Unique variants in gene SLC9A6

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

63 entries on 1 page. Showing entries 1 - 63.
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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 1_1i c.-6_325+5del r.0? p.0? - pathogenic g.135067656_135067991del g.135985497_135985832del - - SLC9A6_000013 - - - - Unknown ? - - - - Andreas Tzschach
?/., -/., -?/. 3 - c.25G>T r.(?) p.(Ala9Ser) - VUS, benign, likely benign g.135067686G>T g.135985527G>T SLC9A6(NM_001042537.1):c.25G>T (p.A9S, p.(Ala9Ser)) - SLC9A6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.97G>T r.(?) p.(Ala33Ser) - - g.135067758G>T - SLC9A6(NM_001042537.1):c.97G>T (p.A33S) - SLC9A6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.148G>T r.(?) p.(Ala50Ser) - likely benign g.135067809G>T g.135985650G>T SLC9A6(NM_001042537.1):c.148G>T (p.A50S) - SLC9A6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 1 - c.190G>T r.(?) p.(Glu64*) - pathogenic g.135067851G>T g.135985692G>T - - SLC9A6_000040 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.213C>A r.(?) p.(Ser71Arg) - likely pathogenic g.135067874C>A g.135985715C>A SLC9A6(NM_001042537.1):c.213C>A (p.S71R) - SLC9A6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.223C>G r.(?) p.(Leu75Val) - VUS g.135067884C>G g.135985725C>G - - SLC9A6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.326-166G>A r.(=) p.(=) - benign g.135076779G>A g.135994620G>A SLC9A6(NM_001042537.1):c.326-166G>A - SLC9A6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.349C>T r.(?) p.(Arg117Trp) - VUS g.135076968C>T g.135994809C>T SLC9A6(NM_001042537.1):c.349C>T (p.R117W) - SLC9A6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.429+200G>A r.(=) p.(=) - benign g.135077248G>A g.135995089G>A SLC9A6(NM_001042537.1):c.525+104G>A - SLC9A6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.430-9_430-5del r.spl? p.? - pathogenic (recessive) g.135080258_135080262del g.135998099_135998103del - - SLC9A6_000058 - PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
./. 1 - c.430-1G>A r.spl? p.? - pathogenic g.135080266G>A g.135998107G>A - - SLC9A6_000041 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
./. 1 - c.444_451dup r.(?) p.(Phe151*) - pathogenic g.135080281_135080288dup g.135998122_135998129dup 540_547dupAGAAGTAT - SLC9A6_000042 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
?/. 3 3i c.508-7_508-6dup r.(?) p.(=) - VUS g.135080634_135080635dup g.135998475_135998476dup 508-6_508-5insTT, 508-18_508-17insTT - SLC9A6_000015 - - - - Germline - - - - - Yu Sun
-/. 1 - c.508-6del r.(=) p.(=) - benign g.135080635del g.135998476del SLC9A6(NM_001042537.1):c.604-6delT - SLC9A6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/., -/. 5 3i c.508-6dup r.(?), r.(=) p.(=) - VUS, benign 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_Groningen
-?/. 1 - c.508-3C>T r.spl? p.? - likely benign g.135080638C>T g.135998479C>T SLC9A6(NM_001042537.1):c.604-3C>T - SLC9A6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.556G>A r.(?) p.(Gly186Arg) - VUS g.135080689G>A g.135998530G>A SLC9A6(NM_001042537.1):c.652G>A (p.(Gly218Arg)) - SLC9A6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.577G>A r.(?) p.(Val193Ile) - - g.135080710G>A - SLC9A6(NM_001042537.1):c.673G>A (p.V225I) - SLC9A6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.584+5G>A r.spl? p.? - likely pathogenic g.135080722G>A g.135998563G>A - - SLC9A6_000057 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs796053284 Germline - 1/2788 individuals - - - Mohammed Faruq
+/?, +/. 2 3i c.603+3_603+6del r.(?), r.526_603del p.?, p.Val176_Arg201del - pathogenic g.135080347_135080350del - IVS3+1del4, NM_006359.2:c.507+1delGTAA - SLC9A6_000006 2 more items 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) - pathogenic g.135080645_135080646del - NM_006359.2:c.511_512delAT (H171fs*59) - SLC9A6_000005 1 more item PubMed: Gilfillan 2008, PubMed: Tarpey 2009, OMIM:var0004 - - Germline yes - - - - Lucy Raymond
?/. 1 - c.641A>G r.(?) p.(Asp214Gly) - VUS g.135081071A>G g.135998912A>G - - SLC9A6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.698-5A>G r.spl? p.? - likely benign g.135084262A>G g.136002103A>G SLC9A6(NM_001042537.1):c.794-5A>G (p.?) - SLC9A6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.761_767del r.(?) p.(Gly254ValfsTer9) - VUS g.135084330_135084336del g.136002171_136002177del SLC9A6(NM_001042537.1):c.856_862del (p.(Gly286ValfsTer9)) - SLC9A6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.804-6C>T r.(=) p.(=) - benign g.135092595C>T g.136010436C>T SLC9A6(NM_001042537.1):c.900-6C>T - SLC9A6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.817T>C r.(?) p.(Tyr273His) - VUS g.135092614T>C g.136010455T>C - - SLC9A6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 6 c.860_865del r.(?) p.(Glu287_Ser288del) - pathogenic g.135084333_135084338del - - - SLC9A6_000012 1 more item PubMed: Gilfillan 2008, OMIM:var0001 - - Unknown ? - - - - Johan den Dunnen
./. 1 - c.1052-2A>G r.spl? p.? - pathogenic 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) - likely pathogenic g.135095508G>A g.136013349G>A - - SLC9A6_000043 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
-?/., -/. 2 - c.1089A>C r.(?) p.(Ala363=) - likely benign, benign g.135095545A>C g.136013386A>C SLC9A6(NM_001042537.1):c.1185A>C (p.A395=) - SLC9A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.1140+31C>A r.(=) p.(=) - benign g.135095627C>A g.136013468C>A SLC9A6(NM_001042537.1):c.1236+31C>A - SLC9A6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 9i c.1140+68del r.(?) p.(=) - VUS g.135095664del g.136013505del - - SLC9A6_000016 - - - - Germline - - - - - Yu Sun
?/? 1 9 c.1185A>C r.(?) p.(=) - VUS g.135095545A>C - NM_006359.2:c.1089A>C (A363A) - SLC9A6_000001 1 more item PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
-/? 2 9i c.1236+31C>A r.(=) p.(=) - benign g.135095627C>A - - - SLC9A6_000007 1 more item - - rs2291639 Not applicable, Unknown -, ? - - - - Johan den Dunnen, Birgit Neitzel
-?/. 1 - c.1287T>C r.(?) p.(Ile429=) - likely benign g.135104777T>C g.136022618T>C SLC9A6(NM_001042537.1):c.1383T>C (p.I461=) - SLC9A6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1314G>T r.(?) p.(Leu438Phe) - likely benign g.135104804G>T g.136022645G>T SLC9A6(NM_001042537.1):c.1410G>T (p.(Leu470Phe)) - SLC9A6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.1319dup r.(?) p.(Arg441Lysfs*3) - pathogenic g.135104809dup g.136022650dup 1414dupA - SLC9A6_000044 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
-/? 2 10i c.1351-63G>A r.(=) p.(=) - benign g.135104682G>A - - - SLC9A6_000008 1 more item - - rs6654309 Unknown, Not applicable ?, - - - - - Birgit Neitzel, Johan den Dunnen
-/. 1 - c.1366+8G>A r.(=) p.(=) - benign g.135104864G>A g.136022705G>A - - SLC9A6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 2 - c.1402C>T r.(?) p.(Arg468*) - pathogenic g.135106524C>T g.136024365C>T - - SLC9A6_000002 - PubMed: Pescosolido 2014 - - Germline yes - - - - Johan den Dunnen
-/? 2 11i c.1462+8G>A r.(=) p.(=) - benign g.135104864G>A - - - SLC9A6_000009 1 more item - - rs6654310 Unknown, Not applicable ?, - - - - - Birgit Neitzel, Johan den Dunnen
./. 1 - c.1472G>A r.(?) p.(Trp491*) - pathogenic g.135106594G>A g.136024435G>A - - SLC9A6_000045 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
./. 1 - c.1481del r.(?) p.(Gly494Valfs*53) - pathogenic g.135106603del g.136024444del SLC9A6 G494Vfs*53 - SLC9A6_000047 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
+/? 1 12 c.1498C>T r.(?) p.(Arg500*) - pathogenic g.135106524C>T - NM_006359.2:c.1402C>T (R468*) - SLC9A6_000002 1 more item PubMed: Gilfillan 2008, PubMed: Tarpey 2009, OMIM:var0002 - - Germline yes - - - - Lucy Raymond
-?/. 3 - c.1520+4A>G r.spl? p.? - likely benign g.135106646A>G g.136024487A>G SLC9A6(NM_001042537.1):c.1616+4A>G - SLC9A6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.1521-98T>G r.(=) p.(=) - benign g.135112193T>G g.136030034T>G SLC9A6(NM_001042537.1):c.1617-98T>G - SLC9A6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./., +/. 3 - c.1543G>T r.(?) p.(Glu515*), p.(Glu515Ter) - pathogenic g.135112313G>T g.136030154G>T - - SLC9A6_000038 VKGL data sharing initiative Nederland PubMed: Pescosolido 2014, PubMed: Schuurs-Hoeijmakers 2013 - - Germline, CLASSIFICATION record yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.1551+8T>A r.(=) p.(=) - likely benign g.135112329T>A g.136030170T>A SLC9A6(NM_001042537.1):c.1647+8T>A (p.(=)) - SLC9A6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1552-3C>T r.spl? p.? - likely benign g.135115570C>T g.136033411C>T SLC9A6(NM_001042537.1):c.1648-3C>T - SLC9A6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.1607G>A r.(?) p.(Arg536Gln) - benign, likely benign g.135115628G>A g.136033469G>A SLC9A6(NM_001042537.1):c.1703G>A (p.R568Q) - SLC9A6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
./. 2 - c.1614G>A r.(?) p.(Trp538*) - pathogenic g.135115635G>A g.136033476G>A - - SLC9A6_000046 - PubMed: Pescosolido 2014 - - Germline - - - - - Johan den Dunnen
-/? 2 12i c.1617-63T>C r.(=) p.(=) - benign g.135112228T>C - - - SLC9A6_000010 1 more item - - rs10521848 Unknown, Not applicable ?, - - - - - Birgit Neitzel, Johan den Dunnen
-/. 1 - c.1631+18A>G r.(=) p.(=) - benign g.135115670A>G g.136033511A>G SLC9A6(NM_001042537.1):c.1727+18A>G - SLC9A6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1631+28del r.(=) p.(=) - benign g.135115680del g.136033521del SLC9A6(NM_001042537.1):c.1727+28delA - SLC9A6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 14i c.1631+113_1631+114insC r.(?) p.(=) - VUS g.135115765_135115766insC g.136033606_136033607insC - - SLC9A6_000017 - - - - Germline - - - - - Yu Sun
-?/., -/. 3 - c.1632-4G>A r.spl? p.? - likely benign, benign g.135122231G>A g.136040072G>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 r.(?) p.(Ser553=) - benign g.135122262C>T g.136040103C>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) - likely pathogenic g.135115628G>A - NM_006359.2:c.1607G>A (R536Q) - SLC9A6_000003 1 more item PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - Lucy Raymond
?/?, -/? 3 15 c.1755C>T r.(?) p.(=) - VUS, benign g.135122262C>T - NM_006359.2:c.1659C>T (S553S) - SLC9A6_000004 2 more items PubMed: Tarpey 2009 - rs2307131 Germline, Unknown, Not applicable ?, - 9/208 cases - - - Lucy Raymond, Birgit Neitzel, Johan den Dunnen
-?/. 1 - c.1803A>T r.(?) p.(Thr601=) - - g.135126676A>T - SLC9A6(NM_001042537.1):c.1899A>T (p.T633=) - SLC9A6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1816A>G r.(?) p.(Thr606Ala) - VUS g.135126689A>G g.136044530A>G SLC9A6(NM_001042537.1):c.1912A>G (p.T638A) - SLC9A6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*8A>T r.(=) p.(=) - likely benign g.135126891A>T g.136044732A>T SLC9A6(NM_001042537.1):c.*8A>T - SLC9A6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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