Unique variants in gene SLC9A6

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

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 1 1_1i c.-6_325+5del - r.0? p.0? g.135067656_135067991del g.135985497_135985832del - - SLC9A6_000013 - - - - Unknown ? - - - - Andreas Tzschach
?/., -/., -?/. 3 - c.25G>T VUS, benign, likely benign r.(?) p.(Ala9Ser) g.135067686G>T - SLC9A6(NM_001042537.1):c.25G>T (p.A9S) - SLC9A6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.148G>T likely benign r.(?) p.(Ala50Ser) g.135067809G>T - SLC9A6(NM_001042537.1):c.148G>T (p.A50S) - SLC9A6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.190G>T - r.(?) p.(Glu64*) g.135067851G>T - - - SLC9A6_000040 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.213C>A likely pathogenic r.(?) p.(Ser71Arg) g.135067874C>A - SLC9A6(NM_001042537.1):c.213C>A (p.S71R) - SLC9A6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.223C>G VUS r.(?) p.(Leu75Val) g.135067884C>G - SLC9A6(NM_001042537.1):c.223C>G (p.Leu75Val) - SLC9A6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.326-166G>A benign r.(=) p.(=) g.135076779G>A - SLC9A6(NM_001042537.1):c.326-166G>A - SLC9A6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.429+200G>A benign r.(=) p.(=) g.135077248G>A - SLC9A6(NM_001042537.1):c.525+104G>A - SLC9A6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.430-1G>A - r.spl? p.? g.135080266G>A - - - SLC9A6_000041 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
./. 1 - c.444_451dup - r.(?) p.(Phe151*) g.135080281_135080288dup - 540_547dupAGAAGTAT - SLC9A6_000042 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
?/. 3 3i c.508-7_508-6dup - r.(?) p.(=) g.135080634_135080635dup g.135998475_135998476dup 508-6_508-5insTT, 508-18_508-17insTT - SLC9A6_000015 - - - - Germline - - - - - Yu Sun
-/. 1 - c.508-6del benign r.(=) p.(=) g.135080635del - SLC9A6(NM_001042537.1):c.604-6delT - SLC9A6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/. 5 3i c.508-6dup benign r.(?), r.(=) p.(=) g.135080635dup g.135998476dup SLC9A6(NM_001042537.1):c.604-6_604-5insT, 508-18_508-17insT - SLC9A6_000014 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Yu Sun, VKGL-NL
-?/. 1 - c.508-3C>T likely benign r.spl? p.? g.135080638C>T - SLC9A6(NM_001042537.1):c.604-3C>T - SLC9A6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.556G>A VUS r.(?) p.(Gly186Arg) 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 - - - - - VKGL-NL
+/?, +/. 2 3i c.603+3_603+6del - r.(?), r.526_603del p.?, p.Val176_Arg201del g.135080347_135080350del - IVS3+1del4, NM_006359.2:c.507+1delGTAA - SLC9A6_000006 found once, non-recurrent change PubMed: Tarpey 2009, PubMed: Gilfillan 2008, OMIM:var0003 - - Germline ?, yes 1/208 cases - - - Lucy Raymond, Johan den Dunnen
+/? 1 4 c.608_609del - r.(?) p.(His203Leufs*59) 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 - - - - Lucy Raymond
?/. 1 - c.641A>G VUS r.(?) p.(Asp214Gly) g.135081071A>G - SLC9A6(NM_001042537.1):c.737A>G (p.(Asp246Gly)) - SLC9A6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.698-5A>G likely benign r.spl? p.? g.135084262A>G - SLC9A6(NM_001042537.1):c.794-5A>G (p.?) - SLC9A6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.761_767del VUS r.(?) p.(Gly254Valfs*9) g.135084330_135084336del - SLC9A6(NM_001042537.1):c.856_862del (p.(Gly286ValfsTer9)) - SLC9A6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.804-6C>T benign r.(=) p.(=) g.135092595C>T - SLC9A6(NM_001042537.1):c.900-6C>T - SLC9A6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.817T>C VUS r.(?) p.(Tyr273His) g.135092614T>C - SLC9A6(NM_006359,2):c.817T>C (p.Tyr273His) - SLC9A6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 6 c.860_865del - r.(?) p.(Glu287_Ser288del) g.135084333_135084338del - - - SLC9A6_000012 linkage analysis PubMed: Gilfillan 2008, OMIM:var0001 - - Unknown ? - - - - Johan den Dunnen
./. 1 - c.1052-2A>G - r.spl? p.? g.135095506A>G g.136013347A>G - - SLC9A6_000019 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.1052G>A - r.(?) p.(Gly351Asp) g.135095508G>A - - - SLC9A6_000043 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1089A>C benign r.(?) p.(=) g.135095545A>C - SLC9A6(NM_001042537.1):c.1185A>C (p.=) - SLC9A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1140+31C>A benign r.(=) p.(=) g.135095627C>A - SLC9A6(NM_001042537.1):c.1236+31C>A - SLC9A6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 9i c.1140+68del - r.(?) p.(=) g.135095664del g.136013505del - - SLC9A6_000016 - - - - Germline - - - - - Yu Sun
?/? 1 9 c.1185A>C - r.(?) p.(=) g.135095545A>C - NM_006359.2:c.1089A>C (A363A) - SLC9A6_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1217A>G likely benign r.(?) p.(Asn406Ser) 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 - - - - - VKGL-NL
-/? 2 9i c.1236+31C>A - r.(=) p.(=) g.135095627C>A - - - SLC9A6_000007 - - - rs2291639 Not applicable, Unknown -, ? - - - - Johan den Dunnen, Birgit Neitzel
-?/. 1 - c.1287T>C likely benign r.(?) p.(=) g.135104777T>C - SLC9A6(NM_001042537.1):c.1383T>C (p.I461=) - SLC9A6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1314G>T likely benign r.(?) p.(Leu438Phe) 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 - - - - - VKGL-NL
./. 1 - c.1319dup - r.(?) p.(Arg441Lysfs*3) g.135104809dup - 1414dupA - SLC9A6_000044 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
-/? 2 10i c.1351-63G>A - r.(=) p.(=) g.135104682G>A - - - SLC9A6_000008 - - - rs6654309 Unknown, Not applicable ?, - - - - - Birgit Neitzel, Johan den Dunnen
-/. 1 - c.1366+8G>A benign r.(=) p.(=) g.135104864G>A - SLC9A6(NM_01042537.1):c.1462+8g>a - SLC9A6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 - c.1402C>T - r.(?) p.(Arg468*) g.135106524C>T - - - SLC9A6_000002 - PubMed: Pescosolido 2014 - - Germline yes - - - - Johan den Dunnen
-/? 2 11i c.1462+8G>A - r.(=) p.(=) g.135104864G>A - - - SLC9A6_000009 - - - rs6654310 Unknown, Not applicable ?, - - - - - Birgit Neitzel, Johan den Dunnen
./. 1 - c.1472G>A - r.(?) p.(Trp491*) g.135106594G>A - - - SLC9A6_000045 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
./. 1 - c.1481del - r.(?) p.(Gly494Valfs*53) g.135106603del - SLC9A6 G494Vfs*53 - SLC9A6_000047 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/? 1 12 c.1498C>T - r.(?) p.(Arg500*) 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 - - - - Lucy Raymond
-?/. 3 - c.1520+4A>G likely benign r.spl? p.? g.135106646A>G - SLC9A6(NM_001042537.1):c.1616+4A>G (p.?) - SLC9A6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Leiden
-/. 1 - c.1521-98T>G benign r.(=) p.(=) g.135112193T>G - SLC9A6(NM_001042537.1):c.1617-98T>G - SLC9A6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./., +/. 3 - c.1543G>T pathogenic r.(?) p.(Glu515*) g.135112313G>T - SLC9A6(NM_001042537.1):c.1639G>T (p.Glu547X) - SLC9A6_000038 VKGL data sharing initiative Nederland PubMed: Pescosolido 2014, PubMed: Schuurs-Hoeijmakers 2013 - - Germline, CLASSIFICATION record yes - - - - Johan den Dunnen, VKGL-NL
-?/. 1 - c.1551+8T>A likely benign r.(=) p.(=) g.135112329T>A - SLC9A6(NM_001042537.1):c.1647+8T>A (p.(=)) - SLC9A6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1552-3C>T likely benign r.spl? p.? g.135115570C>T - SLC9A6(NM_001042537.1):c.1648-3C>T (p.?) - SLC9A6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/., -/. 3 - c.1607G>A likely benign, benign r.(?) p.(Arg536Gln) g.135115628G>A - SLC9A6(NM_001042537.1):c.1703G>A (p.R568Q) - SLC9A6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
./. 2 - c.1614G>A - r.(?) p.(Trp538*) g.135115635G>A - - - SLC9A6_000046 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
-/? 2 12i c.1617-63T>C - r.(=) p.(=) g.135112228T>C - - - SLC9A6_000010 - - - rs10521848 Unknown, Not applicable ?, - - - - - Birgit Neitzel, Johan den Dunnen
-/. 1 - c.1631+18A>G benign r.(=) p.(=) g.135115670A>G - SLC9A6(NM_001042537.1):c.1727+18A>G - SLC9A6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1631+28del benign r.(=) p.(=) g.135115680del - SLC9A6(NM_001042537.1):c.1727+28delA - SLC9A6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 14i c.1631+113_1631+114insC - r.(?) p.(=) g.135115765_135115766insC g.136033606_136033607insC - - SLC9A6_000017 - - - - Germline - - - - - Yu Sun
-?/., -/. 3 - c.1632-4G>A likely benign, benign r.spl? p.? g.135122231G>A - SLC9A6(NM_001042537.1):c.1728-4G>A (p.?) - SLC9A6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 2 - c.1659C>T benign r.(?) p.(=) g.135122262C>T - SLC9A6(NM_001042537.1):c.1755C>T (p.S585=) - SLC9A6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+?/? 1 14 c.1703G>A - r.(?) p.(Arg568Gln) g.135115628G>A - NM_006359.2:c.1607G>A (R536Q) - SLC9A6_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
?/?, -/? 3 15 c.1755C>T - r.(?) p.(=) g.135122262C>T - NM_006359.2:c.1659C>T (S553S) - SLC9A6_000004 recurrent, found 9 times PubMed: Tarpey 2009 - rs2307131 Germline, Unknown, Not applicable ?, - 9/208 cases - - - Lucy Raymond, Birgit Neitzel, Johan den Dunnen
?/. 1 - c.1816A>G VUS r.(?) p.(Thr606Ala) g.135126689A>G - SLC9A6(NM_001042537.1):c.1912A>G (p.T638A) - SLC9A6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*8A>T likely benign r.(=) p.(=) g.135126891A>T - SLC9A6(NM_001042537.1):c.*8A>T - SLC9A6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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