SLC9A6 — 563 ClinVar variants
All ClinVar germline SLC9A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
39 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 14 Conflicting · 35 Benign · 21 Benign/Likely benign · 198 Likely benign · 225 Uncertain significance
Full SLC9A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC9A6 c.-53G>C
Conflicting
Single submitter
Inborn genetic diseases
-
SLC9A6 p.Asn673Ser
Conflicting
Single submitter
Christianson syndrome
-
SLC9A6 p.Glu533Asp
Conflicting
Single submitter
Christianson syndrome
-
SLC9A6 p.Pro71Leu
Conflicting
Single submitter
Christianson syndrome
-
SLC9A6 p.Ser625Gly
Conflicting
Single submitter
Christianson syndrome
-
SLC9A6 p.Thr183Met
Conflicting
Single submitter
Christianson syndrome
Predictors lean, ClinVar uncertain 104
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC9A6 c.-20G>A
Uncertain significance
Expert panel
Christianson syndrome
-
SLC9A6 p.Ala163Thr
Uncertain significance
Expert panel
Christianson syndrome
-
SLC9A6 c.-35G>A
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 c.-56-21C>A
Uncertain significance
Multiple submitters
SLC9A6-related disorder
-
SLC9A6 c.-56-31C>T
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Ala192Ser
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Ala626Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC9A6 p.Arg438His
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Asp647Asn
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Gln593Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC9A6 p.Gly180Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC9A6 p.Gly378Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC9A6 p.His485Arg
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Ile177Val
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Pro212Ala
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Pro530Thr
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Pro666Ser
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Ser80Asn
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Ser86Gly
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Thr188Met
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Thr352Met
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 p.Thr88Ala
Uncertain significance
Multiple submitters
Christianson syndrome
-
SLC9A6 c.-23G>A
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 c.-27G>A Uncertain significance Single submitter
-
SLC9A6 c.-45G>A
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 c.-51G>A
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC9A6 c.-56-19C>T Uncertain significance Single submitter
-
SLC9A6 c.-56-22C>T
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 c.-56-28A>C Uncertain significance Single submitter
- SLC9A6 c.-56-34A>G Uncertain significance Single submitter
-
SLC9A6 c.-56-36G>A
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 c.-56-37C>G Uncertain significance Single submitter
-
SLC9A6 c.-56-4G>T
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 c.-5G>C
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ala161Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC9A6 p.Ala256Pro
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ala256Thr
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ala288Thr
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ala324Val
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ala397Glu
Uncertain significance
Single submitter
astigmatism
-
SLC9A6 p.Ala573Gly
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ala579Ser
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Arg154Gln
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Arg438Leu
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Asn259Asp
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Asn386Ser
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Asn408Ser
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Asn669Asp
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Asn669Ser
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Asp647Gly
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Cys574Tyr
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Gln10Arg
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Gln190Arg
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Gln190His
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Gln591Pro Uncertain significance Single submitter
-
SLC9A6 p.Glu642Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC9A6 p.Glu8Gln
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Gly166Glu Uncertain significance Single submitter
- SLC9A6 p.Gly425Glu Uncertain significance Single submitter
-
SLC9A6 p.Gly474Cys
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Gly528Ser
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Gly606Val
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ile134Val
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ile218Val
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Ile244Val Uncertain significance Single submitter
-
SLC9A6 p.Ile272Val
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ile401Val
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ile5Leu
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Leu160Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC9A6 p.Leu232His
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Leu381Pro Uncertain significance Single submitter
-
SLC9A6 p.Leu671Val
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Lys301Arg
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Lys9Arg Uncertain significance Single submitter
-
SLC9A6 p.Met441Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC9A6 p.Met631Val
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Phe152Cys
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Phe152Val Uncertain significance Single submitter
-
SLC9A6 p.Phe645Cys
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Pro391Ser Uncertain significance Single submitter
-
SLC9A6 p.Pro530Ala
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Pro572Thr Uncertain significance Single submitter
-
SLC9A6 p.Pro667Leu
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Pro71Ala Uncertain significance Single submitter
-
SLC9A6 p.Pro71Ser
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ser176Leu
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ser208Thr
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ser609Asn
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Ser615Cys Uncertain significance Single submitter
-
SLC9A6 p.Ser624Cys
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ser624Tyr
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Ser635Cys
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Thr320Ile Uncertain significance Single submitter
-
SLC9A6 p.Thr78Asn
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Tyr196His Uncertain significance Single submitter
- SLC9A6 p.Tyr345Ser Uncertain significance Single submitter
-
SLC9A6 p.Tyr555Cys
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Val187Ile
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Val207Leu Uncertain significance Single submitter
-
SLC9A6 p.Val395Ile
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Val520Ile Uncertain significance Single submitter
- SLC9A6 p.Val617Met Uncertain significance Single submitter
-
SLC9A6 p.Val651Ile
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Val70Phe
Uncertain significance
Single submitter
Christianson syndrome
Predictors split 8
The independent predictors disagree with each other — read with care.
-
SLC9A6 p.Ile652Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC9A6 p.Glu227Lys Uncertain significance Single submitter
- SLC9A6 p.Leu307Phe Uncertain significance Single submitter
-
SLC9A6 p.Phe203Leu
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Phe299Leu
Uncertain significance
Single submitter
Christianson syndrome
-
SLC9A6 p.Val124Phe
Uncertain significance
Single submitter
Christianson syndrome
- SLC9A6 p.Val60Met Uncertain significance Single submitter
-
SLC9A6 p.Leu322Val
Uncertain significance
No assertion criteria
Christianson syndrome
All SLC9A6 variants
Pathogenic 39
- c.370-9_370-5del Expert panel Christianson syndrome
- c.448-1G>A Expert panel Christianson syndrome
- p.Gln306Ter Expert panel Christianson syndrome
- c.743+1G>A Multiple submitters Christianson syndrome
- p.Arg448Ter Multiple submitters Christianson syndrome
- c.509_510delGA Single submitter
- c.585dupG Single submitter
- c.637+1G>A Single submitter intellectual disability
- c.886-1C>A Single submitter Christianson syndrome
- p.Arg149fs Single submitter Christianson syndrome
- p.Arg154fs Single submitter
- p.Arg534fs Single submitter Christianson syndrome
- p.Asn408fs Single submitter
- p.Gln342Ter Single submitter Christianson syndrome
- p.Gln524Ter Single submitter
- p.Gly331Asp Single submitter Christianson syndrome
- p.Gly396Ter Single submitter Christianson syndrome
- p.His562fs Single submitter Christianson syndrome
- p.Leu381fs Single submitter Christianson syndrome
- p.Leu416fs Single submitter Christianson syndrome
- p.Leu64fs Single submitter
- p.Leu671Ter Single submitter Christianson syndrome
- p.Lys270fs Single submitter Christianson syndrome
- p.Lys9fs Single submitter Christianson syndrome
- p.Phe141fs Single submitter Christianson syndrome
- p.Phe473fs Single submitter Christianson syndrome
- p.Ser158fs Single submitter Inborn genetic diseases
- p.Thr266fs Single submitter
- p.Trp318Ter Single submitter Christianson syndrome
- p.Trp327Ter Single submitter Christianson syndrome
- p.Trp548fs Single submitter Christianson syndrome
- c.1307-1G>A No assertion criteria Christianson syndrome
- c.447+3_447+4delinsCC No assertion criteria Christianson syndrome
- c.916delC No assertion criteria Christianson syndrome
- p.Ala243fs No assertion criteria Christianson syndrome
- p.Glu235_Ser236del No assertion criteria Christianson syndrome
- p.Glu525Ter No assertion criteria Christianson syndrome
- p.Gly286_Ala288del No assertion criteria Christianson syndrome
- p.His151fs No assertion criteria Christianson syndrome
Pathogenic/Likely pathogenic 5
- c.1661+1G>A Multiple submitters
- c.743+3_743+6del Multiple submitters Christianson syndrome
- p.Arg154Ter Multiple submitters Christianson syndrome
- p.Met480fs Multiple submitters SLC9A6-related disorder
- p.Phe382fs Multiple submitters Christianson syndrome
Likely pathogenic 26
- c.1583del Single submitter Christianson syndrome
- c.1662-19_1662-3del Single submitter
- c.169+4402_370-1100dup Single submitter Christianson syndrome
- c.448-9_459del Single submitter Christianson syndrome
- c.638-1G>A Single submitter Christianson syndrome
- c.638-2A>G Single submitter Christianson syndrome
- c.743+2dup Single submitter
- c.886-1C>T Single submitter
- c.991+1G>A Single submitter Christianson syndrome
- p.Ala397fs Single submitter Christianson syndrome
- p.Ala542fs Single submitter Christianson syndrome
- p.Cys171Tyr Single submitter
- p.Gln10Ter Single submitter Christianson syndrome
- p.Gly331Arg Single submitter
- p.Gly439Asp Single submitter Christianson syndrome
- p.Gly475fs Single submitter Christianson syndrome
- p.Gly57Asp Single submitter Christianson syndrome
- p.Gly57Val Single submitter Christianson syndrome
- p.His387Tyr Single submitter
- p.Leu232del Single submitter Christianson syndrome
- p.Lys148fs Single submitter
- p.Trp471Ter Single submitter Christianson syndrome
- p.Glu325Lys No assertion criteria Christianson syndrome
- p.Gly189fs No assertion criteria SLC9A6-related disorder
- p.Gly396Arg No assertion criteria Christianson syndrome
- p.Pro138His No assertion criteria Christianson syndrome
Conflicting classifications of pathogenicity 14
- c.1080+17A>G Single submitter Christianson syndrome
- c.1582-9T>C Single submitter Christianson syndrome
- c.524+3A>G Single submitter Christianson syndrome
- c.524+5G>A Single submitter Christianson syndrome
- c.-53G>C Single submitter Inborn genetic diseases ⚠
- p.Ala267Val Single submitter intellectual disability
- p.Asn113Ser Single submitter
- p.Asn673Ser Single submitter Christianson syndrome ⚠
- p.Glu533Asp Single submitter Christianson syndrome ⚠
- p.Gly519Ser Single submitter Christianson syndrome
- p.Pro71Leu Single submitter Christianson syndrome ⚠
- p.Ser19Gly Single submitter Christianson syndrome
- p.Ser625Gly Single submitter Christianson syndrome ⚠
- p.Thr183Met Single submitter Christianson syndrome ⚠
Benign 35
- c.1582-3C>T Expert panel Christianson syndrome
- c.-4A>G Expert panel Christianson syndrome
- c.*12C>T Expert panel Christianson syndrome
- c.*5_*8delinsTT Expert panel Christianson syndrome
- c.*8A>T Expert panel Christianson syndrome
- p.Ile373= Expert panel Christianson syndrome
- p.Leu361= Expert panel Christianson syndrome
- p.Lys423Asn Expert panel Christianson syndrome
- p.Ser460= Expert panel Christianson syndrome
- p.Thr674Met Expert panel Christianson syndrome
- c.1080+31C>A Multiple submitters
- c.1195-63G>A Multiple submitters
- c.1460+10A>G Multiple submitters Christianson syndrome
- c.1551-63T>C Multiple submitters
- c.1662-4G>A Multiple submitters Inborn genetic diseases
- c.448-71G>C Multiple submitters
- c.744-6C>T Multiple submitters Christianson syndrome
- c.1080+10A>G Single submitter Christianson syndrome
- c.1307-13T>C Single submitter Christianson syndrome
- c.1581+16del Single submitter Christianson syndrome
- c.1661+114_1661+172del Single submitter
- c.1661+28dup Single submitter Christianson syndrome
- c.1768-167T>G Single submitter
- c.638-10dup Single submitter Christianson syndrome
- c.744-208dup Single submitter
- c.744-209_744-208dup Single submitter
- c.886-297T>C Single submitter
- c.-368G>A Single submitter
- c.-56-35C>G Single submitter Christianson syndrome
- p.Arg629= Single submitter Christianson syndrome
- p.Arg641Gln Single submitter Christianson syndrome
- p.Glu353= Single submitter Christianson syndrome
- p.Thr674= Single submitter Christianson syndrome
- p.Tyr162= Single submitter Christianson syndrome
- p.Val74Ile Single submitter Christianson syndrome
Benign/Likely benign 21
- c.1080+80dup Multiple submitters Christianson syndrome
- c.1306+8G>A Multiple submitters Inborn genetic diseases
- c.1307-12G>C Multiple submitters Christianson syndrome
- c.1460+4A>G Multiple submitters Inborn genetic diseases
- c.1460+6T>C Multiple submitters Christianson syndrome
- c.1581+11G>A Multiple submitters Christianson syndrome
- c.1661+28del Multiple submitters Christianson syndrome
- c.170-16T>A Multiple submitters Christianson syndrome
- c.448-6del Multiple submitters Christianson syndrome
- c.448-6dup Multiple submitters Inborn genetic diseases
- c.448-7_448-6dup Multiple submitters Christianson syndrome
- c.992-4A>G Multiple submitters Christianson syndrome
- c.*5_*6del Multiple submitters Inborn genetic diseases
- p.Ala267= Multiple submitters Christianson syndrome
- p.Ala343= Multiple submitters Inborn genetic diseases
- p.Arg546Gln Multiple submitters Inborn genetic diseases
- p.Ser158= Multiple submitters Inborn genetic diseases
- p.Ser19= Multiple submitters Christianson syndrome
- p.Ser563= Multiple submitters Inborn genetic diseases
- p.Thr188= Multiple submitters Christianson syndrome
- p.Val335= Multiple submitters Inborn genetic diseases
Likely benign 198
- c.1768-6A>G Expert panel Christianson syndrome
- c.638-5A>G Expert panel Christianson syndrome
- c.-16C>T Expert panel Christianson syndrome
- c.-56-25C>G Expert panel Christianson syndrome
- c.-9G>T Expert panel Christianson syndrome
- p.His151Leu Expert panel Christianson syndrome
- p.Ile578= Expert panel Christianson syndrome
- p.Ile5Met Expert panel Christianson syndrome
- p.Phe172= Expert panel Christianson syndrome
- p.Pro667= Expert panel Christianson syndrome
- p.Val173Ile Expert panel Christianson syndrome
- c.1081-8C>T Multiple submitters Christianson syndrome
- c.1551-11T>C Multiple submitters Christianson syndrome
- c.1551-98T>G Multiple submitters
- c.1581+17G>A Multiple submitters Christianson syndrome
- c.169+14C>G Multiple submitters Christianson syndrome
- c.170-125C>T Multiple submitters
- c.744-7T>C Multiple submitters Christianson syndrome
- p.Ala284= Multiple submitters Inborn genetic diseases
- p.Asn390= Multiple submitters Christianson syndrome
- p.Asn76= Multiple submitters Inborn genetic diseases
- p.Gln429= Multiple submitters Christianson syndrome
- p.Gly613= Multiple submitters Christianson syndrome
- p.His526= Multiple submitters Christianson syndrome
- p.Ile409= Multiple submitters Christianson syndrome
- p.Leu381= Multiple submitters Christianson syndrome
- p.Leu463= Multiple submitters Christianson syndrome
- p.Pro621= Multiple submitters Christianson syndrome
- p.Pro621Leu Multiple submitters Inborn genetic diseases
- p.Ser14= Multiple submitters Christianson syndrome
- p.Thr183= Multiple submitters Inborn genetic diseases
- p.Thr346= Multiple submitters Christianson syndrome
- p.Thr478= Multiple submitters Christianson syndrome
- p.Thr611= Multiple submitters Inborn genetic diseases
- p.Thr619= Multiple submitters Christianson syndrome
- p.Thr623= Multiple submitters Christianson syndrome
- p.Val388= Multiple submitters Christianson syndrome
- c.1080+12T>G Single submitter Christianson syndrome
- c.1080+14T>C Single submitter Christianson syndrome
- c.1080+7G>A Single submitter Christianson syndrome
- c.1081-18T>C Single submitter Christianson syndrome
- c.1081-7G>A Single submitter Christianson syndrome
- c.1194+15G>A Single submitter Christianson syndrome
- c.1194+16T>C Single submitter Christianson syndrome
- c.1195-13T>C Single submitter Christianson syndrome
- c.1195-4_1201delinsAGGTTGCTG Single submitter intellectual disability
- c.1195-4T>G Single submitter
- c.1195-9T>C Single submitter Christianson syndrome
- c.1306+15_1306+18del Single submitter Christianson syndrome
- c.1306+16C>G Single submitter Christianson syndrome
- c.1307-17T>C Single submitter Christianson syndrome
- c.1307-19C>T Single submitter Christianson syndrome
- c.1307-20C>T Single submitter Christianson syndrome
- c.1307-298A>G Single submitter
- c.1307-9C>T Single submitter Christianson syndrome
- c.1460+14A>G Single submitter
- c.1460+20C>T Single submitter Christianson syndrome
- c.1546_1550+10del Single submitter Christianson syndrome
- c.1551-15G>C Single submitter Christianson syndrome
- c.1551-18T>G Single submitter Christianson syndrome
- c.1551-19C>T Single submitter Christianson syndrome
- c.1551-6C>T Single submitter Christianson syndrome
- c.1551-9C>G Single submitter Christianson syndrome
- c.1581+10C>T Single submitter
- c.1581+15T>C Single submitter Christianson syndrome
- c.1581+16T>C Single submitter Christianson syndrome
- c.1581+20G>A Single submitter Christianson syndrome
- c.1582-12A>G Single submitter
- c.1582-6C>A Single submitter Christianson syndrome
- c.1661+18A>G Single submitter Christianson syndrome
- c.1661+27_1661+28del Single submitter
- c.1662-11A>T Single submitter Christianson syndrome
- c.1662-6C>T Single submitter Christianson syndrome
- c.169+14C>T Single submitter Christianson syndrome
- c.169+15C>T Single submitter Christianson syndrome
- c.169+18T>C Single submitter Christianson syndrome
- c.170-11C>T Single submitter Christianson syndrome
- c.170-14G>T Single submitter Christianson syndrome
- c.170-15T>C Single submitter Christianson syndrome
- c.170-197A>G Single submitter
- c.170-6T>A Single submitter
- c.1767+12T>G Single submitter Christianson syndrome
- c.1767+9G>A Single submitter Christianson syndrome
- c.1768-13T>A Single submitter Christianson syndrome
- c.1768-17dup Single submitter Christianson syndrome
- c.1768-219A>G Single submitter
- c.370-8T>C Single submitter
- c.447+20A>C Single submitter Christianson syndrome
- c.447+20A>G Single submitter Christianson syndrome
- c.448-5G>T Single submitter
- c.448-8_448-7insG Single submitter Christianson syndrome
- c.448-9_448-8insC Single submitter Christianson syndrome
- c.524+8_524+12del Single submitter Christianson syndrome
- c.637+12del Single submitter Christianson syndrome
- c.637+16G>A Single submitter Christianson syndrome
- c.637+206dup Single submitter
- c.638-18A>C Single submitter Christianson syndrome
- c.638-8C>T Single submitter Christianson syndrome
- c.743+11_743+14del Single submitter Christianson syndrome
- c.743+11G>C Single submitter Christianson syndrome
- c.744-12T>C Single submitter Christianson syndrome
- c.744-18G>A Single submitter Christianson syndrome
- c.744-208del Single submitter
- c.744-48dup Single submitter
- c.885+10T>C Single submitter Christianson syndrome
- c.885+14A>G Single submitter Christianson syndrome
- c.885+179G>A Single submitter
- c.886-17A>G Single submitter Christianson syndrome
- c.886-20A>G Single submitter
- c.991+15C>G Single submitter Christianson syndrome
- c.-13A>C Single submitter Christianson syndrome
- c.-19C>A Single submitter Christianson syndrome
- c.-1C>T Single submitter Christianson syndrome
- c.-25C>T Single submitter Christianson syndrome
- c.-349C>T Single submitter
- c.-43C>T Single submitter Inborn genetic diseases
- c.-56-17T>G Single submitter Christianson syndrome
- c.-56-32G>A Single submitter Christianson syndrome
- c.-56-7C>A Single submitter Christianson syndrome
- c.*16C>G Single submitter
- c.*7T>C Single submitter
- p.Ala161= Single submitter Christianson syndrome
- p.Ala168= Single submitter Christianson syndrome
- p.Ala252= Single submitter Christianson syndrome
- p.Ala446= Single submitter Christianson syndrome
- p.Ala451= Single submitter
- p.Ala679= Single submitter Christianson syndrome
- p.Arg150= Single submitter Christianson syndrome
- p.Asn239= Single submitter Christianson syndrome
- p.Asn366= Single submitter Christianson syndrome
- p.Asn590= Single submitter Christianson syndrome
- p.Asn604= Single submitter
- p.Asn618His Single submitter Inborn genetic diseases
- p.Asn633= Single submitter Christianson syndrome
- p.Asn673= Single submitter Christianson syndrome
- p.Asp18= Single submitter Christianson syndrome
- p.Asp607= Single submitter
- p.Gln342= Single submitter Christianson syndrome
- p.Gln524= Single submitter Christianson syndrome
- p.Glu221= Single submitter Christianson syndrome
- p.Glu525= Single submitter Christianson syndrome
- p.Gly157= Single submitter Christianson syndrome
- p.Gly175= Single submitter Christianson syndrome
- p.Gly273= Single submitter Christianson syndrome
- p.Gly311= Single submitter Christianson syndrome
- p.Gly476= Single submitter Christianson syndrome
- p.Gly576= Single submitter Christianson syndrome
- p.Gly61= Single submitter Christianson syndrome
- p.Gly646= Single submitter Inborn genetic diseases
- p.Gly677= Single submitter Christianson syndrome
- p.His220= Single submitter Christianson syndrome
- p.His501= Single submitter
- p.His69Arg Single submitter Christianson syndrome
- p.Ile107= Single submitter
- p.Ile5= Single submitter Christianson syndrome
- p.Leu201= Single submitter Christianson syndrome
- p.Leu246= Single submitter Christianson syndrome
- p.Leu276= Single submitter Christianson syndrome
- p.Leu312= Single submitter Christianson syndrome
- p.Leu336= Single submitter Christianson syndrome
- p.Leu560= Single submitter Christianson syndrome
- p.Leu582= Single submitter Christianson syndrome
- p.Leu668= Single submitter Christianson syndrome
- p.Lys557= Single submitter
- p.Lys97Arg Single submitter Christianson syndrome
- p.Phe153= Single submitter Christianson syndrome
- p.Phe164= Single submitter Christianson syndrome
- p.Phe203= Single submitter Christianson syndrome
- p.Phe219= Single submitter Christianson syndrome
- p.Phe279= Single submitter
- p.Pro530= Single submitter Christianson syndrome
- p.Pro566= Single submitter Christianson syndrome
- p.Pro660= Single submitter
- p.Pro71= Single submitter Christianson syndrome
- p.Pro87= Single submitter Christianson syndrome
- p.Ser413= Single submitter Christianson syndrome
- p.Ser426= Single submitter Christianson syndrome
- p.Ser522= Single submitter Christianson syndrome
- p.Ser615Phe Single submitter Christianson syndrome
- p.Ser625= Single submitter Christianson syndrome
- p.Ser634Gly Single submitter Christianson syndrome
- p.Ser664= Single submitter Christianson syndrome
- p.Ser7= Single submitter Christianson syndrome
- p.Ser95Gly Single submitter Christianson syndrome
- p.Ter680= Single submitter Christianson syndrome
- p.Thr198= Single submitter Christianson syndrome
- p.Thr210= Single submitter Christianson syndrome
- p.Thr262= Single submitter Inborn genetic diseases
- p.Thr300= Single submitter
- p.Thr320= Single submitter Christianson syndrome
- p.Tyr376= Single submitter Christianson syndrome
- p.Tyr453= Single submitter Christianson syndrome
- p.Tyr588= Single submitter Christianson syndrome
- p.Val124= Single submitter Christianson syndrome
- p.Val124Ile Single submitter
- p.Val399Ile Single submitter Inborn genetic diseases
- p.Val651= Single submitter Christianson syndrome
- p.Leu135= No assertion criteria SLC9A6-related disorder
Uncertain significance 225
- c.-20G>A Expert panel Christianson syndrome ⚠
- p.Ala163Thr Expert panel Christianson syndrome ⚠
- p.Thr462Met Expert panel Christianson syndrome
- c.885+5C>T Multiple submitters Christianson syndrome
- c.885+7T>G Multiple submitters Christianson syndrome
- c.-35G>A Multiple submitters Christianson syndrome ⚠
- c.-56-21C>A Multiple submitters SLC9A6-related disorder ⚠
- c.-56-31C>T Multiple submitters Christianson syndrome ⚠
- p.Ala192Ser Multiple submitters Christianson syndrome ⚠
- p.Ala579Thr Multiple submitters Christianson syndrome
- p.Ala626Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg150Gly Multiple submitters Christianson syndrome
- p.Arg357Thr Multiple submitters
- p.Arg438His Multiple submitters Christianson syndrome ⚠
- p.Arg580Trp Multiple submitters Christianson syndrome
- p.Arg656Cys Multiple submitters Christianson syndrome
- p.Arg656His Multiple submitters Inborn genetic diseases
- p.Asp225Gly Multiple submitters Christianson syndrome
- p.Asp647Asn Multiple submitters Christianson syndrome ⚠
- p.Gln593Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu589Lys Multiple submitters Christianson syndrome
- p.Gly180Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly378Arg Multiple submitters Inborn genetic diseases ⚠
- p.His485Arg Multiple submitters Christianson syndrome ⚠
- p.Ile159Val Multiple submitters Christianson syndrome
- p.Ile177Val Multiple submitters Christianson syndrome ⚠
- p.Ile652Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu463Phe Multiple submitters Christianson syndrome
- p.Leu567Pro Multiple submitters Christianson syndrome
- p.Met178Ile Multiple submitters Christianson syndrome
- p.Met661Ile Multiple submitters Christianson syndrome
- p.Phe275Leu Multiple submitters Christianson syndrome
- p.Pro212Ala Multiple submitters Christianson syndrome ⚠
- p.Pro391Thr Multiple submitters Christianson syndrome
- p.Pro530Thr Multiple submitters Christianson syndrome ⚠
- p.Pro666Ser Multiple submitters Christianson syndrome ⚠
- p.Ser248Phe Multiple submitters Christianson syndrome
- p.Ser460Gly Multiple submitters Christianson syndrome
- p.Ser80Asn Multiple submitters Christianson syndrome ⚠
- p.Ser86Gly Multiple submitters Christianson syndrome ⚠
- p.Thr188Met Multiple submitters Christianson syndrome ⚠
- p.Thr352Met Multiple submitters Christianson syndrome ⚠
- p.Thr88Ala Multiple submitters Christianson syndrome ⚠
- p.Tyr142Cys Multiple submitters Christianson syndrome
- c.1081-3C>T Single submitter Christianson syndrome
- c.1307-8C>T Single submitter Christianson syndrome
- c.1550+1G>A Single submitter Christianson syndrome
- c.1551-5T>C Single submitter
- c.1582-35del Single submitter intellectual disability
- c.1767+4A>G Single submitter Christianson syndrome
- c.1768-9T>G Single submitter
- c.370-3C>T Single submitter Christianson syndrome
- c.525-13_525-10del Single submitter
- c.886-8A>G Single submitter
- c.992-3T>C Single submitter Christianson syndrome
- c.-23G>A Single submitter Christianson syndrome ⚠
- c.-25CGG[5] Single submitter
- c.-27G>A Single submitter ⚠
- c.-45G>A Single submitter Christianson syndrome ⚠
- c.-51G>A Single submitter Inborn genetic diseases ⚠
- c.-56-19C>T Single submitter ⚠
- c.-56-22C>T Single submitter Christianson syndrome ⚠
- c.-56-28A>C Single submitter ⚠
- c.-56-34A>G Single submitter ⚠
- c.-56-36G>A Single submitter Christianson syndrome ⚠
- c.-56-37C>G Single submitter ⚠
- c.-56-4G>T Single submitter Christianson syndrome ⚠
- c.-5G>C Single submitter Christianson syndrome ⚠
- c.*1G>C Single submitter
- c.*4T>C Single submitter
- c.*6C>T Single submitter
- p.Ala161Ser Single submitter Inborn genetic diseases ⚠
- p.Ala256Pro Single submitter Christianson syndrome ⚠
- p.Ala256Thr Single submitter Christianson syndrome ⚠
- p.Ala288Thr Single submitter Christianson syndrome ⚠
- p.Ala294Val Single submitter
- p.Ala324Val Single submitter Christianson syndrome ⚠
- p.Ala397Glu Single submitter astigmatism ⚠
- p.Ala444Thr Single submitter Christianson syndrome
- p.Ala446Val Single submitter
- p.Ala573Gly Single submitter Christianson syndrome ⚠
- p.Ala579Ser Single submitter Christianson syndrome ⚠
- p.Arg150Ile Single submitter
- p.Arg154Gln Single submitter Christianson syndrome ⚠
- p.Arg303Leu Single submitter
- p.Arg421del Single submitter Inborn genetic diseases
- p.Arg438Leu Single submitter Christianson syndrome ⚠
- p.Arg546= Single submitter Christianson syndrome
- p.Arg546Trp Single submitter Christianson syndrome
- p.Arg641Trp Single submitter Christianson syndrome
- p.Arg653Gln Single submitter Christianson syndrome
- p.Arg653Leu Single submitter Christianson syndrome
- p.Asn239Ser Single submitter
- p.Asn259Asp Single submitter Christianson syndrome ⚠
- p.Asn348His Single submitter
- p.Asn386Ser Single submitter Christianson syndrome ⚠
- p.Asn408Ser Single submitter Christianson syndrome ⚠
- p.Asn550= Single submitter Christianson syndrome
- p.Asn590His Single submitter Christianson syndrome
- p.Asn669Asp Single submitter Christianson syndrome ⚠
- p.Asn669Ser Single submitter Christianson syndrome ⚠
- p.Asp600fs Single submitter
- p.Asp605Val Single submitter Christianson syndrome
- p.Asp647Gly Single submitter Christianson syndrome ⚠
- p.Cys574Tyr Single submitter Christianson syndrome ⚠
- p.Gln10Arg Single submitter Christianson syndrome ⚠
- p.Gln116Ter Single submitter
- p.Gln190Arg Single submitter Christianson syndrome ⚠
- p.Gln190His Single submitter Christianson syndrome ⚠
- p.Gln591Pro Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Glu525Val Single submitter
- p.Glu642Asp Single submitter Inborn genetic diseases ⚠
- p.Glu8Gln Single submitter Christianson syndrome ⚠
- p.Gly166Glu Single submitter ⚠
- p.Gly281Lys Single submitter
- p.Gly311Asp Single submitter Christianson syndrome
- p.Gly328Ser Single submitter Christianson syndrome
- p.Gly425Glu Single submitter ⚠
- p.Gly474Cys Single submitter Christianson syndrome ⚠
- p.Gly528Ser Single submitter Christianson syndrome ⚠
- p.Gly564Arg Single submitter Christianson syndrome
- p.Gly576Glu Single submitter Christianson syndrome
- p.Gly606Val Single submitter Christianson syndrome ⚠
- p.Gly654Arg Single submitter
- p.His151Arg Single submitter Inborn genetic diseases
- p.His151Pro Single submitter
- p.His430Asp Single submitter
- p.His553Arg Single submitter
- p.Ile134Lys Single submitter Christianson syndrome
- p.Ile134Val Single submitter Christianson syndrome ⚠
- p.Ile140Met Single submitter
- p.Ile169Asn Single submitter Inborn genetic diseases
- p.Ile218Val Single submitter Christianson syndrome ⚠
- p.Ile244Arg Single submitter
- p.Ile244Val Single submitter ⚠
- p.Ile250Met Single submitter Christianson syndrome
- p.Ile272Val Single submitter Christianson syndrome ⚠
- p.Ile278Ser Single submitter
- p.Ile401Thr Single submitter
- p.Ile401Val Single submitter Christianson syndrome ⚠
- p.Ile465Thr Single submitter Inborn genetic diseases
- p.Ile5Leu Single submitter Christianson syndrome ⚠
- p.Leu112fs Single submitter Christianson syndrome
- p.Leu160Ile Single submitter Inborn genetic diseases ⚠
- p.Leu228Phe Single submitter Christianson syndrome
- p.Leu232His Single submitter Christianson syndrome ⚠
- p.Leu307Phe Single submitter ⚠
- p.Leu381Pro Single submitter ⚠
- p.Leu463Val Single submitter Inborn genetic diseases
- p.Leu571Phe Single submitter Christianson syndrome
- p.Leu671Val Single submitter Christianson syndrome ⚠
- p.Lys298Glu Single submitter Inborn genetic diseases
- p.Lys301Arg Single submitter Christianson syndrome ⚠
- p.Lys9Arg Single submitter ⚠
- p.Met178Arg Single submitter Christianson syndrome
- p.Met178Thr Single submitter Christianson syndrome
- p.Met268Lys Single submitter
- p.Met268Thr Single submitter Christianson syndrome
- p.Met441Val Single submitter Inborn genetic diseases ⚠
- p.Met480Leu Single submitter
- p.Met480Val Single submitter Christianson syndrome
- p.Met631Val Single submitter Christianson syndrome ⚠
- p.Phe131Leu Single submitter Christianson syndrome
- p.Phe152Cys Single submitter Christianson syndrome ⚠
- p.Phe152Val Single submitter ⚠
- p.Phe153Leu Single submitter
- p.Phe203Leu Single submitter Christianson syndrome ⚠
- p.Phe299Leu Single submitter Christianson syndrome ⚠
- p.Phe313Leu Single submitter
- p.Phe382Leu Single submitter
- p.Phe384Leu Single submitter
- p.Phe645Cys Single submitter Christianson syndrome ⚠
- p.Pro391Ser Single submitter ⚠
- p.Pro411Thr Single submitter
- p.Pro530Ala Single submitter Christianson syndrome ⚠
- p.Pro572Thr Single submitter ⚠
- p.Pro667Leu Single submitter Christianson syndrome ⚠
- p.Pro71Ala Single submitter ⚠
- p.Pro71Ser Single submitter Christianson syndrome ⚠
- p.Ser108Asn Single submitter
- p.Ser146Ile Single submitter Christianson syndrome
- p.Ser176Leu Single submitter Christianson syndrome ⚠
- p.Ser208Thr Single submitter Christianson syndrome ⚠
- p.Ser247Phe Single submitter Christianson syndrome
- p.Ser249Leu Single submitter
- p.Ser584Asn Single submitter
- p.Ser599Phe Single submitter
- p.Ser609Asn Single submitter Christianson syndrome ⚠
- p.Ser615Cys Single submitter ⚠
- p.Ser624Cys Single submitter Christianson syndrome ⚠
- p.Ser624Tyr Single submitter Christianson syndrome ⚠
- p.Ser635Cys Single submitter Christianson syndrome ⚠
- p.Ser95fs Single submitter Inborn genetic diseases
- p.Thr198Arg Single submitter Christianson syndrome
- p.Thr320Ile Single submitter ⚠
- p.Thr320Ser Single submitter Christianson syndrome
- p.Thr330= Single submitter Christianson syndrome
- p.Thr346Met Single submitter Christianson syndrome
- p.Thr358Ala Single submitter
- p.Thr380= Single submitter
- p.Thr450Ala Single submitter Christianson syndrome
- p.Thr568Ala Single submitter Inborn genetic diseases
- p.Thr570Ile Single submitter Christianson syndrome
- p.Thr611Ile Single submitter Christianson syndrome
- p.Thr78Asn Single submitter Christianson syndrome ⚠
- p.Tyr196His Single submitter ⚠
- p.Tyr345Ser Single submitter ⚠
- p.Tyr555Cys Single submitter Christianson syndrome ⚠
- p.Tyr66His Single submitter Christianson syndrome
- p.Val124Phe Single submitter Christianson syndrome ⚠
- p.Val187Ile Single submitter Christianson syndrome ⚠
- p.Val207Leu Single submitter ⚠
- p.Val296Met Single submitter Christianson syndrome
- p.Val395Ile Single submitter Christianson syndrome ⚠
- p.Val470Met Single submitter
- p.Val520Ile Single submitter ⚠
- p.Val6_Ser14del Single submitter
- p.Val60Met Single submitter ⚠
- p.Val617Met Single submitter ⚠
- p.Val651Ile Single submitter Christianson syndrome ⚠
- p.Val70Phe Single submitter Christianson syndrome ⚠
- c.1306+1G>C No assertion criteria Christianson syndrome
- p.Ile274Thr No assertion criteria Christianson syndrome
- p.Leu322Val No assertion criteria Christianson syndrome ⚠