Full data view for gene SLC9A6

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

85 entries on 1 page. Showing entries 1 - 85.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 1_1i c.-6_325+5del - r.0? p.0? Unknown g.135067656_135067991del g.135985497_135985832del - - SLC9A6_000013 - - - - Unknown ? - - 0 - DNA SEQ-NG-I - - MRX;IDX - - - M - ? (unknown) ? - 0 - - 1 Andreas Tzschach
-?/. - c.25G>T likely benign r.(?) p.(Ala9Ser) Unknown g.135067686G>T - SLC9A6(NM_001042537.1):c.25G>T (p.A9S) - SLC9A6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.25G>T benign r.(?) p.(Ala9Ser) Unknown g.135067686G>T - SLC9A6(NM_001042537.1):c.25G>T (p.A9S) - SLC9A6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.25G>T VUS r.(?) p.(Ala9Ser) Unknown g.135067686G>T - SLC9A6(NM_001042537.1):c.25G>T (p.A9S) - SLC9A6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.148G>T likely benign r.(?) p.(Ala50Ser) Unknown g.135067809G>T - SLC9A6(NM_001042537.1):c.148G>T (p.A50S) - SLC9A6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.190G>T - r.(?) p.(Glu64*) Maternal (confirmed) g.135067851G>T - - - SLC9A6_000040 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam8 PubMed: Pescosolido 2014 2-generation family, 2 affected males, 2 unaffected carrier females M no United States - - 0 - - 4 Johan den Dunnen
+?/. - c.213C>A likely pathogenic r.(?) p.(Ser71Arg) Unknown g.135067874C>A - SLC9A6(NM_001042537.1):c.213C>A (p.S71R) - SLC9A6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223C>G VUS r.(?) p.(Leu75Val) Unknown g.135067884C>G - SLC9A6(NM_001042537.1):c.223C>G (p.Leu75Val) - SLC9A6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.326-166G>A benign r.(=) p.(=) Unknown g.135076779G>A - SLC9A6(NM_001042537.1):c.326-166G>A - SLC9A6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.429+200G>A benign r.(=) p.(=) Unknown g.135077248G>A - SLC9A6(NM_001042537.1):c.525+104G>A - SLC9A6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.430-1G>A - r.spl? p.? Unknown g.135080266G>A - - - SLC9A6_000041 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam6 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - 1 Johan den Dunnen
./. - c.444_451dup - r.(?) p.(Phe151*) Unknown g.135080281_135080288dup - 540_547dupAGAAGTAT - SLC9A6_000042 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam5 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - 1 Johan den Dunnen
?/. 3i c.508-7_508-6dup - r.(?) p.(=) Unknown g.135080634_135080635dup g.135998475_135998476dup 508-6_508-5insTT - SLC9A6_000015 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 3i c.508-7_508-6dup - r.(?) p.(=) Unknown g.135080634_135080635dup g.135998475_135998476dup 508-6_508-5insTT - SLC9A6_000015 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 3i c.508-7_508-6dup - r.(?) p.(=) Unknown g.135080634_135080635dup g.135998475_135998476dup 508-18_508-17insTT - SLC9A6_000015 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.508-6del benign r.(=) p.(=) Unknown g.135080635del - SLC9A6(NM_001042537.1):c.604-6delT - SLC9A6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3i c.508-6dup - r.(?) p.(=) Unknown g.135080635dup g.135998476dup - - SLC9A6_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 3i c.508-6dup - r.(?) p.(=) Maternal (inferred) g.135080635dup g.135998476dup 508-18_508-17insT - SLC9A6_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 3i c.508-6dup - r.(?) p.(=) Unknown g.135080635dup g.135998476dup - - SLC9A6_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 3i c.508-6dup - r.(?) p.(=) Unknown g.135080635dup g.135998476dup 508-18_508-17insT - SLC9A6_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.508-6dup benign r.(=) p.(=) Unknown g.135080635dup - SLC9A6(NM_001042537.1):c.604-6_604-5insT - SLC9A6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.508-3C>T likely benign r.spl? p.? Unknown g.135080638C>T - SLC9A6(NM_001042537.1):c.604-3C>T - SLC9A6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556G>A VUS r.(?) p.(Gly186Arg) Unknown g.135080689G>A - SLC9A6(NM_001042537.1):c.652G>A (p.(Gly218Arg), p.(Gly166Arg), p.(Gly186Arg)) - SLC9A6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3i c.603+3_603+6del - r.(?) p.? Parent #1 g.135080347_135080350del - IVS3+1del4 - SLC9A6_000006 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377157-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 3i c.603+3_603+6del - r.526_603del p.Val176_Arg201del Maternal (confirmed) g.135080347_135080350del - NM_006359.2:c.507+1delGTAA - SLC9A6_000006 - PubMed: Gilfillan 2008, OMIM:var0003 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX 18342287-FamC PubMed: Gilfillan 2008 3-generation family, 3 affected males, 1 female carrier unaffected M - United Kingdom (Great Britain) ? - 0 - - 3 Johan den Dunnen
+/? 4 c.608_609del - r.(?) p.(His203Leufs*59) Parent #1 g.135080645_135080646del - NM_006359.2:c.511_512delAT (H171fs*59) - SLC9A6_000005 found once, not in 282 controls; linkage analysis PubMed: Gilfillan 2008, PubMed: Tarpey 2009, OMIM:var0004 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX 19377156-Pat? PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008 family, 2 affected males M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. - c.641A>G VUS r.(?) p.(Asp214Gly) Unknown g.135081071A>G - SLC9A6(NM_001042537.1):c.737A>G (p.(Asp246Gly)) - SLC9A6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.698-5A>G likely benign r.spl? p.? Unknown g.135084262A>G - SLC9A6(NM_001042537.1):c.794-5A>G (p.?) - SLC9A6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.761_767del VUS r.(?) p.(Gly254Valfs*9) Unknown g.135084330_135084336del - SLC9A6(NM_001042537.1):c.856_862del (p.(Gly286ValfsTer9)) - SLC9A6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.804-6C>T benign r.(=) p.(=) Unknown g.135092595C>T - SLC9A6(NM_001042537.1):c.900-6C>T - SLC9A6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.817T>C VUS r.(?) p.(Tyr273His) Unknown g.135092614T>C - SLC9A6(NM_006359,2):c.817T>C (p.Tyr273His) - SLC9A6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 6 c.860_865del - r.(?) p.(Glu287_Ser288del) Maternal (confirmed) g.135084333_135084338del - - - SLC9A6_000012 linkage analysis PubMed: Gilfillan 2008, OMIM:var0001 - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX 18342287-FamA PubMed: Gilfillan 2008 3-generation family, 3 affected males, 3 female carriers unaffected M - Norway ? - 0 - - 3 Johan den Dunnen
./. - c.1052-2A>G - r.spl? p.? Maternal (confirmed) g.135095506A>G g.136013347A>G - - SLC9A6_000019 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.1052G>A - r.(?) p.(Gly351Asp) Unknown g.135095508G>A - - - SLC9A6_000043 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam1 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - 1 Johan den Dunnen
-/. - c.1089A>C benign r.(?) p.(=) Unknown g.135095545A>C - SLC9A6(NM_001042537.1):c.1185A>C (p.=) - SLC9A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1140+31C>A benign r.(=) p.(=) Unknown g.135095627C>A - SLC9A6(NM_001042537.1):c.1236+31C>A - SLC9A6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 9i c.1140+68del - r.(?) p.(=) Unknown g.135095664del g.136013505del - - SLC9A6_000016 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/? 9 c.1185A>C - r.(?) p.(=) Parent #1 g.135095545A>C - NM_006359.2:c.1089A>C (A363A) - SLC9A6_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377152-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1217A>G likely benign r.(?) p.(Asn406Ser) Unknown g.135098880A>G - SLC9A6(NM_001042537.1):c.1313A>G (p.(Asn438Ser), p.(Asn386Ser), p.(Asn406Ser)) - SLC9A6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 9i c.1236+31C>A - r.(=) p.(=) Parent #1 g.135095627C>A - - - SLC9A6_000007 - - - rs2291639 Not applicable - - - 0 - DNA SEQ - - Healthy/Control - - - - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/? 9i c.1236+31C>A - r.(=) p.(=) Parent #1 g.135095627C>A - - - SLC9A6_000007 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Birgit Neitzel
-?/. - c.1287T>C likely benign r.(?) p.(=) Unknown g.135104777T>C - SLC9A6(NM_001042537.1):c.1383T>C (p.I461=) - SLC9A6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1314G>T likely benign r.(?) p.(Leu438Phe) Unknown g.135104804G>T - SLC9A6(NM_001042537.1):c.1410G>T (p.(Leu470Phe), p.(Leu418Phe), p.(Leu438Phe)) - SLC9A6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1319dup - r.(?) p.(Arg441Lysfs*3) Unknown g.135104809dup - 1414dupA - SLC9A6_000044 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam2 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - 1 Johan den Dunnen
-/? 10i c.1351-63G>A - r.(=) p.(=) Parent #1 g.135104682G>A - - - SLC9A6_000008 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Birgit Neitzel
-/? 10i c.1351-63G>A - r.(=) p.(=) Parent #1 g.135104682G>A - - - SLC9A6_000008 - - - rs6654309 Not applicable - - - 0 - DNA SEQ - - Healthy/Control - - - - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. - c.1366+8G>A benign r.(=) p.(=) Unknown g.135104864G>A - SLC9A6(NM_01042537.1):c.1462+8g>a - SLC9A6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1402C>T - r.(?) p.(Arg468*) Maternal (confirmed) g.135106524C>T - - - SLC9A6_000002 - PubMed: Pescosolido 2014 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam9 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - 0 - - 2 Johan den Dunnen
./. - c.1402C>T - r.(?) p.(Arg468*) Maternal (confirmed) g.135106524C>T - - - SLC9A6_000002 - PubMed: Pescosolido 2014 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam12 PubMed: Pescosolido 2014 3-generation family, affected male, unaffected carrier mother M no United States - - 0 - - 2 Johan den Dunnen
-/? 11i c.1462+8G>A - r.(=) p.(=) Parent #1 g.135104864G>A - - - SLC9A6_000009 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Birgit Neitzel
-/? 11i c.1462+8G>A - r.(=) p.(=) Parent #1 g.135104864G>A - - - SLC9A6_000009 - - - rs6654310 Not applicable - - - 0 - DNA SEQ - - Healthy/Control - - - - - - (not applicable) - - 0 - - 1 Johan den Dunnen
./. - c.1472G>A - r.(?) p.(Trp491*) Unknown g.135106594G>A - - - SLC9A6_000045 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam4 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - 1 Johan den Dunnen
./. - c.1481del - r.(?) p.(Gly494Valfs*53) Maternal (confirmed) g.135106603del - SLC9A6 G494Vfs*53 - SLC9A6_000047 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamM2 PubMed: Hu 2016 family, 5 affected, 10 unaffected heterozygous carrier females M - - - - 0 - - 5 Johan den Dunnen
+/? 12 c.1498C>T - r.(?) p.(Arg500*) Parent #1 g.135106524C>T - NM_006359.2:c.1402C>T (R468*) - SLC9A6_000002 found once, not in 282 controls PubMed: Gilfillan 2008, PubMed: Tarpey 2009, OMIM:var0002 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX 19377153-Pat? PubMed: Gilfillan 2008, PubMed: Tarpey 2009 3-generation family, 2 affected males, 3 female carriers unaffected M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1520+4A>G likely benign r.spl? p.? Unknown g.135106646A>G - SLC9A6(NM_001042537.1):c.1616+4A>G (p.?) - SLC9A6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1520+4A>G likely benign r.spl? p.? Unknown g.135106646A>G - SLC9A6(NM_001042537.1):c.1616+4A>G (p.?) - SLC9A6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1520+4A>G likely benign r.spl? p.? Unknown g.135106646A>G - SLC9A6(NM_001042537.1):c.1616+4A>G (p.?) - SLC9A6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1521-98T>G benign r.(=) p.(=) Unknown g.135112193T>G - SLC9A6(NM_001042537.1):c.1617-98T>G - SLC9A6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1543G>T pathogenic r.(?) p.(Glu515*) Unknown g.135112313G>T - SLC9A6(NM_001042537.1):c.1639G>T (p.Glu547X) - SLC9A6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1543G>T - r.(?) p.(Glu515*) Maternal (confirmed) g.135112313G>T - - - SLC9A6_000038 - PubMed: Pescosolido 2014 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam11 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - 0 - - 3 Johan den Dunnen
+/. - c.1543G>T - r.(?) p.(Glu515*) Maternal (confirmed) g.135112313G>T - - - SLC9A6_000038 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES MRX;IDX 24123876-FamW08-0135 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, 2 affected brothers, unaffected carrier mother M no Netherlands - - 0 - - 3 Johan den Dunnen
-?/. - c.1551+8T>A likely benign r.(=) p.(=) Unknown g.135112329T>A - SLC9A6(NM_001042537.1):c.1647+8T>A (p.(=)) - SLC9A6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1552-3C>T likely benign r.spl? p.? Unknown g.135115570C>T - SLC9A6(NM_001042537.1):c.1648-3C>T (p.?) - SLC9A6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1552-3C>T likely benign r.spl? p.? Unknown g.135115570C>T - SLC9A6(NM_001042537.1):c.1648-3C>T (p.?) - SLC9A6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1607G>A likely benign r.(?) p.(Arg536Gln) Unknown g.135115628G>A - SLC9A6(NM_001042537.1):c.1703G>A (p.R568Q) - SLC9A6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1607G>A benign r.(?) p.(Arg536Gln) Unknown g.135115628G>A - SLC9A6(NM_001042537.1):c.1703G>A (p.R568Q) - SLC9A6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1607G>A likely benign r.(?) p.(Arg536Gln) Unknown g.135115628G>A - SLC9A6(NM_001042537.1):c.1703G>A (p.R568Q) - SLC9A6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1614G>A - r.(?) p.(Trp538*) Unknown g.135115635G>A - - - SLC9A6_000046 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam3 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - 1 Johan den Dunnen
./. - c.1614G>A - r.(?) p.(Trp538*) Unknown g.135115635G>A - - - SLC9A6_000046 - PubMed: Pescosolido 2014 - - Germline - - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam7 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - 1 Johan den Dunnen
-/? 12i c.1617-63T>C - r.(=) p.(=) Parent #1 g.135112228T>C - - - SLC9A6_000010 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Birgit Neitzel
-/? 12i c.1617-63T>C - r.(=) p.(=) Parent #1 g.135112228T>C - - - SLC9A6_000010 - - - rs10521848 Not applicable - - - 0 - DNA SEQ - - Healthy/Control - - - - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. - c.1631+18A>G benign r.(=) p.(=) Unknown g.135115670A>G - SLC9A6(NM_001042537.1):c.1727+18A>G - SLC9A6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1631+28del benign r.(=) p.(=) Unknown g.135115680del - SLC9A6(NM_001042537.1):c.1727+28delA - SLC9A6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14i c.1631+113_1631+114insC - r.(?) p.(=) Maternal (inferred) g.135115765_135115766insC g.136033606_136033607insC - - SLC9A6_000017 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.1632-4G>A benign r.spl? p.? Unknown g.135122231G>A - SLC9A6(NM_001042537.1):c.1728-4G>A (p.?) - SLC9A6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1632-4G>A benign r.spl? p.? Unknown g.135122231G>A - SLC9A6(NM_001042537.1):c.1728-4G>A (p.?) - SLC9A6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1632-4G>A likely benign r.spl? p.? Unknown g.135122231G>A - SLC9A6(NM_001042537.1):c.1728-4G>A (p.?) - SLC9A6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1659C>T benign r.(?) p.(=) Unknown g.135122262C>T - SLC9A6(NM_001042537.1):c.1755C>T (p.S585=) - SLC9A6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1659C>T benign r.(?) p.(=) Unknown g.135122262C>T - SLC9A6(NM_001042537.1):c.1755C>T (p.S585=) - SLC9A6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 14 c.1703G>A - r.(?) p.(Arg568Gln) Parent #1 g.135115628G>A - NM_006359.2:c.1607G>A (R536Q) - SLC9A6_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377154-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/? 15 c.1755C>T - r.(?) p.(=) Parent #1 g.135122262C>T - NM_006359.2:c.1659C>T (S553S) - SLC9A6_000004 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline ? 9/208 cases - 0 - DNA SEQ - - MRX;IDX 19377155-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
-/? 15 c.1755C>T - r.(?) p.(=) Parent #1 g.135122262C>T - - - SLC9A6_000004 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Birgit Neitzel
-/? 15 c.1755C>T - r.(?) p.(=) Parent #1 g.135122262C>T - - - SLC9A6_000004 - - - rs2307131 Not applicable - - - 0 - DNA SEQ - - Healthy/Control - - - - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. - c.1816A>G VUS r.(?) p.(Thr606Ala) Unknown g.135126689A>G - SLC9A6(NM_001042537.1):c.1912A>G (p.T638A) - SLC9A6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*8A>T likely benign r.(=) p.(=) Unknown g.135126891A>T - SLC9A6(NM_001042537.1):c.*8A>T - SLC9A6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend