Full data view for gene SLC6A1

Information The variants shown are described using the NM_003042.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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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.6G>A r.(?) p.(Ala2=) Unknown - likely benign g.11058903G>A g.11017217G>A SLC6A1(NM_003042.3):c.6G>A (p.A2=), SLC6A1(NM_003042.4):c.6G>A (p.A2=) - SLC6A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6G>A r.(?) p.(Ala2=) Unknown - likely benign g.11058903G>A - SLC6A1(NM_003042.3):c.6G>A (p.A2=), SLC6A1(NM_003042.4):c.6G>A (p.A2=) - SLC6A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13G>C r.(?) p.(Gly5Arg) Unknown - VUS g.11058910G>C - SLC6A1(NM_003042.3):c.13G>C (p.G5R) - SLC6A1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.130C>T r.(?) p.(Arg44Trp) Unknown - likely pathogenic g.11059027C>T g.11017341C>T - - SLC6A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.131G>A r.(?) p.(Arg44Gln) Unknown - pathogenic g.11059028G>A g.11017342G>A SLC6A1(NM_003042.4):c.131G>A (p.R44Q) - SLC6A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.131G>A r.(?) p.(Arg44Gln) Unknown - pathogenic g.11059028G>A - SLC6A1(NM_003042.4):c.131G>A (p.R44Q) - SLC6A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148_151delinsTCGTGTC r.(?) p.(Arg50_Phe51delinsSerCysLeu) Unknown - pathogenic g.11059045_11059048delinsTCGTGTC g.11017359_11017362delinsTCGTGTC - - SLC6A1_000039 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.166T>C r.(?) p.(Ser56Pro) Unknown - pathogenic g.11059063T>C g.11017377T>C - - SLC6A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.205A>G r.(?) p.(Arg69Gly) Unknown - likely pathogenic g.11059102A>G g.11017416A>G SLC6A1(NM_003042.3):c.205A>G (p.(Arg69Gly)) - SLC6A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.223G>A r.(?) p.(Gly75Arg) Unknown - pathogenic g.11059120G>A - - - SLC6A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.256T>C r.(?) p.(Tyr86His) Unknown ACMG likely pathogenic (dominant) g.11059546T>C - - - SLC6A1_000052 ACMG: PS2, PM2_SUP, PP2, PP3 - - - De novo - - - - - DNA SEQ-NG-I Blood WES MAE 188413 - - F ? Germany - - - - - 1 Andreas Laner
+?/. - c.257A>G r.(?) p.(Tyr86Cys) Unknown - likely pathogenic g.11059547A>G - SLC6A1(NM_003042.4):c.257A>G (p.Y86C) - SLC6A1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.283dup r.(?) p.(Val95GlyfsTer112) Unknown - pathogenic g.11059573dup g.11017887dup SLC6A1(NM_003042.3):c.283dupG (p.V95Gfs*112) - SLC6A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.314G>T r.(?) p.(Gly105Val) Unknown ACMG likely pathogenic g.11059604G>T g.11017918G>T - - SLC6A1_000035 ACMG: PM2,PM5,PP2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.336del r.(?) p.(Leu113Ter) Unknown - pathogenic g.11059626del g.11017940del SLC6A1(NM_003042.3):c.336delG (p.L113*) - SLC6A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.418_420del r.(?) p.(Tyr140del) Unknown ACMG pathogenic (dominant) g.11060331_11060333del g.11018645_11018647del NM_001348250.2:c.418_420del - SLC6A1_000062 ACMG PVS1,PM2,PM4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat44 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.456C>A r.(?) p.(Tyr152Ter) Unknown - likely pathogenic g.11060369C>A g.11018683C>A - - SLC6A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.515G>A r.(?) p.(Arg172His) Unknown - likely benign g.11061942G>A - SLC6A1(NM_003042.3):c.515G>A (p.(Arg172His)) - SLC6A1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.518G>C r.(?) p.(Cys173Ser) Unknown - pathogenic g.11061945G>C g.11020259G>C NM_001348250:c.518G>C - SLC6A1_000073 - PubMed: Salinas 2020 RCV001004737.1 - Unknown - - - - - DNA SEQ-NG - gene panel ? Pat61 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
-?/. - c.582G>A r.(?) p.(Glu194=) Unknown - likely benign g.11064022G>A g.11022336G>A SLC6A1(NM_003042.3):c.582G>A (p.E194=, p.(Glu194Glu)), SLC6A1(NM_003042.4):c.582G>A (p.E194=) - SLC6A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582G>A r.(?) p.(Glu194=) Unknown - likely benign g.11064022G>A - SLC6A1(NM_003042.3):c.582G>A (p.E194=, p.(Glu194Glu)), SLC6A1(NM_003042.4):c.582G>A (p.E194=) - SLC6A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582G>A r.(?) p.(Glu194=) Unknown - likely benign g.11064022G>A - SLC6A1(NM_003042.3):c.582G>A (p.E194=, p.(Glu194Glu)), SLC6A1(NM_003042.4):c.582G>A (p.E194=) - SLC6A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.631C>T r.(?) p.(Arg211Cys) Unknown - likely pathogenic g.11064071C>T g.11022385C>T - - SLC6A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640_658del r.(?) p.(Leu214Serfs*32) Unknown - VUS g.11064080_11064098del - SLC6A1(NM_003042.4):c.640_658delCTGGCCATCACGCTGGCCA (p.L214Sfs*32) - SLC6A1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651G>A r.(?) p.(Thr217=) Unknown - likely benign g.11064091G>A g.11022405G>A SLC6A1(NM_003042.3):c.651G>A (p.T217=), SLC6A1(NM_003042.4):c.651G>A (p.T217=) - SLC6A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651G>A r.(?) p.(Thr217=) Unknown - likely benign g.11064091G>A - SLC6A1(NM_003042.3):c.651G>A (p.T217=), SLC6A1(NM_003042.4):c.651G>A (p.T217=) - SLC6A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.690G>A r.(?) p.(Trp230*) Unknown - likely pathogenic g.11064130G>A - - - SLC6A1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.713_714del r.(?) p.(Lys238SerfsTer43) Unknown - pathogenic g.11064153_11064154del g.11022467_11022468del SLC6A1(NM_003042.4):c.713_714delAG (p.K238Sfs*43) - SLC6A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.737A>G r.(?) p.(Tyr246Cys) Unknown - VUS g.11067157A>G g.11025471A>G - - SLC6A1_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_139:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.737A>G r.(?) p.(Tyr246Cys) Unknown - VUS g.11067157A>G - - - SLC6A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.779C>T r.(?) p.(Thr260Met) Unknown - likely benign g.11067199C>T - SLC6A1(NM_003042.3):c.779C>T (p.(Thr260Met)) - SLC6A1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.799G>C r.(?) p.(Gly267Arg) Unknown ACMG likely pathogenic (dominant) g.11067219G>C g.11025533G>C - - SLC6A1_000060 ACMG: PS2_MOD, PP3_MOD, PM2_SUP, PP2; confirmed de novo in trio exome - - - De novo - - - - - DNA SEQ-NG-I Blood - MAE 257545 - - M no Germany - - - - - 1 Andreas Laner
-?/. - c.801C>T r.(?) p.(Gly267=) Unknown - likely benign g.11067221C>T - SLC6A1(NM_003042.3):c.801C>T (p.G267=) - SLC6A1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.801del r.(?) p.(Ile268SerfsTer36) Parent #1 - likely pathogenic (dominant) g.11067221del g.11025535del 801delC - SLC6A1_000063 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED3384.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
./. - c.830G>A r.(?) p.(Arg277His) Unknown - VUS g.11067250G>A g.11025564G>A - - SLC6A1_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_747:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.846C>T r.(?) p.(Ser282=) Unknown - likely benign g.11067266C>T g.11025580C>T SLC6A1(NM_003042.3):c.846C>T (p.S282=), SLC6A1(NM_003042.4):c.846C>T (p.S282=) - SLC6A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.846C>T r.(?) p.(Ser282=) Unknown - likely benign g.11067266C>T - SLC6A1(NM_003042.3):c.846C>T (p.S282=), SLC6A1(NM_003042.4):c.846C>T (p.S282=) - SLC6A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850-4A>G r.spl? p.? Unknown - likely benign g.11067455A>G - SLC6A1(NM_003042.4):c.850-4A>G - SLC6A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.850-1G>C r.spl? p.? Unknown - pathogenic g.11067458G>C g.11025772G>C SLC6A1(NM_003042.3):c.850-1G>C - SLC6A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.855G>A r.(?) p.(Trp285*) Unknown ACMG likely pathogenic (dominant) g.11067464G>A - - - SLC6A1_000059 ACMG: PVS1, PM2_SUP, PS4_SUP - VCV001439096.2 - Germline ? - - - - DNA SEQ-NG-I Blood - MAE 214297 - - F no Germany - - - - - 1 Andreas Laner
+?/. - c.863C>A r.(?) p.(Ala288Glu) Unknown - likely pathogenic g.11067472C>A g.11025786C>A SLC6A1(NM_003042.3):c.863C>A (p.A288E) - SLC6A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.863C>T r.(?) p.(Ala288Val) Unknown ACMG pathogenic (dominant) g.11067472C>T g.11025786C>T - - SLC6A1_000065 ACMG: PS2, PP3_STR, PS4_MOD, PM2_SUP, PM5_SUP, PP2 PMID: 22495306, 24859339, 25865495, 29315614; Invitae, MGZ VCV000192372.16 - De novo - - - - - DNA SEQ-NG-I Blood - MAE 283694 - - M ? ? (unknown) - - - - - 1 Andreas Laner
+?/. - c.873G>C r.(?) p.(Gln291His) Unknown - likely pathogenic g.11067482G>C - SLC6A1(NM_003042.4):c.873G>C (p.(Gln291His)) - SLC6A1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885A>T r.(?) p.(Ser295=) Unknown - likely benign g.11067494A>T g.11025808A>T SLC6A1(NM_003042.4):c.885A>T (p.S295=) - SLC6A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.888C>T r.(?) p.(Tyr296=) Unknown - likely benign g.11067497C>T - SLC6A1(NM_003042.3):c.888C>T (p.Y296=) - SLC6A1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.889G>A r.(?) p.(Gly297Arg) Unknown - pathogenic g.11067498G>A g.11025812G>A SLC6A1(NM_003042.4):c.889G>A (p.G297R) - SLC6A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.889G>A r.(?) p.(Gly297Arg) Unknown - pathogenic g.11067498G>A g.11025812G>A SLC6A1(NM_003042.4):c.889G>A (p.G297R) - SLC6A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.890G>A r.(?) p.(Gly297Glu) Unknown - likely pathogenic g.11067499G>A - - - SLC6A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.893T>C r.(?) p.(Leu298Pro) Unknown - pathogenic g.11067502T>C g.11025816T>C - - SLC6A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.913G>T r.(?) p.(Ala305Ser) Unknown - VUS g.11067522G>T - SLC6A1(NM_003042.3):c.913G>T (p.(Ala305Ser)) - SLC6A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.919G>A r.(?) p.(Gly307Arg) Unknown - likely pathogenic g.11067528G>A - - - SLC6A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.938A>G r.(?) p.(His313Arg) Unknown - VUS g.11067547A>G - SLC6A1(NM_003042.3):c.938A>G (p.(His313Arg)) - SLC6A1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.953+1G>C r.spl? p.? Unknown - likely pathogenic g.11067563G>C - - - SLC6A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987C>T r.(?) p.(Cys329=) Unknown - likely benign g.11067954C>T - SLC6A1(NM_003042.4):c.987C>T (p.C329=) - SLC6A1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999C>T r.(?) p.(Phe333=) Unknown - likely benign g.11067966C>T - SLC6A1(NM_003042.4):c.999C>T (p.F333=) - SLC6A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1024G>A r.(?) p.(Val342Met) Unknown - pathogenic g.11067991G>A g.11026305G>A - - SLC6A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1070C>T r.(?) p.(Ala357Val) Unknown - pathogenic g.11068037C>T g.11026351C>T - - SLC6A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1070C>T r.(?) p.(Ala357Val) Unknown - likely pathogenic (dominant) g.11068037C>T - - - SLC6A1_000015 - - - - De novo - - - - - DNA SEQ-NG - WES ID 244P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
-?/. - c.1079-6G>A r.(=) p.(=) Unknown - likely benign g.11070415G>A g.11028729G>A SLC6A1(NM_003042.4):c.1079-6G>A - SLC6A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1084G>A r.(?) p.(Gly362Arg) Unknown - pathogenic g.11070426G>A g.11028740G>A SLC6A1(NM_003042.3):c.1084G>A (p.(Gly362Arg)), SLC6A1(NM_003042.4):c.1084G>A (p.G362R) - SLC6A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1084G>A r.(?) p.(Gly362Arg) Unknown - likely pathogenic g.11070426G>A g.11028740G>A SLC6A1(NM_003042.3):c.1084G>A (p.(Gly362Arg)), SLC6A1(NM_003042.4):c.1084G>A (p.G362R) - SLC6A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1163T>G r.(?) p.(Met388Arg) Unknown - likely pathogenic g.11070505T>G - - - SLC6A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1191+1G>T r.spl? p.? Unknown - pathogenic g.11070534G>T g.11028848G>T - - SLC6A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1191+18G>A r.(=) p.(=) Unknown - likely benign g.11070551G>A - SLC6A1(NM_003042.4):c.1191+18G>A - SLC6A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192-1G>T r.spl? p.? Unknown - VUS g.11070906G>T g.11029220G>T SLC6A1(NM_003042.3):c.1192-1G>T (p.?) - SLC6A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1243C>A r.(?) p.(Leu415Ile) Unknown - likely benign g.11070958C>A g.11029272C>A SLC6A1(NM_003042.3):c.1243C>A (p.L415I), SLC6A1(NM_003042.4):c.1243C>A (p.L415I) - SLC6A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1243C>A r.(?) p.(Leu415Ile) Unknown - likely benign g.11070958C>A - SLC6A1(NM_003042.3):c.1243C>A (p.L415I), SLC6A1(NM_003042.4):c.1243C>A (p.L415I) - SLC6A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1250G>A r.(?) p.(Arg417His) Unknown - likely benign g.11070965G>A - SLC6A1(NM_003042.4):c.1250G>A (p.(Arg417His), p.R417H) - SLC6A1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1250G>A r.(?) p.(Arg417His) Unknown - likely benign g.11070965G>A - SLC6A1(NM_003042.4):c.1250G>A (p.(Arg417His), p.R417H) - SLC6A1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1256G>A r.(?) p.(Arg419His) Unknown - likely benign g.11070971G>A - SLC6A1(NM_003042.3):c.1256G>A (p.(Arg419His)) - SLC6A1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1317C>T r.(?) p.(Ile439=) Unknown - likely benign g.11071032C>T - SLC6A1(NM_003042.3):c.1317C>T (p.I439=) - SLC6A1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1323+888_1323+889del r.(=) p.(=) Both (homozygous) - VUS g.11071926_11071927del g.11030240_11030241del - - SLC6A1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1325G>T r.(?) p.(Gly442Val) Unknown - VUS g.11072864G>T - SLC6A1(NM_003042.3):c.1325G>T (p.G442V) - SLC6A1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1325G>T r.1325G>T p.Gly442Val Unknown - VUS g.11072864G>T g.11031178G>T - - SLC6A1_000044 in vitro analysis 293T cells mini-gene exon trapping assay: no effect on RNA - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1377C>G r.(?) p.(Ser459Arg) Unknown - likely pathogenic g.11072916C>G - - - SLC6A1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1427-4del r.spl? p.? Unknown - VUS g.11075321del g.11033635del - - SLC6A1_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_479:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
+?/. - c.1479C>A r.(?) p.(Cys493Ter) Unknown - likely pathogenic g.11075377C>A g.11033691C>A - - SLC6A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1527G>A r.(?) p.(Ala509=) Unknown - VUS g.11075425G>A g.11033739G>A - - SLC6A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1528-7T>A r.(=) p.(=) Unknown - VUS g.11076210T>A g.11034524T>A SLC6A1(NM_003042.4):c.1528-7T>A - SLC6A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1528-1G>C r.spl p.? Unknown - likely pathogenic (dominant) g.11076216G>C g.11034530G>C - - SLC6A1_000064 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2064.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1531G>A r.(?) p.(Val511Met) Unknown - pathogenic g.11076220G>A - - - SLC6A1_000049 - - - rs1064794981 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1595G>A r.(?) p.(Trp532Ter) Unknown - pathogenic g.11076284G>A - SLC6A1(NM_003042.4):c.1595G>A (p.W532*) - SLC6A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1693C>T r.(?) p.(Gln565*) Unknown - VUS g.11076382C>T - SLC6A1(NM_003042.3):c.1693C>T (p.(Gln565*)) - SLC6A1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1696-14C>G r.(=) p.(=) Unknown - likely benign g.11078534C>G g.11036848C>G - - SLC6A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1702C>T r.(?) p.(Gln568Ter) Unknown - likely pathogenic g.11078554C>T g.11036868C>T - - SLC6A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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