All variants in the SLC6A8 gene

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

426 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
./. - c.-243224_*649237dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/. 1i c.-5A>G r.(=) p.(=) - VUS g.152954025A>G g.153688570A>G - - SLC6A8_003188 also found in wild type - - rs384573 Germline - - - 0 - Andreas Laner
-/. - c.-5A>G r.(?) p.(=) - benign g.152954025A>G g.153688570A>G SLC6A8(NM_005629.4):c.-5A>G - SLC6A8_003188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-5A>G r.(?) p.(=) - benign g.152954025A>G g.153688570A>G SLC6A8(NM_005629.4):c.-5A>G - SLC6A8_003188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-5A>G r.(?) p.(=) - benign g.152954025A>G g.153688570A>G SLC6A8(NM_005629.4):c.-5A>G - SLC6A8_003188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ _1_13_ c.-1_*1del r.(?) p.0? - pathogenic (recessive) g.152954029_152960670del g.153688574_153695215del - - SLC6A8_003139 - PubMed: Anselm 2006 - - Germline - - - 0 - Gajja Salomons
+/. - 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 - - - 0 - Johan den Dunnen
+/. 4i_13_ c.778-36_*1379{0} r.? p.? - pathogenic (recessive) g.152958460_152977354del g.153693005_153711899del - - BCAP31_000042 - PubMed: Osaka 2012 - - De novo - - - 0 - Johan den Dunnen
-/- 1 c.11A>G r.(?) p.(Lys4Arg) - benign g.152954040A>G g.153688585A>G - - SLC6A8_003003 proven non-pathogenic variant; 1/1900 MR patients PubMed: Clark 2006, PubMed: Rosenberg 2007 - - Germline - 0/628 controls SacI 0 - Gajja Salomons
-/- 1 c.11A>G r.(?) p.Lys4Arg - NA g.152954040A>G g.153688585A>G - - SLC6A8_003003 overexpression in SLC6A8 deficient fibroblasts restored creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
-/- 1 c.76G>A r.(?) p.(Gly26Arg) - benign g.152954105G>A g.153688650G>A - - SLC6A8_003005 proven non-pathogenic variant; 1/1900 MR patients PubMed: Clark 2006, PubMed: Rosenberg 2007 - - Germline - 0/655 controls AvaI 0 - Gajja Salomons
-/- 1 c.76G>A r.(?) p.Gly26Arg - NA g.152954105G>A g.153688650G>A - - SLC6A8_003005 overexpression in SLC6A8 deficient fibroblasts restored creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
-?/. - 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_Utrecht
-?/. - 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
-?/. - 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
-?/. - 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
+/+ 1 c.219del r.(?) p.(Asn74Thrfs*23) - pathogenic (recessive) g.152954248del g.153688793del 219delC - SLC6A8_003008 - PubMed: Dezortova 2008 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.219del r.(?) p.(Asn74Thrfs*23) - pathogenic (recessive) g.152954248del g.153688793del 219delC - SLC6A8_003008 - PubMed: Dezortova 2008 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.259G>A r.(?) p.(Gly87Arg) - pathogenic (recessive) g.152954288G>A g.153688833G>A - - SLC6A8_003009 proven pathogenic variant PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.259G>A r.(?) p.Gly87Arg - NA g.152954288G>A g.153688833G>A - - SLC6A8_003009 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
+/+ 1i c.262_262+1delinsTT r.spl p.? - pathogenic (recessive) g.152954291_152954292delinsTT g.153688836_153688837delinsTT - - SLC6A8_003010 This mutation has been detected de novo in at least one patient with SLC6A8 deficiency. 5 out of 5 splice predictors predict the complete loss of the splice site. Journal: Wilcken 2008, PubMed: Betsalel 2010 - - De novo - - - 0 - Gajja Salomons
+/? 1i c.262+1G>T r.spl p.? - pathogenic (recessive) g.152954292G>T g.153688837G>T - - SLC6A8_003169 - - - - Germline - - - 0 - Gajja Salomons
-/. 1i c.262+26T>C r.(=) p.(=) - benign g.152954317T>C g.153688862T>C - - SLC6A8_003011 - - - rs192387453 Germline - - - 0 - Andreas Laner
-/- 1i c.262+26T>C 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 - - Germline - 6/280 controls - 0 - Gajja Salomons
-?/-? 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 - 0 - Gajja Salomons
-/- 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 - 0 - Gajja Salomons
?/. 1i c.263-95G>A r.(=) p.(=) - VUS g.152955735G>A g.153690280G>A - - SLC6A8_003174 - - - - Germline - - - 0 - Andreas Laner
-?/-? 1i c.263-95G>A r.(?) p.(=) - likely benign g.152955735G>A g.153690280G>A - - SLC6A8_003174 - - - - Germline - - - 0 - Gajja Salomons
+/+ 1i c.263-2A>G r.263_325del p.Gly88_Leu108del - pathogenic (recessive) g.152955828A>G g.153690373A>G r.263_328del - SLC6A8_003015 cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site. PubMed: Schiaffino 2005, PubMed: Betsalel 2010 - - Germline - - - 0 - Gajja Salomons
+/+ 1i c.263-2A>G r.263_325del p.Gly88_Leu108del - pathogenic (recessive) g.152955828A>G g.153690373A>G r.263_328del - SLC6A8_003015 cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site. PubMed: Schiaffino 2005, PubMed: Betsalel 2010 - - Germline - - - 0 - Gajja Salomons
+/+ 1i c.263-1G>C r.263_325del p.Gly88_Leu108del - pathogenic (recessive) g.152955829G>C g.153690374G>C - - SLC6A8_003014 This mutation has been detected de novo in at least one patient with SLC6A8 deficiency. cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site. PubMed: Betsalel 2010 - - De novo - - - 0 - Gajja Salomons
+/+ 2 c.291_292insAGGG r.(?) p.(Ala98Argfs*92) - pathogenic (recessive) g.152955858_152955859insAGGG g.153690403_153690404insAGGG - - SLC6A8_003016 - PubMed: van de Kamp 2013 - - Germline - - - 0 - Gajja Salomons
-?/-? 2 c.306A>G r.(?) p.(=) - likely benign g.152955873A>G g.153690418A>G - - SLC6A8_003017 No effect predicted by 5 splice predictors. , 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
-?/. - c.306A>G r.(?) p.(Gly102=) - likely benign g.152955873A>G - SLC6A8(NM_005629.3):c.306A>G (p.G102=) - SLC6A8_003017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.Phe107del - NA g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
+/. - c.321_323del r.(?) p.(Phe107del) - pathogenic g.152955888_152955890del g.153690433_153690435del 316_318del - SLC6A8_003018 - PubMed: Zhu 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - 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
?/+? 2 c.370T>C r.(?) p.(Trp124Arg) - VUS g.152955937T>C g.153690482T>C - - SLC6A8_003019 variant not detected in grandmother PubMed: van de Kamp 2013 - - Germline - - - 0 - Gajja Salomons
?/+? 2 c.370T>C r.(?) p.(Trp124Arg) - VUS g.152955937T>C g.153690482T>C - - SLC6A8_003019 variant not detected in mother, most likely de novo in this heterozygote PubMed: van de Kamp 2013 - - De novo - - - 0 - Gajja Salomons
?/+? 2 c.370T>C r.(?) p.(Trp124Arg) - VUS g.152955937T>C g.153690482T>C - - SLC6A8_003019 - PubMed: van de Kamp 2013 - - Germline - - - 0 - Gajja Salomons
-?/-? 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 - 0 - Gajja Salomons
-?/-? 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 - 0 - Gajja Salomons
-?/-? 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 - 0 - Gajja Salomons
?/. 2i c.394+88G>A r.(=) p.(=) - VUS g.152956049G>A g.153690594G>A - - SLC6A8_003024 - - - rs6643763 Germline - - - 0 - Andreas Laner
?/. 2i c.394+88G>A r.(=) p.(=) - VUS g.152956049G>A g.153690594G>A - - SLC6A8_003024 - - - - Germline - - - 0 - Andreas Laner
-/- 2i c.394+88G>A r.(?) p.(=) - benign 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 - - Germline - 1/281 controls - 0 - Gajja Salomons
-/- 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 0 - Gajja Salomons
+?/+? 3 c.395G>T r.(?) p.(Gly132Val) - likely pathogenic (recessive) g.152956759G>T g.153691304G>T - - SLC6A8_003025 - PubMed: Lion-Francois 2006 - - Germline - - - 0 - Gajja Salomons
+?/+? 3 c.395G>T r.(?) p.(Gly132Val) - likely pathogenic (recessive) g.152956759G>T g.153691304G>T - - SLC6A8_003025 - PubMed: Lion-Francois 2006 - - Germline - - - 0 - Gajja Salomons
+?/+? 3 c.395G>T r.(?) p.(Gly132Val) - likely pathogenic (recessive) g.152956759G>T g.153691304G>T - - SLC6A8_003025 - PubMed: Lion-Francois 2006 - - Germline - - - 0 - Gajja Salomons
+?/+? 3 c.395G>T r.(?) p.(Gly132Val) - likely pathogenic (recessive) g.152956759G>T g.153691304G>T - - SLC6A8_003025 - PubMed: Lion-Francois 2006 - - Germline - - - 0 - Gajja Salomons
?/. - 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 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 - - - 0 - Gajja Salomons
+/+ 3 c.428_430del r.(?) p.(Tyr143del) - pathogenic (recessive) g.152956792_152956794del g.153691337_153691339del 428_430delACT - SLC6A8_003135 - PubMed: van de Kamp 2013 - - Germline - - - 0 - Gajja Salomons
+/+ 3 c.428_430del r.(?) p.(Tyr143del) - pathogenic (recessive) g.152956792_152956794del g.153691337_153691339del 428_430delACT - SLC6A8_003135 - PubMed: van de Kamp 2013 - - Germline - - - 0 - Gajja Salomons
+/+ 3 c.462G>A r.(?) p.(Trp154*) - pathogenic (recessive) g.152956826G>A g.153691371G>A - - SLC6A8_003026 - PubMed: Fons 2009 - - Germline - - - 0 - Gajja Salomons
+/+ 3 c.467_469del r.(?) p.(Phe156del) - pathogenic (recessive) g.152956831_152956833del g.153691376_153691378del 467_469delTCT - SLC6A8_003140 - - - - Germline - - - 0 - Gajja Salomons
+/+ 3 c.467_469del r.(?) p.(Phe156del) - pathogenic (recessive) g.152956831_152956833del g.153691376_153691378del 467_469delTCT - SLC6A8_003140 - - - - Somatic - - - 0 - Gajja Salomons
-?/-? 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 - 0 - Gajja Salomons
-?/. - 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
-?/. - 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
+/. 3 c.541T>C r.(?) p.(Cys181Arg) - pathogenic g.152956905T>C g.153691450T>C - - SLC6A8_003028 - - - - Germline - - - 0 - Andreas Laner
?/+? 3 c.541T>C r.(?) p.(Cys181Arg) - 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 - myoblasts and muscle biopsy present - 0 - Gajja Salomons
-?/. - c.544G>A r.(?) p.(Val182Met) - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/- 3 c.544G>A r.(?) p.(Val182Met) - benign g.152956908G>A g.153691453G>A - - SLC6A8_003029 Detected in control(s). No effect predicted by 5 splice predictors. In one male MR with this variant a normal urinary cr/crn was detected , 0/1900 MR patients PubMed: Clark 2006 - - Germline - 1/635 controls Hpy;Ch4V 0 - Gajja Salomons
-?/. - c.544G>A r.(?) p.(Val182Met) - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 3 c.570_571del r.(?) p.(Ala191Glnfs*10) - pathogenic (recessive) g.152956934_152956935del g.153691479_153691480del 568_569delTG - SLC6A8_003030 - Journal: De Kort 2006 - - Germline - - - 0 - Gajja Salomons
+/+ 3 c.570_571del r.(?) p.(Ala191Glnfs*10) - pathogenic (recessive) g.152956934_152956935del g.153691479_153691480del 568_569delTG - SLC6A8_003030 - Journal: De Kort 2006 - - Germline - - - 0 - Gajja Salomons
+/. - c.570_571del r.(?) p.(Ala191GlnfsTer10) - pathogenic g.152956934_152956935del - SLC6A8(NM_005629.4):c.570_571delTG (p.A191Qfs*10) - SLC6A8_003030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/-? 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 - 0 - Gajja Salomons
-?/. - 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
+/+ 3 c.619C>T r.(?) p.(Arg207Trp) - pathogenic (recessive) g.152956983C>T g.153691528C>T - - SLC6A8_003182 overexpression PubMed: Ardon 2016 - - Germline - - - 0 - Vered Raz
./. - 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 - - 0 - Johan den Dunnen
-?/. - c.644+9G>A r.(=) p.(=) - likely benign g.152957017G>A g.153691562G>A SLC6A8(NM_005629.4):c.644+9G>A - SLC6A8_003032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/-? 3i c.644+9G>A r.(?) p.(=) - likely benign g.152957017G>A g.153691562G>A - - SLC6A8_003032 Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 2/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/. - c.645-1G>A r.spl? p.? - pathogenic g.152957429G>A g.153691974G>A - - SLC6A8_003220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 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 - - - 0 - Gajja Salomons
?/+? 4 c.729G>T r.(?) p.(Trp243Cys) - VUS g.152957514G>T g.153692059G>T - - SLC6A8_003034 - PubMed: van de Kamp 2013 - - Germline - - - 0 - Gajja Salomons
-/. - c.777+4C>T r.spl? p.? - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/-? 4i c.777+4C>T r.(?) p.(=) - likely benign g.152957566C>T g.153692111C>T - - SLC6A8_003035 Mild effect (<10% reduced change) predicted by 4 out of 5 splice predictors. However, no splice errors detected by overexpression of minigene., 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
-?/. - c.777+4C>T r.spl? p.? - likely benign g.152957566C>T - SLC6A8(NM_005629.3):c.777+4C>T, SLC6A8(NM_005629.4):c.777+4C>T - SLC6A8_003035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - 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 - - - 0 - VKGL-NL_Utrecht
?/. - 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 - - - 0 - VKGL-NL_Leiden
+/+ 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 - - - 0 - Gajja Salomons
+/+ 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 - - - 0 - Gajja Salomons
+/+ 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 - - - 0 - Gajja Salomons
-?/-? 5 c.780C>T r.(?) p.(=) - likely benign g.152958498C>T g.153693043C>T - - SLC6A8_003039 Effect (4% [1,00 > 0,96; range 0 - 1,00], 32% [0,22 > 0,15; range 0 - 1,00], 20% [3,3 > 2,67; range 0 - 13,00] reduced change) predicted by 3 out of 5 splice predictors. 1/1900 MR patients PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 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 PubMed: degrauw 2002 - - Somatic - - - 0 - Gajja Salomons
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