Full data view for gene SLC9A6

Information The variants shown are described using the NM_001379110.1 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1_1i c.-57+20_169+5del r.0? p.? Unknown - pathogenic g.135067656_135067991del g.135985497_135985832del NM_006359.2:c.-6_325+5del - SLC9A6_000013 - PubMed: Tzschach 2015 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - MRX;IDX Pat16 PubMed: Tzschach 2015 conceived after anonymous egg donation M - - ? - - - - 1 Andreas Tzschach
?/. - c.-35G>A r.(?) p.(=) Unknown - VUS g.135067783G>A g.135985624G>A SLC9A6(NM_001042537.1):c.122G>A (p.(Gly41Glu)) - SLC9A6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.34G>T r.(?) p.(Glu12Ter) Maternal (confirmed) - pathogenic g.135067851G>T g.135985692G>T NM_006359.2:c.190G>T - SLC9A6_000040 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam8 PubMed: Pescosolido 2014 2-generation family, 2 affected males, 2 unaffected carrier females M no United States - - - - - 4 Johan den Dunnen
+/. - c.109T>C r.(?) p.(Trp37Arg) Maternal (confirmed) ACMG likely pathogenic g.135067926T>C g.135985767T>C NM_001042537.1:c.265T>C - SLC9A6_000081 no carrier males in family reported PubMed: Nan 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES quad ID FamPatII3/II1/III3 PubMed: Nan 2022 3-generation family, 3 affected (3F) F no Japan - - - - - 3 Johan den Dunnen
+?/. - c.109T>M r.(?) p.(Trp37Arg) Unknown - likely pathogenic g.135067926T>M g.135985767T>M NM_006359.3 Trp89Arg - SLC9A6_000082 - PubMed: Yamamoto 2025 - - Germline/De novo (untested) - - - - - DNA SEQ - - PD Pat2 PubMed: Yamamoto 2025 patient F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.109T>M r.(?) p.(Trp37Arg) Unknown - likely pathogenic g.135067926T>M g.135985767T>M NM_006359.3 Trp89Arg - SLC9A6_000082 - PubMed: Yamamoto 2025 - - Germline/De novo (untested) - - - - - DNA SEQ - - PD Pat3 PubMed: Yamamoto 2025 patient F - Japan - - - - - 1 Johan den Dunnen
-?/. - c.256A>G r.(?) p.(Ser86Gly) Unknown - likely benign g.135077031A>G g.135994872A>G SLC9A6(NM_001042537.1):c.412A>G (p.S138G) - SLC9A6_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275T>C r.(?) p.(Val92Ala) Unknown - VUS g.135077050T>C g.135994891T>C SLC9A6(NM_001042537.1):c.431T>C (p.V144A) - SLC9A6_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370-9_370-5del r.spl? p.? Maternal (confirmed) - pathogenic (recessive) g.135080258_135080262del g.135998099_135998103del NM_006359.2:c.430-9_430-5del - SLC9A6_000058 - PubMed: Redin 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - 239-gene ID panel ID APN-43 PubMed: Redin 2014 analysis 106 patients M - France - - - - - 1 Johan den Dunnen
+/. - c.370-9_370-5del r.(526_603del) p.(Val176_Arg201del) Maternal (confirmed) - pathogenic (recessive) g.135080258_135080262del g.135998099_135998103del NM_001042537.1:c.526-9_526-5del - SLC9A6_000058 - PubMed: Masurel-Paulet 2016 - - Germline yes - - - - DNA SEQ - - ID FamPatI4 PubMed: Masurel-Paulet 2016 2-generation family, 2 affected (2M), 4 unaffected carrier females M no France - - - - - 2 Johan den Dunnen
+/. - c.370-9_370-5del r.[526_603del|0.9,=|0.10] p.[Val176_Arg201del,=] Maternal (confirmed) - pathogenic (recessive) g.135080258_135080262del g.135998099_135998103del NM_001042537.1:c.526-9_526-5del - SLC9A6_000058 - PubMed: Masurel-Paulet 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ID FamPatII4 PubMed: Masurel-Paulet 2016 nephew M no France - - - - - 1 Johan den Dunnen
+/. - c.370-1G>A r.spl? p.? Unknown - pathogenic g.135080266G>A g.135998107G>A NM_006359.2:c.430-1G>A - SLC9A6_000041 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam6 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
+/. - c.384_391dup r.(?) p.(Phe131Ter) Unknown - pathogenic g.135080281_135080288dup g.135998122_135998129dup NM_001042537:540_547dupAGAAGTAT - SLC9A6_000042 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam5 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
+/. 3i c.447+3_447+6del r.(?) p.? Parent #1 - pathogenic g.135080347_135080350del g.135998188_135998191del NM_006359.2 IVS3+1del4 - SLC9A6_000006 found once, non-recurrent change Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 3i c.447+3_447+6del r.370_447del p.? Maternal (confirmed) - pathogenic (recessive) g.135080347_135080350del g.135998188_135998191del NM_006359.2:c.507+1delGTAA - SLC9A6_000006 - PubMed: Gilfillan 2008, OMIM:var0003 - - Germline yes - - - - DNA SEQ - - MRX;IDX Fam3 PubMed: Gilfillan 2008 3-generation family, 3 affected males, 1 female carrier unaffected M - United Kingdom (Great Britain) ? - - - - 3 Johan den Dunnen
?/. 3i c.448-7_448-6dup r.(?) p.? Unknown - VUS g.135080634_135080635dup g.135998475_135998476dup NM_006359.2:c.508-6_508-5insTT - SLC9A6_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 3i c.448-7_448-6dup r.(?) p.? Unknown - VUS g.135080634_135080635dup g.135998475_135998476dup NM_006359.2:c.508-6_508-5insTT - SLC9A6_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 3i c.448-7_448-6dup r.(?) p.? Unknown - VUS g.135080634_135080635dup g.135998475_135998476dup NM_006359.2:c.508-18_508-17insTT - SLC9A6_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 3i c.448-6dup r.(?) p.? Unknown - VUS g.135080635dup g.135998476dup NM_006359.2:c.508-6dup - SLC9A6_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 3i c.448-6dup r.(?) p.? Maternal (inferred) - VUS g.135080635dup g.135998476dup NM_006359.2:c.508-18_508-17insT - SLC9A6_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 3i c.448-6dup r.(?) p.? Unknown - VUS g.135080635dup g.135998476dup NM_006359.2:c.508-6dup - SLC9A6_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 3i c.448-6dup r.(?) p.? Unknown - VUS g.135080635dup g.135998476dup NM_006359.2:c.508-18_508-17insT - SLC9A6_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 4 c.452_453del r.(?) p.(His151LeufsTer60) Parent #1 - pathogenic g.135080645_135080646del g.135998486_135998487del NM_006359.2:c.512_513delAT (H171fs*59) - SLC9A6_000005 found once, not in 282 controls; linkage analysis PubMed: Gilfillan 2008, PubMed: Tarpey 2009, OMIM:var0004 - - Germline yes - - - - DNA SEQ - - MRX;IDX Fam4 PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008 family, 2 affected males M - South Africa - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
+/. - c.524+1G>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.135080718G>T g.135998559G>T NM_006359.2:c.584+1G>T - SLC9A6_000080 - PubMed: Riess 2016 - - Germline - - - - - DNA SEQ - - ID Fam2Pat PubMed: Riess 2016 - M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.524+5G>A r.spl? p.? Parent #1 - likely pathogenic g.135080722G>A g.135998563G>A NM_006359.2:c.584+5G>A - SLC9A6_000057 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796053284 Germline - 1/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. 5_16 c.538_2024del r.(?) p.(Gly180ThrfsTer12) Unknown ACMG pathogenic (!) g.135081028_135126867del g.135998869_136044708del NM_001042537.1:c.694_2090del - SLC9A6_000078 ACMG: PVS1, PS2_SUP. PM2_SUP; confirmed de novo - - - De novo - - - - - DNA SEQ-NG-I Blood - MRXSCH 322428 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.637+1G>A r.spl p.? Unknown - likely pathogenic g.135081128G>A g.135998969G>A NM_006359.2:c.697+1G>A - SLC9A6_000062 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410836 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.704_709del r.(?) p.(Glu235_Ser236del) Maternal (confirmed) - pathogenic (recessive) g.135084333_135084338del g.136002174_136002179del NM_006359.2:c.764_769delAAAGTG - SLC9A6_000012 linkage analysis PubMed: Gilfillan 2008, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - MRX;IDX Fam1 PubMed: Gilfillan 2008 3-generation family, 3 affected males, 3 female carriers unaffected M - Norway ? - - - - 3 Johan den Dunnen
+/. - c.743+3_743+6del r.794_899del p.? Unknown - VUS g.135084375_135084378del g.136002216_136002219del NM_001042537.1:c.899+3_899+6del - SLC9A6_000048 - - - - De novo no - - - - DNA SEQ-NG blood whole exome sequencing MRXSCH 00001 - - M no China - 01y - - - 1 Xia Zhang
+/. - c.953_961del r.(?) p.(Trp318_Thr320del) Maternal (confirmed) - pathogenic (recessive) g.135095175_135095183del g.136013016_136013024del NM_006359.2:c.1012_1020del - SLC9A6_000001 - PubMed: Garbern 2010 - rs398122849 Germline - - - - - DNA SEQ - - ID FamPatIII8 PubMed: Garbern 2010 5-generation family, 8 affected (F, 7M) M yes United States - - - - - 8 Johan den Dunnen
+/. - c.953_961del r.(?) p.(Trp318_Thr320del) Maternal (confirmed) - pathogenic (recessive) g.135095175_135095183del g.136013016_136013024del NM_006359.2:c.1012_1020del - SLC9A6_000001 - PubMed: Garbern 2010 - rs398122849 Germline - - - - - DNA SEQ - - ID FamPatIII9 PubMed: Garbern 2010 brother M yes United States - 49y - - - 1 Johan den Dunnen
+/. - c.953_961del r.(?) p.(Trp318_Thr320del) Maternal (confirmed) - pathogenic (recessive) g.135095175_135095183del g.136013016_136013024del NM_006359.2:c.1012_1020del - SLC9A6_000001 - PubMed: Garbern 2010 - rs398122849 Germline - - - - - DNA SEQ - - ID FamPatIII10 PubMed: Garbern 2010 brother M yes United States - 47y - - - 1 Johan den Dunnen
+/. - c.953_961del r.(?) p.(Trp318_Thr320del) Maternal (confirmed) - pathogenic (recessive) g.135095175_135095183del g.136013016_136013024del NM_006359.2:c.1012_1020del - SLC9A6_000001 - PubMed: Garbern 2010 - rs398122849 Germline - - - - - DNA SEQ - - ID FamPatIII11 PubMed: Garbern 2010 brother M yes United States - - - - - 1 Johan den Dunnen
+/. - c.953_961del r.(?) p.(Trp318_Thr320del) Maternal (confirmed) - pathogenic (recessive) g.135095175_135095183del g.136013016_136013024del NM_006359.2:c.1012_1020del - SLC9A6_000001 - PubMed: Garbern 2010 - rs398122849 Germline - - - - - DNA SEQ - - ID FamPatIV4 PubMed: Garbern 2010 nephew M yes United States - - - - - 1 Johan den Dunnen
+/. - c.953_961del r.(?) p.(Trp318_Thr320del) Maternal (confirmed) - pathogenic (recessive) g.135095175_135095183del g.136013016_136013024del NM_006359.2:c.1012_1020del - SLC9A6_000001 carries also de novo 46,XY, t(14;18)(q13;q23) PubMed: Garbern 2010 - rs398122849 Germline - - - - - DNA SEQ - - ID FamPatIV5 PubMed: Garbern 2010 nephew M yes United States - - - - - 1 Johan den Dunnen
+/. - c.992-2A>G r.spl? p.? Maternal (confirmed) - pathogenic g.135095506A>G g.136013347A>G NM_006359.2:c.1052-2A>G - SLC9A6_000019 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.992G>A r.(?) p.(Gly331Asp) Unknown - likely pathogenic g.135095508G>A g.136013349G>A NM_006359.2:c.1052G>A - SLC9A6_000043 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam1 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
?/. 9 c.1029A>C r.(?) p.(Ala343=) Parent #1 - VUS g.135095545A>C g.136013386A>C NM_006359.2:c.1089A>C (A363A) - SLC9A6_000001 found once, non-recurrent change Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. 9i c.1080+31C>A r.(=) p.? Parent #1 - benign g.135095627C>A g.136013468C>A NM_006359.2:c.1236+31C>A - SLC9A6_000007 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - rs2291639 Not applicable - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-/. 9i c.1080+31C>A r.(=) p.? Parent #1 - benign g.135095627C>A g.136013468C>A NM_006359.2:c.1236+31C>A - SLC9A6_000007 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ - - MRX;IDX - - - ? - - ? - - - - 1 Birgit Neitzel
?/. 9i c.1080+68del r.(?) p.? Unknown - VUS g.135095664del g.136013505del NM_006359.2:c.1140+68del - SLC9A6_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.(1080+1_1081-557)_(*92045_*93117)del r.? p.? Maternal (confirmed) - pathogenic g.(135095597_135098247)_(135218928_135220000)del g.(136013438_136016088)_(136136769_136137841)del chrX:135098247–135218928del(hg19) (c.1237-557_UTRdel) - SLC9A6_000039 120.7 kb deletion PubMed: Pescosolido 2014 - - Germline yes - - - - DNA SEQ - - MRX;IDX Fam10 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother/sister M no United States - - - - - 3 Johan den Dunnen
-/. 10i c.1195-63G>A r.(=) p.? Parent #1 - benign g.135104682G>A g.136022523G>A NM_006359.2:c.1351-63G>A - SLC9A6_000008 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ - - MRX;IDX - - - ? - - ? - - - - 1 Birgit Neitzel
-/. 10i c.1195-63G>A r.(=) p.? Parent #1 - benign g.135104682G>A g.136022523G>A NM_006359.2:c.1351-63G>A - SLC9A6_000008 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - rs6654309 Not applicable - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.1259dup r.(?) p.(Arg421LysfsTer3) Unknown - pathogenic g.135104809dup g.136022650dup NM_001042537 1414dupA - SLC9A6_000044 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam2 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
+?/. - c.1297_1299del r.(?) p.(Met433del) Unknown - likely pathogenic g.135104847_135104849del g.136022688_136022690del NM_006359.3:c.1357_1359del - SLC9A6_000083 - PubMed: Yamamoto 2025 - - Germline/De novo (untested) - - - - - DNA SEQ - - PD Pat1 PubMed: Yamamoto 2025 patient F - Japan - - - - - 1 Johan den Dunnen
-/. 11i c.1306+8G>A r.(=) p.? Parent #1 - benign g.135104864G>A g.136022705G>A NM_006359.2:c.1462+8G>A - SLC9A6_000009 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ - - MRX;IDX - - - ? - - ? - - - - 1 Birgit Neitzel
-/. 11i c.1306+8G>A r.(=) p.? Parent #1 - benign g.135104864G>A g.136022705G>A NM_006359.2:c.1462+8G>A - SLC9A6_000009 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - rs6654310 Not applicable - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1342C>T r.(?) p.(Arg448Ter) Parent #1 - pathogenic g.135106524C>T g.136024365C>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 - - - - DNA SEQ - - MRX;IDX Fam2 PubMed: Gilfillan 2008, PubMed: Tarpey 2009 3-generation family, 2 affected males, 3 female carriers unaffected M - Sweden - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
+/. - c.1342C>T r.(?) p.(Arg448Ter) Maternal (confirmed) - pathogenic g.135106524C>T g.136024365C>T NM_006359.2:c.1402C>T - SLC9A6_000002 - PubMed: Pescosolido 2014 - - Germline yes - - - - DNA SEQ - - MRX;IDX Fam9 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - - - - 2 Johan den Dunnen
+/. - c.1342C>T r.(?) p.(Arg448Ter) Maternal (confirmed) - pathogenic g.135106524C>T g.136024365C>T NM_006359.2:c.1402C>T - SLC9A6_000002 - PubMed: Pescosolido 2014 - - Germline yes - - - - DNA SEQ - - MRX;IDX Fam12 PubMed: Pescosolido 2014 3-generation family, affected male, unaffected carrier mother M no United States - - - - - 2 Johan den Dunnen
+/. - c.1342C>T r.(?) p.(Arg448Ter) Maternal (confirmed) - pathogenic g.135106524C>T g.136024365C>T NM_006359.2:c.1402C>T - SLC9A6_000002 - PubMed: Hamdan 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0337 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.1359T>C r.(?) p.(Tyr453=) Unknown - likely benign g.135106541T>C g.136024382T>C SLC9A6(NM_001042537.1):c.1515T>C (p.Y505=) - SLC9A6_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1398_1399del r.(?) p.(Phe468TyrfsTer23) Unknown - likely pathogenic g.135106580_135106581del g.136024421_136024422del NM_006359.2:c.1458_1459del - SLC9A6_000063 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411275 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1404dup r.(1404dup) p.(Thr469TyrfsTer23) Maternal (confirmed) - pathogenic (recessive) g.135106586dup g.136024427dup NM_006359.2:c.1464_1465insT - SLC9A6_000079 - PubMed: Riess 2016 - - Germline yes - - - - DNA SEQ - - ID Fam1 PubMed: Riess 2016 4-generation family, 3 affected (3M), unaffected carrier female M no Germany - - - - - 3 Johan den Dunnen
+/. - c.1412G>A r.(?) p.(Trp471Ter) Unknown - pathogenic g.135106594G>A g.136024435G>A NM_006359.2:c.1472G>A - SLC9A6_000045 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam4 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
+/. - c.1421del r.(?) p.(Gly474ValfsTer26) Maternal (confirmed) - pathogenic g.135106603del g.136024444del SLC9A6 G494Vfs*53 - SLC9A6_000047 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamM2 PubMed: Hu 2016 family, 5 affected, 10 unaffected heterozygous carrier females M - - - - - - - 5 Johan den Dunnen
-/. 12i c.1551-63T>C r.(=) p.? Parent #1 - benign g.135112228T>C g.136030069T>C NM_006359.2:c.1617-63T>C - SLC9A6_000010 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ - - MRX;IDX - - - ? - - ? - - - - 1 Birgit Neitzel
-/. 12i c.1551-63T>C r.(=) p.? Parent #1 - benign g.135112228T>C g.136030069T>C NM_006359.2:c.1617-63T>C - SLC9A6_000010 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - rs10521848 Not applicable - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.1573G>T r.(?) p.(Glu525Ter) Maternal (confirmed) - pathogenic g.135112313G>T g.136030154G>T NM_006359.2:c.1543G>T - SLC9A6_000038 - PubMed: Pescosolido 2014 - - Germline yes - - - - DNA SEQ - - MRX;IDX Fam11 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - - - - 3 Johan den Dunnen
+/. - c.1573G>T r.(?) p.(Glu525Ter) Maternal (confirmed) - pathogenic g.135112313G>T g.136030154G>T NM_006359.2:c.1543G>T - SLC9A6_000038 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - - - 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 - - - - - 3 Johan den Dunnen
+?/. 14 c.1637G>A r.(?) p.(Arg546Gln) Parent #1 - likely pathogenic g.135115628G>A g.136033469G>A NM_006359.2:c.1607G>A (R536Q) - SLC9A6_000003 found once, non-recurrent change Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.1644G>A r.(?) p.(Trp548Ter) Unknown - pathogenic g.135115635G>A g.136033476G>A NM_006359.2:c.1614G>A - SLC9A6_000046 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam3 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
+/. - c.1644G>A r.(?) p.(Trp548Ter) Unknown - pathogenic g.135115635G>A g.136033476G>A NM_006359.2:c.1614G>A - SLC9A6_000046 - PubMed: Pescosolido 2014 - - Germline - - - - - DNA SEQ - - MRX;IDX Fam7 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - - - - 1 Johan den Dunnen
?/. 14i c.1661+113_1661+114insC r.(?) p.? Maternal (inferred) - VUS g.135115765_135115766insC g.136033606_136033607insC NM_006359.2:c.1631+113_1631+114insC - SLC9A6_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.1662-4G>A r.spl? p.? Parent #1 - benign g.135122231G>A g.136040072G>A NM_001042537.1:c.1728-4G>A - SLC9A6_000018 - - - rs188672063 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. 15 c.1689C>T r.(?) p.(Ser563=) Parent #1 - VUS g.135122262C>T g.136040103C>T NM_006359.2:c.1659C>T (S553S) - SLC9A6_000004 recurrent, found 9 times Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline ? 9/208 cases - - - DNA SEQ - - MRX;IDX Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
-/. 15 c.1689C>T r.(?) p.(Ser563=) Parent #1 - benign g.135122262C>T g.136040103C>T NM_006359.2:c.1755C>T - SLC9A6_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Unknown ? - - - - DNA SEQ - - MRX;IDX - - - ? - - ? - - - - 1 Birgit Neitzel
-/. 15 c.1689C>T r.(?) p.(Ser563=) Parent #1 - benign g.135122262C>T g.136040103C>T NM_006359.2:c.1755C>T - SLC9A6_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - rs2307131 Not applicable - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1734C>T r.(?) p.(Ile578=) Unknown - likely benign g.135122307C>T g.136040148C>T SLC9A6(NM_001379110.1):c.1734C>T (p.(Ile578=)) - SLC9A6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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