.-243224_*649237dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-/., ?/. 4 1i c.-5A>G r.(=), r.(?) p.(=) - benign, VUS g.152954025A>G g.153688570A>G SLC6A8(NM_005629.4):c.-5A>G - SLC6A8_003188 also found in wild type, VKGL data sharing initiative Nederland - - rs384573 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+ 1 _1_13_ c.-1_*1del r.(?) p.0? - pathogenic (recessive) g.152954029_152960670del g.153688574_153695215del - - SLC6A8_003139 - PubMed: Anselm 2006 - - Germline - - - - - Gajja Salomons
+/. 1 - c.*1131_*1379{0} r.(?) p.(=) - pathogenic (recessive) g.152961800_152967144del g.153696345_153701689del del ex8 - BCAP31_000041 SLC6A8 transcript level 0.46 PubMed: Cacciagli 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 4i_13_ c.778-36_*1379{0} r.? p.? - pathogenic (recessive) g.152958460_152977354del g.153693005_153711899del - - BCAP31_000042 - PubMed: Osaka 2012 - - De novo - - - - - Johan den Dunnen
-/- 2 1 c.11A>G r.(?) p.(Lys4Arg), p.Lys4Arg - benign, NA g.152954040A>G g.153688585A>G - - SLC6A8_003003 overexpression in SLC6A8 deficient fibroblasts restored creatine uptake, 1 more item PubMed: Clark 2006, PubMed: Rosenberg 2007, PubMed: Rosenberg 2007 - - Germline, In vitro (cloned) - 0/628 controls SacI - - Gajja Salomons
-/- 2 1 c.76G>A r.(?) p.(Gly26Arg), p.Gly26Arg - benign, NA g.152954105G>A g.153688650G>A - - SLC6A8_003005 overexpression in SLC6A8 deficient fibroblasts restored creatine uptake, 1 more item PubMed: Clark 2006, PubMed: Rosenberg 2007, PubMed: Rosenberg 2007 - - Germline, In vitro (cloned) - 0/655 controls AvaI - - Gajja Salomons
-?/. 2 - c.87G>A r.(?) p.(Gly29=) - likely benign g.152954116G>A g.153688661G>A SLC6A8(NM_005629.3):c.87G>A (p.G29=), SLC6A8(NM_005629.4):c.87G>A (p.G29=) - SLC6A8_003231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.89C>T r.(?) p.(Ala30Val) - likely benign g.152954118C>T - SLC6A8(NM_005629.3):c.89C>T (p.A30V) - SLC6A8_003247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.92C>T r.(?) p.(Pro31Leu) - likely benign g.152954121C>T - SLC6A8(NM_005629.3):c.92C>T (p.P31L) - SLC6A8_003250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 1 c.219del r.(?) p.(Asn74Thrfs*23) - pathogenic (recessive) g.152954248del g.153688793del 219delC - SLC6A8_003008 - PubMed: Dezortova 2008 - - Germline - - - - - Gajja Salomons
+/+ 2 1 c.259G>A r.(?) p.(Gly87Arg), p.Gly87Arg - NA, pathogenic (recessive) g.152954288G>A g.153688833G>A - - SLC6A8_003009 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake, 1 more item PubMed: Rosenberg 2004, PubMed: Rosenberg 2007, PubMed: Rosenberg 2007 - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 1 1i c.262_262+1delinsTT r.spl p.? - pathogenic (recessive) g.152954291_152954292delinsTT g.153688836_153688837delinsTT - - SLC6A8_003010 1 more item Journal: Wilcken 2008, PubMed: Betsalel 2010 - - De novo - - - - - Gajja Salomons
+/? 1 1i c.262+1G>T r.spl p.? - pathogenic (recessive) g.152954292G>T g.153688837G>T - - SLC6A8_003169 - - - - Germline - - - - - Gajja Salomons
-/-, -/. 2 1i c.262+26T>C r.(=), r.(?) p.(=) - benign g.152954317T>C g.153688862T>C IVS1+26T>C - SLC6A8_003011 Detected in control(s). No effect predicted by 5 splice predictors PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - rs192387453 Germline - 6/280 controls - - - Andreas Laner, Gajja Salomons
-?/-? 1 1i c.262+53G>C r.(?) p.(=) - likely benign g.152954344G>C g.153688889G>C - - SLC6A8_003012 No effect predicted by 5 splice predictors, 3/1900 MR patients PubMed: Clark 2006 - - Germline - 0/280 controls - - - Gajja Salomons
-/- 1 1i c.262+65G>A r.(?) p.(=) - benign g.152954356G>A g.153688901G>A - - SLC6A8_003013 Normal urine in one male MR patient. No effect predicted by 5 splice predictors, 2/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-?, ?/. 2 1i c.263-95G>A r.(=), r.(?) p.(=) - likely benign, VUS g.152955735G>A g.153690280G>A - - SLC6A8_003174 - - - - Germline - - - - - Andreas Laner, Gajja Salomons
+/+ 2 1i c.263-2A>G r.263_325del p.Gly88_Leu108del - pathogenic (recessive) g.152955828A>G g.153690373A>G r.263_328del - SLC6A8_003015 1 more item PubMed: Schiaffino 2005, PubMed: Betsalel 2010 - - Germline - - - - - Gajja Salomons
+/+ 1 1i c.263-1G>C r.263_325del p.Gly88_Leu108del - pathogenic (recessive) g.152955829G>C g.153690374G>C - - SLC6A8_003014 1 more item PubMed: Betsalel 2010 - - De novo - - - - - Gajja Salomons
+/+ 1 2 c.291_292insAGGG r.(?) p.(Ala98Argfs*92) - pathogenic (recessive) g.152955858_152955859insAGGG g.153690403_153690404insAGGG - - SLC6A8_003016 - PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
-?/-?, -?/. 2 2 c.306A>G r.(?) p.(=), p.(Gly102=) - likely benign g.152955873A>G g.153690418A>G SLC6A8(NM_005629.3):c.306A>G (p.G102=) - SLC6A8_003017 No effect predicted by 5 splice predictors. , 1/1900 MR patients, 1 more item PubMed: Betsalel 2010 - - CLASSIFICATION record, Germline - 0/280 controls - - - Gajja Salomons, VKGL-NL_Rotterdam
+/+, +/. 14 2 c.321_323del r.(?) p.(Phe107del), p.Phe107del - NA, pathogenic, pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 316_318del, 319_321delCTT - SLC6A8_003018 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake, 1 more item PubMed: degrauw 2002, PubMed: Rosenberg 2007, PubMed: Rosenberg 2007, PubMed: Zhu 2015 - - De novo, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Gajja Salomons
-?/. 1 - c.366T>C r.(?) p.(Asn122=) - likely benign g.152955933T>C - SLC6A8(NM_005629.3):c.366T>C (p.N122=) - SLC6A8_003251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/+? 3 2 c.370T>C r.(?) p.(Trp124Arg) - VUS g.152955937T>C g.153690482T>C - - SLC6A8_003019 variant not detected in grandmother, 1 more item PubMed: van de Kamp 2013 - - De novo, Germline - - - - - Gajja Salomons
-?/-? 1 2i c.394+52C>T r.(?) p.(=) - likely benign g.152956013C>T g.153690558C>T - - SLC6A8_003020 No effect predicted by 5 splice predictors, 2/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 2i c.394+66C>A r.(?) p.(=) - likely benign g.152956027C>A g.153690572C>A - - SLC6A8_003021 No effect predicted by 5 splice predictors, 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 2i c.394+72C>A r.(?) p.(=) - likely benign g.152956033C>A g.153690578C>A - - SLC6A8_003022 No effect predicted by 5 splice predictors, 4/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-/-, ?/. 3 2i c.394+88G>A r.(=), r.(?) p.(=) - benign, VUS g.152956049G>A g.153690594G>A - - SLC6A8_003024 Detected in control(s). No effect predicted by 5 splice predictors, 1/1900 MR patients PubMed: Betsalel 2010 - rs6643763 Germline - 1/281 controls - - - Andreas Laner, Gajja Salomons
-/- 1 2i c.394+88G>C r.(?) p.(=) - benign g.152956049G>C g.153690594G>C IVS2+88G>C - SLC6A8_003023 detected in control(s); no effect predicted by 5 splice predictors PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - - Germline - 7/276 controls rs6643763 - - Gajja Salomons
+?/+? 4 3 c.395G>T r.(?) p.(Gly132Val) - likely pathogenic (recessive) g.152956759G>T g.153691304G>T - - SLC6A8_003025 - PubMed: Lion-Francois 2006 - - Germline - - - - - Gajja Salomons
?/. 1 - c.420C>T r.(?) p.(Ile140=) - VUS g.152956784C>T - SLC6A8(NM_005629.3):c.420C>T (p.I140=) - SLC6A8_003248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 3 3 c.428_430del r.(?) p.(Tyr143del) - pathogenic (recessive) g.152956792_152956794del g.153691337_153691339del 428_430delACT - SLC6A8_003135 DNA statuts not known PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
+/+ 1 3 c.462G>A r.(?) p.(Trp154*) - pathogenic (recessive) g.152956826G>A g.153691371G>A - - SLC6A8_003026 - PubMed: Fons 2009 - - Germline - - - - - Gajja Salomons
+/+ 2 3 c.467_469del r.(?) p.(Phe156del) - pathogenic (recessive) g.152956831_152956833del g.153691376_153691378del 467_469delTCT - SLC6A8_003140 - - - - Germline, Somatic - - - - - Gajja Salomons
-?/-? 1 3 c.495C>T r.(?) p.(=) - likely benign g.152956859C>T g.153691404C>T - - SLC6A8_003027 Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/. 1 - c.510C>T r.(?) p.(Ala170=) - likely benign g.152956874C>T g.153691419C>T SLC6A8(NM_005629.3):c.510C>T (p.A170=) - SLC6A8_003236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.537C>T r.(?) p.(Pro179=) - likely benign g.152956901C>T - SLC6A8(NM_005629.3):c.537C>T (p.P179=) - SLC6A8_003252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/+? 2 3 c.541T>C r.(?) p.(Cys181Arg) - pathogenic, VUS g.152956905T>C g.153691450T>C - - SLC6A8_003028 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: van de Kamp 2013 - - De novo, Germline - myoblasts and muscle biopsy present - - - Andreas Laner, Gajja Salomons
-/-, -?/. 3 3 c.544G>A r.(?) p.(Val182Met) - benign, likely benign g.152956908G>A g.153691453G>A SLC6A8(NM_005629.3):c.544G>A (p.V182M), SLC6A8(NM_005629.4):c.544G>A (p.V182M) - SLC6A8_003029 VKGL data sharing initiative Nederland, 1 more item PubMed: Clark 2006 - - CLASSIFICATION record, Germline - 1/635 controls Hpy;Ch4V - - Gajja Salomons, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, +/. 3 3 c.570_571del r.(?) p.(Ala191Glnfs*10), p.(Ala191GlnfsTer10) - pathogenic, pathogenic (recessive) g.152956934_152956935del g.153691479_153691480del 568_569delTG, SLC6A8(NM_005629.4):c.570_571delTG (p.A191Qfs*10) - SLC6A8_003030 VKGL data sharing initiative Nederland Journal: De Kort 2006 - - CLASSIFICATION record, Germline - - - - - Gajja Salomons, VKGL-NL_Groningen
-?/-? 1 3 c.603C>T r.(?) p.(=) - likely benign g.152956967C>T g.153691512C>T - - SLC6A8_003031 No effect predicted by 5 splice predictors, 1/1900 MR patients PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/. 1 - c.617G>A r.(?) p.(Arg206His) - likely benign g.152956981G>A g.153691526G>A SLC6A8(NM_005629.3):c.617G>A (p.R206H) - SLC6A8_003237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 3 c.619C>T r.(?) p.(Arg207Trp) - pathogenic (recessive) g.152956983C>T g.153691528C>T - - SLC6A8_003182 overexpression PubMed: Ardon 2016 - - Germline - - - - - Vered Raz
./. 1 - c.644+2_644+3del r.spl? p.? - pathogenic g.152957010_152957011del g.153691555_153691556del SLC6A8 splice donor - SLC6A8_003227 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/-?, -?/. 2 3i c.644+9G>A r.(=), r.(?) p.(=) - likely benign g.152957017G>A g.153691562G>A SLC6A8(NM_005629.4):c.644+9G>A - SLC6A8_003032 Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 2/1900 MR patients, 1 more item PubMed: Betsalel 2010 - - CLASSIFICATION record, Germline - 0/280 controls - - - Gajja Salomons, VKGL-NL_Groningen
+/. 1 - c.645-1G>A r.spl? p.? - pathogenic g.152957429G>A g.153691974G>A - - SLC6A8_003220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 4 c.676G>T r.(?) p.(Glu226*) - pathogenic (recessive) g.152957461G>T g.153692006G>T - - SLC6A8_003033 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: van de Kamp 2013 - - De novo - - - - - Gajja Salomons
?/+? 1 4 c.729G>T r.(?) p.(Trp243Cys) - VUS g.152957514G>T g.153692059G>T - - SLC6A8_003034 - PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
-/., -?/-?, -?/. 3 4i c.777+4C>T r.(?), r.spl? p.(=), p.? - benign, likely benign g.152957566C>T g.153692111C>T SLC6A8(NM_005629.3):c.777+4C>T, SLC6A8(NM_005629.4):c.777+4C>T - SLC6A8_003035 VKGL data sharing initiative Nederland, 1 more item PubMed: Betsalel 2010 - - CLASSIFICATION record, Germline - 0/280 controls - - - Gajja Salomons, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.778-121T>C r.(=) p.(=) - benign g.152958375T>C g.153692920T>C SLC6A8(NM_005629.4):c.778-121T>C - SLC6A8_003199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.778-8C>G r.(=) p.(=) - VUS g.152958488C>G g.153693033C>G SLC6A8(NM_001142805.1):c.778-8C>G (p.(=)) - SLC6A8_003200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 3 4i c.778-2A>G r.spl p.? - pathogenic (recessive) g.152958494A>G g.153693039A>G - - SLC6A8_003036 4 out of 4 splice predictors predict the complete loss of the splice site. PubMed: Betsalel 2010 - - Germline - - - - - Gajja Salomons
-?/-? 1 5 c.780C>T r.(?) p.(=) - likely benign g.152958498C>T g.153693043C>T - - SLC6A8_003039 1 more item PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
+/+ 2 5 c.786C>G r.(?) p.(Tyr262*) - pathogenic (recessive) g.152958504C>G g.153693049C>G - - SLC6A8_003040 mutation appears to be mosaic, not detected in mother, 1 more item PubMed: degrauw 2002 - - Germline, Somatic - - - - - Gajja Salomons
-/-, -/., -?/. 4 5 c.813C>T r.(=), r.(?) p.(=), p.(Val271=) - benign, likely benign g.152958531C>T g.153693076C>T SLC6A8(NM_005629.3):c.813C>T (p.V271=), SLC6A8(NM_005629.4):c.813C>T (p.V271=) - SLC6A8_003041 Detected in control(s). No effect predicted by 5 splice predictors, 2/1900 MR patients, 1 more item PubMed: Clark 2006, PubMed: Betsalel 2010 - - CLASSIFICATION record, Germline - 4/617 controls AvaII - - Andreas Laner, Gajja Salomons, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 2 - c.820G>A r.(?) p.(Val274Met) - VUS g.152958538G>A g.153693083G>A SLC6A8(NM_005629.3):c.820G>A (p.V274M), SLC6A8(NM_005629.4):c.820G>A (p.V274M) - SLC6A8_003232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.831G>A r.(?) p.(Val277=) - likely benign g.152958549G>A - SLC6A8(NM_005629.3):c.831G>A (p.V277=) - SLC6A8_003245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 5 c.856C>T r.(?) p.(=) - likely benign g.152958574C>T g.153693119C>T - - SLC6A8_003042 No effect predicted by 5 splice predictors, 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
+/+ 2 5 c.878_879del r.(?) p.(Lys293fs*3) - pathogenic (recessive) g.152958596_152958597del g.153693141_153693142del 878_879delTC - SLC6A8_003043 - PubMed: Poo-Arguelles 2006 - - Germline - - - - - Gajja Salomons
+/+ 2 5 c.884_885del r.(?) p.(Pro295Argfs*169) - pathogenic (recessive) g.152958602_152958603del g.153693147_153693148del 884_885delCT - SLC6A8_003044 - PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
+/+ 2 5 c.912G>A r.772_912del p.Ile260_Gln304del - pathogenic (recessive) g.152958630G>A g.153693175G>A - - SLC6A8_003045 1 more item PubMed: Lion-Francois 2006, PubMed: Betsalel 2010 - - Germline - - - - - Gajja Salomons
-?/-? 1 5i c.913-40T>C r.(?) p.(=) - likely benign g.152958678T>C g.153693223T>C - - SLC6A8_003046 Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 8/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
+/+ 3 6 c.917G>A r.(?) p.(Trp306*) - pathogenic (recessive) g.152958722G>A g.153693267G>A - - SLC6A8_003047 - PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
+/+ 2 6 c.942_944del r.(?) p.(Phe315del) - pathogenic (recessive) g.152958747_152958749del g.153693292_153693294del 942_944delCTT - SLC6A8_003048 - PubMed: Fons 2009 - - Germline - - - - - Gajja Salomons
+/? 2 6 c.943T>A r.(?) p.(Phe315Ile) - pathogenic (recessive) g.152958748T>A g.153693293T>A - - SLC6A8_003151 - - - - Germline - - - - - Gajja Salomons
+/+ 3 6 c.950dup r.(?) p.(Tyr317*), p.Tyr317* - NA, pathogenic (recessive) g.152958755dup g.153693300dup 950_951insA - SLC6A8_003049 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake, 1 more item PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 1 6 c.974_975del r.(?) p.(Thr325Serfs*139) - pathogenic (recessive) g.152958779_152958780del g.153693324_153693325del 974_975delCA - SLC6A8_003050 - PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.975A>C r.(?) p.(Thr325=) - likely benign g.152958780A>C - SLC6A8(NM_005629.3):c.975A>C (p.T325=) - SLC6A8_003243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 6 c.986G>T r.(?) p.(Ser329Ile) - pathogenic (recessive) g.152958791G>T g.153693336G>T - - SLC6A8_003141 - - - - Germline - - - - - Gajja Salomons
+/+, +/., ./. 26 6 c.1006_1008del r.(?) p.(Asn336del), p.Asn336del - NA, pathogenic, pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1005_1007delCAA, 1006_1008delAAC, NM_005629.3:c.1005_1007del (Asn336del), 1 more item - SLC6A8_003051, SLC6A8_003228 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake, 2 more items PubMed: Clark 2006, PubMed: de Ligt 2012, PubMed: Rosenberg 2007, PubMed: Schuurs-Hoeijmakers 2013 - - CLASSIFICATION record, De novo, Germline, In vitro (cloned) yes 0/280 controls - - - Johan den Dunnen, Andreas Laner, Gajja Salomons, VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 4 6 c.1011C>G r.(?) p.(Cys337Trp), p.Cys337Trp - NA, pathogenic (recessive) g.152958816C>G g.153693361C>G - - SLC6A8_003052 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake, 1 more item PubMed: Rosenberg 2004, PubMed: Rosenberg 2007, PubMed: Rosenberg 2007 - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 1 6i c.1016+2T>C r.spl? p.? - pathogenic (recessive) g.152958823T>C g.153693368T>C 1016+2C>T - SLC6A8_003053 5 out of 5 splice predictors predict the complete loss of the splice site. PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls CacB1 - - Gajja Salomons
-/-, -?/., ?/. 4 6i c.1016+9C>T r.(=), r.= p.(=), p.= - benign, likely benign, VUS g.152958830C>T g.153693375C>T IVS6+9C>T, SLC6A8(NM_005629.3):c.1016+9C>T, SLC6A8(NM_005629.4):c.1016+9C>T - SLC6A8_003054 VKGL data sharing initiative Nederland, 1 more item PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - - CLASSIFICATION record, Germline - 0/280 controls - - - Gajja Salomons, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/- 1 6i c.1016+41_1016+45del r.(?) p.(=) - benign g.152958862_152958866del g.153693407_153693411del 1016+41_45delTGCCC - SLC6A8_003056 Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 6i c.1016+41_1016+45dup r.(?) p.(=) - likely benign g.152958862_152958866dup g.153693407_153693411dup 1016+41_45dupTGCCC - SLC6A8_003055 No effect predicted by 5 splice predictors, 11/1900 MR patients PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 6i c.1017-38C>G r.(?) p.(=) - likely benign g.152958879C>G g.153693424C>G - - SLC6A8_003057 Mild effect (<10% reduced change) predicted by 1 out of 5 splice predictors, 6/1900 MR patients PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/. 1 - c.1021G>A r.(?) p.(Ala341Thr) - likely benign g.152958921G>A g.153693466G>A - - SLC6A8_003238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1038C>T r.(?) p.(Leu346=) - likely benign g.152958938C>T g.153693483C>T SLC6A8(NM_005629.4):c.1038C>T (p.L346=) - SLC6A8_003202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+ 2 7 c.1040_1042del r.(?) p.(Ile347del), p.Ile347del - NA, pathogenic (recessive) g.152958940_152958942del g.153693485_153693487del 1040_1042delTCA - SLC6A8_003058 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake, 1 more item PubMed: Clark 2006, PubMed: Rosenberg 2007, PubMed: Rosenberg 2007 - - Germline, In vitro (cloned) - 0/280 controls - - - Gajja Salomons
+/+ 3 7 c.1059_1061del r.(?) p.(Phe354del) - pathogenic (recessive) g.152958959_152958961del g.153693504_153693506del 1059_1061delCTT - SLC6A8_003059 mosaic for variant PubMed: Betsalel 2008 - - Germline, Somatic - - - - - Gajja Salomons
+/+ 5 7 c.1067G>T r.(?) p.(Gly356Val) - pathogenic (recessive) g.152958967G>T g.153693512G>T - - SLC6A8_003060 - PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
+/+ 4 7 c.1079_1081del r.(?) p.(Phe360del) - pathogenic (recessive) g.152958979_152958981del g.153693524_153693526del 1079_1081delTCT - SLC6A8_003061 - PubMed: Sempere 2009 - - Germline - - - - - Gajja Salomons
+/+ 3 7 c.1090G>T r.(?) p.(Gly364Cys) - pathogenic (recessive) g.152958990G>T g.153693535G>T - - SLC6A8_003062 - PubMed: van de Kamp 2013 - - Germline - - - - - Gajja Salomons
+/+, ?/+? 4 7 c.1105G>A r.(?) p.(Glu369Lys) - pathogenic (recessive), VUS g.152959005G>A g.153693550G>A - - SLC6A8_003063 - - - - Germline - - - - - Gajja Salomons
-?/. 1 - c.1127A>G r.(?) p.(Lys376Arg) - likely benign g.152959027A>G - SLC6A8(NM_005629.3):c.1127A>G (p.K376R) - SLC6A8_003246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.1136_1137del r.(?) p.(Glu379Valfs*85) - pathogenic (recessive) g.152959036_152959037del g.153693581_153693582del 1136_1137delAG - SLC6A8_003168 - - - - Germline - - - - - Gajja Salomons
+/+ 1 7 c.1141G>A r.(?) p.(Gly381Arg) - pathogenic (recessive) g.152959041G>A g.153693586G>A - - SLC6A8_003149 - - - - Germline - - - - - Gajja Salomons
+/+ 7 7 c.1141G>C r.[1141G>C, 1129_1141del] p.[Gly381Arg, Val377Glyfs*15] - pathogenic (recessive) g.152959041G>C g.153693586G>C - - SLC6A8_003064 1 more item PubMed: Hahn 2002, PubMed: Betsalel 2010 - - Germline - - - - - Gajja Salomons
-?/-? 1 7i c.1141+18G>A r.(?) p.(=) - likely benign g.152959059G>A g.153693604G>A - - SLC6A8_003065 No effect predicted by 5 splice predictors, 3/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-/-, -/. 2 7i c.1141+37G>A r.(=), r.(?) p.(=) - benign g.152959078G>A g.153693623G>A IVS7+37G>A - SLC6A8_003066 detected in control(s); no effect predicted by 5 splice predictors PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - rs2071028 Germline - 9/276 controls rs2071028 - - Andreas Laner, Gajja Salomons
-/-, ?/. 2 7i c.1141+87A>G r.(=), r.(?) p.(=) - benign, VUS g.152959128A>G g.153693673A>G IVS7+87A>G - SLC6A8_003067 detected in control(s); no effect predicted by 5 splice predictors PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - - Germline - 6/276 controls rs41302172 - - Andreas Laner, Gajja Salomons
-/- 1 7i c.1142-151_1142-152del r.= p.= - benign g.? - IVS7-151_152delGA - SLC6A8_003074 1 more item PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 7i c.1142-130C>T r.(?) p.(=) - likely benign g.152959230C>T g.153693775C>T - - SLC6A8_003073 No effect predicted by 5 splice predictors, 13/1900 MR patients PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 7i c.1142-122C>T r.(?) p.(=) - likely benign g.152959238C>T g.153693783C>T - - SLC6A8_003072 No effect predicted by 5 splice predictors, 2/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 7i c.1142-100G>A r.(?) p.(=) - likely benign g.152959260G>A g.153693805G>A - - SLC6A8_003071 No effect predicted by 5 splice predictors, 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-?/-? 1 7i c.1142-98C>A r.(?) p.(=) - likely benign g.152959262C>A g.153693807C>A IVS7-99C>A - SLC6A8_003070 No effect predicted by 5 splice predictors , 1/1900 MR patients PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
-/- 1 7i c.1142-35G>A r.(?) p.(=) - benign g.152959325G>A g.153693870G>A IVS7-35G>A - SLC6A8_003069 Detected in control(s). No effect predicted by 5 splice predictors PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - - Germline - 2/276 controls - - - Gajja Salomons
-?/-? 1 7i c.1142-19G>A r.(?) p.(=) - likely benign g.152959341G>A g.153693886G>A - - SLC6A8_003068 No effect predicted by 5 splice predictors, 2/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - - - Gajja Salomons
+/+ 1 7i_13_ c.1142-1_1908+1del r.(?) p.? - pathogenic (recessive) g.152959359_152960670del - - - SLC6A8_003075 1 more item PubMed: Anselm 2006 - - Germline - - - - - Gajja Salomons
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