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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


596 records found for search term Slc9a6
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598125855CV3883298single nucleotide variantSLC9A6, TRP89ARGNeurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment [RCV005233172]pathogenicHuman1name
11542145CV248748deletionSLC9A6, 5-BP DEL, IVS2ASChristianson syndrome [RCV000240849]pathogenicHumanname , alternate_id
598125854CV3883297insertionSLC9A6, 1-BP INS, NT1464Christianson syndrome [RCV005233171]pathogenicHuman1name , alternate_id
598125856CV3883299deletionSLC9A6, 3-BP DEL, NT1357Christianson syndrome [RCV005233173]|Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment [RCV005233174]pathogenicHuman2name , alternate_id
10398326CV203991duplicationNM_006359.2(SLC9A6):c.585dupGnot provided [RCV000189418]pathogenicX135998854135998855Humanname
14722669CV670816single nucleotide variantNM_006359.2(SLC9A6):c.-368G>Anot provided [RCV000832201]benignX135985135135985135Humanname
14714303CV671003single nucleotide variantNM_006359.2(SLC9A6):c.-349C>Tnot provided [RCV000828993]likely benignX135985154135985154Humanname
127254218CV1086279single nucleotide variantNM_001379110.1(SLC9A6):c.-1C>TChristianson syndrome [RCV001400757]likely benignX135985658135985658Human1name , alternate_id
150451965CV1205460single nucleotide variantNM_001379110.1(SLC9A6):c.*7T>Cnot provided [RCV001585360]likely benignX136044731136044731Humanname
151353650CV1327202single nucleotide variantNM_001379110.1(SLC9A6):c.*6C>Tnot specified [RCV001817146]uncertain significanceX136044730136044730Humanname
8692947CV142913single nucleotide variantNM_001379110.1(SLC9A6):c.*8A>TChristianson syndrome [RCV000861304]|History of neurodevelopmental disorder [RCV000715114]|Intellectual disability [RCV001251649]|not specified [RCV000128162]benign|likely benign|uncertain significanceX136044732136044732Human3name , alternate_id
10398324CV203981single nucleotide variantNM_001379110.1(SLC9A6):c.-9G>TChristianson syndrome [RCV000865182]|Inborn genetic diseases [RCV002390500]|SLC9A6-related disorder [RCV003917719]|not provided [RCV001721224]likely benign|uncertain significanceX135985650135985650Human2name , trait , alternate_id
10398317CV203989single nucleotide variantNM_006359.2(SLC9A6):c.584+1G>Anot provided [RCV000189408]pathogenicX135998559135998559Humanname
401929623CV2824067single nucleotide variantNM_001379110.1(SLC9A6):c.*1G>Cnot provided [RCV003439899]uncertain significanceX136044725136044725Humanname
401929625CV2824068single nucleotide variantNM_001379110.1(SLC9A6):c.*4T>Cnot provided [RCV003439900]uncertain significanceX136044728136044728Humanname
404987137CV2858919single nucleotide variantNM_001379110.1(SLC9A6):c.-5G>CChristianson syndrome [RCV003512415]uncertain significanceX135985654135985654Human1name , alternate_id
12833850CV379920single nucleotide variantNM_001379110.1(SLC9A6):c.-4A>GChristianson syndrome [RCV001507040]|not specified [RCV000419289]benign|likely benignX135985655135985655Human1name , alternate_id
127260981CV1108020single nucleotide variantNM_001379110.1(SLC9A6):c.-19C>AChristianson syndrome [RCV001427997]likely benignX135985640135985640Human1name , alternate_id
8692948CV142914single nucleotide variantNM_001379110.1(SLC9A6):c.-16C>TChristianson syndrome [RCV001078789]|not provided [RCV000724400]|not specified [RCV000213002]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX135985643135985643Human1name , alternate_id
155744176CV1842968single nucleotide variantNM_001379110.1(SLC9A6):c.-51G>AInborn genetic diseases [RCV002413149]uncertain significanceX135985608135985608Human1name
156414540CV1986721single nucleotide variantNM_001379110.1(SLC9A6):c.-25C>TChristianson syndrome [RCV002609249]likely benignX135985634135985634Human1name , alternate_id
156234350CV2076096single nucleotide variantNM_001379110.1(SLC9A6):c.-13A>CChristianson syndrome [RCV002830170]likely benignX135985646135985646Human1name , alternate_id
10404538CV208875single nucleotide variantNM_001379110.1(SLC9A6):c.*12C>TChristianson syndrome [RCV004584209]|not specified [RCV000192610]benign|conflicting interpretations of pathogenicity|uncertain significanceX136044736136044736Human1name , alternate_id
401828824CV2743160single nucleotide variantNM_001379110.1(SLC9A6):c.-27G>Anot provided [RCV003325869]uncertain significanceX135985632135985632Humanname
401828278CV2744638single nucleotide variantNM_001379110.1(SLC9A6):c.-53G>CChristianson syndrome [RCV003777374]|Inborn genetic diseases [RCV005281380]|not provided [RCV003328037]likely benign|uncertain significanceX135985606135985606Human2name , alternate_id
404995206CV2884337single nucleotide variantNM_001379110.1(SLC9A6):c.-23G>AChristianson syndrome [RCV003513269]uncertain significanceX135985636135985636Human1name , alternate_id
597842407CV3752983single nucleotide variantNM_001379110.1(SLC9A6):c.-45G>AChristianson syndrome [RCV005086712]uncertain significanceX135985614135985614Human1name , alternate_id
12845457CV378998single nucleotide variantNM_001379110.1(SLC9A6):c.-60T>CSLC9A6-related disorder [RCV003970124]|not specified [RCV000439846]likely benignX135985474135985474Human1name , trait , alternate_id
12833311CV379923single nucleotide variantNM_001379110.1(SLC9A6):c.*16C>Gnot specified [RCV000418260]likely benignX136044740136044740Humanname
12913785CV422415single nucleotide variantNM_001379110.1(SLC9A6):c.-35G>AChristianson syndrome [RCV005091047]|not provided [RCV000494259]uncertain significanceX135985624135985624Human1name , alternate_id
12913603CV422416single nucleotide variantNM_001379110.1(SLC9A6):c.-20G>AChristianson syndrome [RCV001507028]|not provided [RCV000494024]uncertain significanceX135985639135985639Human1name , alternate_id
13530014CV508496single nucleotide variantNM_001379110.1(SLC9A6):c.-73G>Anot specified [RCV000600530]likely benignX135985461135985461Humanname
13829323CV580646single nucleotide variantNM_001379110.1(SLC9A6):c.-43C>TInborn genetic diseases [RCV002313615]likely benignX135985616135985616Human1name
126918290CV1052278single nucleotide variantNM_001379110.1(SLC9A6):c.-56-4G>TChristianson syndrome [RCV001372571]uncertain significanceX135985599135985599Human1name , alternate_id
127248274CV1108024single nucleotide variantNM_001379110.1(SLC9A6):c.638-8C>TChristianson syndrome [RCV001424896]likely benignX136002100136002100Human1name , alternate_id
150331424CV1169936duplicationNM_001379110.1(SLC9A6):c.448-6dupChristianson syndrome [RCV001810086]|Inborn genetic diseases [RCV002334587]|not provided [RCV001536470]|not specified [RCV004594318]benign|likely benignX135998464135998465Human2name , alternate_id
150535308CV1302084single nucleotide variantNM_001379110.1(SLC9A6):c.886-8A>Gnot provided [RCV001758358]uncertain significanceX136012941136012941Humanname
150546775CV1313898single nucleotide variantNM_001379110.1(SLC9A6):c.886-1C>AChristianson syndrome [RCV001784991]pathogenicX136012948136012948Human1name , alternate_id
151890439CV1405183single nucleotide variantNM_001379110.1(SLC9A6):c.370-3C>TChristianson syndrome [RCV001888411]uncertain significanceX135998105135998105Human1name , alternate_id
151794640CV1420596single nucleotide variantNM_001379110.1(SLC9A6):c.638-1G>AChristianson syndrome [RCV002027540]likely pathogenicX136002107136002107Human1name , alternate_id
8692938CV142904single nucleotide variantNM_001379110.1(SLC9A6):c.744-6C>TChristianson syndrome [RCV000473826]|not specified [RCV000147546]benignX136010436136010436Human1name , alternate_id
9688400CV178080single nucleotide variantNM_001379110.1(SLC9A6):c.448-1G>AChristianson syndrome [RCV001507037]|not provided [RCV000153971]pathogenicX135998481135998481Human1name , alternate_id
156295588CV1888542single nucleotide variantNM_001379110.1(SLC9A6):c.638-2A>GChristianson syndrome [RCV003061645]likely pathogenicX136002106136002106Human1name , alternate_id
156330433CV1990979single nucleotide variantNM_001379110.1(SLC9A6):c.-56-7C>AChristianson syndrome [RCV002630898]likely benignX135985596135985596Human1name , alternate_id
10398319CV203990single nucleotide variantNM_001379110.1(SLC9A6):c.524+5G>Anot provided [RCV000595933]pathogenic|likely pathogenicX135998563135998563Humanname
156289294CV2050336single nucleotide variantNM_001379110.1(SLC9A6):c.991+1G>AChristianson syndrome [RCV002807277]likely pathogenicX136013055136013055Human1name , alternate_id
11658580CV266456single nucleotide variantNM_001379110.1(SLC9A6):c.885+7T>GChristianson syndrome [RCV002518845]|not provided [RCV000350312]uncertain significanceX136010590136010590Human1name , alternate_id
11655063CV268937deletionNM_001379110.1(SLC9A6):c.448-6delChristianson syndrome [RCV002059160]|not specified [RCV000322967]benignX135998465135998465Human1name , alternate_id
404982852CV2913827single nucleotide variantNM_001379110.1(SLC9A6):c.169+8C>TChristianson syndrome [RCV003511812]likely benignX135985835135985835Human1name , alternate_id
408381437CV3501477single nucleotide variantNM_001379110.1(SLC9A6):c.170-6T>Anot provided [RCV004727566]likely benignX135994780135994780Humanname
596923240CV3530305single nucleotide variantNM_001379110.1(SLC9A6):c.886-1C>Tnot provided [RCV004776904]likely pathogenicX136012948136012948Humanname
597866740CV3739048single nucleotide variantNM_001379110.1(SLC9A6):c.992-4A>GChristianson syndrome [RCV005068115]benignX136013345136013345Human1name , alternate_id
12841372CV377791single nucleotide variantNM_001379110.1(SLC9A6):c.638-5A>GChristianson syndrome [RCV001504630]|Inborn genetic diseases [RCV002311451]|not specified [RCV000432454]likely benign|uncertain significanceX136002103136002103Human2name , alternate_id
13212060CV426407single nucleotide variantNM_001379110.1(SLC9A6):c.743+1G>AChristianson syndrome [RCV000792492]|not provided [RCV000498280]pathogenic|likely pathogenicX136002214136002214Human1name , alternate_id
13212955CV430653single nucleotide variantNM_001379110.1(SLC9A6):c.370-8T>Cnot specified [RCV000499423]likely benignX135998100135998100Humanname
13828249CV580782deletionNM_001379110.1(SLC9A6):c.*5_*6delInborn genetic diseases [RCV002312268]|not provided [RCV001675953]|not specified [RCV001816748]benignX136044729136044730Human1name
14981528CV613551single nucleotide variantNM_001379110.1(SLC9A6):c.637+1G>AIntellectual disability [RCV000850210]pathogenicX135998969135998969Human2name
15098698CV690253single nucleotide variantNM_001379110.1(SLC9A6):c.744-7T>CChristianson syndrome [RCV001474550]|not provided [RCV004584815]likely benignX136010435136010435Human1name , alternate_id
15137787CV695891single nucleotide variantNM_001379110.1(SLC9A6):c.448-5G>Tnot provided [RCV000877055]likely benignX135998477135998477Humanname
21067962CV794082single nucleotide variantNM_001379110.1(SLC9A6):c.524+3A>GChristianson syndrome [RCV001202051]|not provided [RCV000993018]likely benign|uncertain significanceX135998561135998561Human1name , alternate_id
21075185CV798170duplicationNM_001379110.1(SLC9A6):c.743+2dupnot provided [RCV000996021]likely pathogenicX136002214136002215Humanname
38500020CV960973single nucleotide variantNM_001379110.1(SLC9A6):c.992-3T>CChristianson syndrome [RCV001245424]uncertain significanceX136013346136013346Human1name , alternate_id
126755620CV999620single nucleotide variantNM_001379110.1(SLC9A6):c.885+5C>TChristianson syndrome [RCV001298393]|not provided [RCV001751571]uncertain significanceX136010588136010588Human1name , alternate_id
8642290CV101274single nucleotide variantNM_001379110.1(SLC9A6):c.1306+8G>AChristianson syndrome [RCV001522385]|Inborn genetic diseases [RCV002381402]|not provided [RCV004703227]|not specified [RCV000081394]benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submittersX136022705136022705Human2name , alternate_id
8642291CV101275single nucleotide variantNM_001379110.1(SLC9A6):c.1460+4A>GChristianson syndrome [RCV000990952]|Inborn genetic diseases [RCV002311631]|SLC9A6-related disorder [RCV003935053]|not provided [RCV001705756]|not specified [RCV000081395]benign|likely benign|uncertain significanceX136024487136024487Human2name , trait , alternate_id
126725650CV1018913single nucleotide variantNM_001379110.1(SLC9A6):c.-57+50G>CChristianson syndrome [RCV001331523]uncertain significanceX135985527135985527Human1name , alternate_id
126769918CV1035362single nucleotide variantNM_001379110.1(SLC9A6):c.-57+62C>TChristianson syndrome [RCV001344185]likely benign|uncertain significanceX135985539135985539Human1name , alternate_id
127303538CV1150432single nucleotide variantNM_001379110.1(SLC9A6):c.-57+34G>CChristianson syndrome [RCV001499423]likely benignX135985511135985511Human1name , alternate_id
150413568CV1192449single nucleotide variantNM_001379110.1(SLC9A6):c.-57+27T>Anot provided [RCV001567241]pathogenic|uncertain significanceX135985504135985504Humanname
150485236CV1222664single nucleotide variantNM_001379110.1(SLC9A6):c.448-71G>Cnot provided [RCV001617667]benignX135998411135998411Humanname
150507008CV1242353single nucleotide variantNM_001379110.1(SLC9A6):c.-57+16G>Cnot provided [RCV001658708]benignX135985493135985493Humanname
150482593CV1244301duplicationNM_001379110.1(SLC9A6):c.744-48dupnot provided [RCV001653148]likely benignX136010387136010388Humanname
150543888CV1304250single nucleotide variantNM_001379110.1(SLC9A6):c.-57+21G>Anot provided [RCV001771220]uncertain significanceX135985498135985498Humanname
150544402CV1304737single nucleotide variantNM_001379110.1(SLC9A6):c.1551-5T>Cnot provided [RCV001772985]uncertain significanceX136030127136030127Humanname
151234709CV1320430single nucleotide variantNM_001379110.1(SLC9A6):c.-57+29G>Anot provided [RCV001800054]uncertain significanceX135985506135985506Humanname
151353590CV1326764single nucleotide variantNM_001379110.1(SLC9A6):c.-56-43C>Tnot provided [RCV001816557]pathogenicX135985560135985560Humanname
151777189CV1342687single nucleotide variantNM_001379110.1(SLC9A6):c.-56-43C>GChristianson syndrome [RCV001988798]uncertain significanceX135985560135985560Human1name , alternate_id
151758577CV1342952single nucleotide variantNM_001379110.1(SLC9A6):c.-56-36G>AChristianson syndrome [RCV002024102]uncertain significanceX135985567135985567Human1name , alternate_id
151820631CV1388660single nucleotide variantNM_001379110.1(SLC9A6):c.-56-31C>TChristianson syndrome [RCV001975690]|not provided [RCV003128838]uncertain significanceX135985572135985572Human1name , alternate_id
8692943CV142909single nucleotide variantNM_001379110.1(SLC9A6):c.1582-3C>TChristianson syndrome [RCV000540036]|not provided [RCV001729404]|not specified [RCV000194620]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX136033411136033411Human1name , alternate_id
8692945CV142911single nucleotide variantNM_001379110.1(SLC9A6):c.1662-4G>AChristianson syndrome [RCV000228298]|Inborn genetic diseases [RCV002312606]|not provided [RCV000857967]|not specified [RCV000147538]benign|likely benign|conflicting interpretations of pathogenicityX136040072136040072Human2name , alternate_id
151866958CV1479300single nucleotide variantNM_001379110.1(SLC9A6):c.-57+53C>TChristianson syndrome [RCV002035174]|not provided [RCV005057689]uncertain significanceX135985530135985530Human1name , alternate_id
152136820CV1537853single nucleotide variantNM_001379110.1(SLC9A6):c.-56-32G>AChristianson syndrome [RCV002177530]likely benignX135985571135985571Human1name , alternate_id
152029222CV1568188single nucleotide variantNM_001379110.1(SLC9A6):c.885+10T>CChristianson syndrome [RCV002105512]likely benignX136010593136010593Human1name , alternate_id
152167031CV1577342deletionNM_001379110.1(SLC9A6):c.637+12delChristianson syndrome [RCV002204603]likely benignX135998980135998980Human1name , alternate_id
152092711CV1603066single nucleotide variantNM_001379110.1(SLC9A6):c.447+20A>CChristianson syndrome [RCV002194502]likely benignX135998205135998205Human1name , alternate_id
152045820CV1614300single nucleotide variantNM_001379110.1(SLC9A6):c.743+11G>CChristianson syndrome [RCV002166259]likely benignX136002224136002224Human1name , alternate_id
152151205CV1631294single nucleotide variantNM_001379110.1(SLC9A6):c.1582-9T>CChristianson syndrome [RCV002179477]|not provided [RCV004763326]likely benign|uncertain significanceX136033405136033405Human1name , alternate_id
152092411CV1631800single nucleotide variantNM_001379110.1(SLC9A6):c.-56-35C>GChristianson syndrome [RCV002132206]benignX135985568135985568Human1name , alternate_id
152134552CV1638411single nucleotide variantNM_001379110.1(SLC9A6):c.1081-7G>AChristianson syndrome [RCV002083326]likely benignX136016638136016638Human1name , alternate_id
152064406CV1652301single nucleotide variantNM_001379110.1(SLC9A6):c.-57+52A>GChristianson syndrome [RCV002090688]likely benignX135985529135985529Human1name , alternate_id
152053395CV1659335single nucleotide variantNM_001379110.1(SLC9A6):c.886-17A>GChristianson syndrome [RCV002189683]likely benignX136012932136012932Human1name , alternate_id
152120542CV1662028duplicationNM_001379110.1(SLC9A6):c.638-10dupChristianson syndrome [RCV002117795]benignX136002093136002094Human1name , alternate_id
152173409CV1662592single nucleotide variantNM_001379110.1(SLC9A6):c.991+15C>GChristianson syndrome [RCV002144092]likely benignX136013069136013069Human1name , alternate_id
152980621CV1676028single nucleotide variantNM_001379110.1(SLC9A6):c.-57+38G>Anot provided [RCV002245097]uncertain significanceX135985515135985515Humanname
153347400CV1692040single nucleotide variantNM_001379110.1(SLC9A6):c.1768-9T>Gnot provided [RCV002273525]uncertain significanceX136044443136044443Humanname
9683840CV169937single nucleotide variantNM_001379110.1(SLC9A6):c.-57+50G>TChristianson syndrome [RCV000462225]|Inborn genetic diseases [RCV002312660]|not provided [RCV000224732]|not specified [RCV000147542]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX135985527135985527Human2name , alternate_id
156354684CV1880131single nucleotide variantNM_001379110.1(SLC9A6):c.-56-54G>TChristianson syndrome [RCV003065137]uncertain significanceX135985549135985549Human1name , alternate_id
10049489CV190502single nucleotide variantNM_001379110.1(SLC9A6):c.-56-28A>Cnot provided [RCV000173403]uncertain significanceX135985575135985575Humanname
156438593CV1947202single nucleotide variantNM_001379110.1(SLC9A6):c.744-12T>CChristianson syndrome [RCV003108537]likely benignX136010430136010430Human1name , alternate_id
156348947CV1968171single nucleotide variantNM_001379110.1(SLC9A6):c.1551-6C>TChristianson syndrome [RCV002601680]likely benignX136030126136030126Human1name , alternate_id
10398312CV203978single nucleotide variantNM_001379110.1(SLC9A6):c.-56-34A>Gnot specified [RCV000189403]likely benign|uncertain significanceX135985569135985569Humanname
10398313CV203979single nucleotide variantNM_001379110.1(SLC9A6):c.-56-25C>GChristianson syndrome [RCV001857654]|not specified [RCV000189404]likely pathogenic|likely benign|uncertain significanceX135985578135985578Human1name , alternate_id
10398327CV203980microsatelliteNM_001379110.1(SLC9A6):c.-25CGG[5]not specified [RCV000189419]uncertain significanceX135985633135985634Humanname
10398318CV203998single nucleotide variantNM_001379110.1(SLC9A6):c.1661+1G>Anot provided [RCV000189409]pathogenic|likely pathogenicX136033494136033494Humanname
155921117CV2073710single nucleotide variantNM_001379110.1(SLC9A6):c.637+16G>AChristianson syndrome [RCV002838322]likely benignX135998984135998984Human1name , alternate_id
156028380CV2116676single nucleotide variantNM_001379110.1(SLC9A6):c.170-11C>TChristianson syndrome [RCV002923401]likely benignX135994775135994775Human1name , alternate_id
156041929CV2143498single nucleotide variantNM_001379110.1(SLC9A6):c.1767+9G>AChristianson syndrome [RCV002999557]likely benignX136040190136040190Human1name , alternate_id
155986742CV2159762single nucleotide variantNM_001379110.1(SLC9A6):c.-56-17T>GChristianson syndrome [RCV003034133]likely benignX135985586135985586Human1name , alternate_id
243060719CV2408697single nucleotide variantNM_001379110.1(SLC9A6):c.1307-8C>TChristianson syndrome [RCV003136827]uncertain significanceX136024322136024322Human1name , alternate_id
243049697CV2417057single nucleotide variantNM_001379110.1(SLC9A6):c.1306+1G>CChristianson syndrome [RCV003151929]uncertain significanceX136022698136022698Human1name , alternate_id
401796853CV2739828single nucleotide variantNM_001379110.1(SLC9A6):c.-57+41T>AChristianson syndrome [RCV005102887]|not provided [RCV003319789]uncertain significanceX135985518135985518Human1name , alternate_id
401796873CV2739848single nucleotide variantNM_001379110.1(SLC9A6):c.-56-19C>Tnot provided [RCV003319809]uncertain significanceX135985584135985584Humanname
404996676CV2889028single nucleotide variantNM_001379110.1(SLC9A6):c.-56-55G>CChristianson syndrome [RCV003513405]uncertain significanceX135985548135985548Human1name , alternate_id
404998224CV2893965single nucleotide variantNM_001379110.1(SLC9A6):c.169+15C>TChristianson syndrome [RCV003513549]likely benignX135985842135985842Human1name , alternate_id
404980917CV2896414single nucleotide variantNM_001379110.1(SLC9A6):c.-56-56C>AChristianson syndrome [RCV003511490]likely benignX135985547135985547Human1name , alternate_id
404982611CV2913623single nucleotide variantNM_001379110.1(SLC9A6):c.1662-6C>TChristianson syndrome [RCV003511780]likely benignX136040070136040070Human1name , alternate_id
402472626CV2940100single nucleotide variantNM_001379110.1(SLC9A6):c.169+14C>TChristianson syndrome [RCV003624576]likely benignX135985841135985841Human1name , alternate_id
402472900CV2948323single nucleotide variantNM_001379110.1(SLC9A6):c.447+20A>GChristianson syndrome [RCV003624640]likely benignX135998205135998205Human1name , alternate_id
402477055CV2980083single nucleotide variantNM_001379110.1(SLC9A6):c.1551-9C>GChristianson syndrome [RCV003625489]likely benignX136030123136030123Human1name , alternate_id
402476348CV2985428single nucleotide variantNM_001379110.1(SLC9A6):c.-56-22C>TChristianson syndrome [RCV003625359]uncertain significanceX135985581135985581Human1name , alternate_id
402478349CV2993814single nucleotide variantNM_001379110.1(SLC9A6):c.638-18A>CChristianson syndrome [RCV003625714]likely benignX136002090136002090Human1name , alternate_id
402481371CV3023641single nucleotide variantNM_001379110.1(SLC9A6):c.1195-9T>CChristianson syndrome [RCV003626095]likely benignX136022577136022577Human1name , alternate_id
402470499CV3032640single nucleotide variantNM_001379110.1(SLC9A6):c.1080+7G>AChristianson syndrome [RCV003623993]likely benignX136013444136013444Human1name , alternate_id
402471386CV3049535single nucleotide variantNM_001379110.1(SLC9A6):c.-57+39G>CChristianson syndrome [RCV003624234]uncertain significanceX135985516135985516Human1name , alternate_id
402474395CV3076262single nucleotide variantNM_001379110.1(SLC9A6):c.1767+4A>GChristianson syndrome [RCV003624987]uncertain significanceX136040185136040185Human1name , alternate_id
402478999CV3174378single nucleotide variantNM_001379110.1(SLC9A6):c.169+18T>CChristianson syndrome [RCV003875725]likely benignX135985845135985845Human1name , alternate_id
407573651CV3498018single nucleotide variantNM_001379110.1(SLC9A6):c.-57+38G>Tnot provided [RCV004702004]uncertain significanceX135985515135985515Humanname
596926201CV3530730single nucleotide variantNM_001379110.1(SLC9A6):c.-57+48G>Anot provided [RCV004778315]uncertain significanceX135985525135985525Humanname
597922013CV3738451single nucleotide variantNM_001379110.1(SLC9A6):c.744-18G>AChristianson syndrome [RCV005074858]likely benignX136010424136010424Human1name , alternate_id
597942033CV3769322single nucleotide variantNM_001379110.1(SLC9A6):c.1307-9C>TChristianson syndrome [RCV005118817]likely benignX136024321136024321Human1name , alternate_id
597944560CV3776624single nucleotide variantNM_001379110.1(SLC9A6):c.1582-6C>AChristianson syndrome [RCV005119480]likely benignX136033408136033408Human1name , alternate_id
12849673CV378886single nucleotide variantNM_001379110.1(SLC9A6):c.-57+27T>GChristianson syndrome [RCV001507050]|Inborn genetic diseases [RCV002519559]|not provided [RCV000433846]pathogenic|likely pathogenic|uncertain significanceX135985504135985504Human2name , alternate_id
12838902CV379004single nucleotide variantNM_001379110.1(SLC9A6):c.1195-4T>Gnot specified [RCV000427823]likely benignX136022582136022582Humanname
597955321CV3809447single nucleotide variantNM_001379110.1(SLC9A6):c.1081-3C>TChristianson syndrome [RCV005162172]uncertain significanceX136016642136016642Human1name , alternate_id
597916643CV3811007single nucleotide variantNM_001379110.1(SLC9A6):c.-57+54C>TChristianson syndrome [RCV005155042]uncertain significanceX135985531135985531Human1name , alternate_id
597970561CV3832505single nucleotide variantNM_001379110.1(SLC9A6):c.885+14A>GChristianson syndrome [RCV005166584]likely benignX136010597136010597Human1name , alternate_id
597899610CV3835220single nucleotide variantNM_001379110.1(SLC9A6):c.-57+59C>TChristianson syndrome [RCV005180940]uncertain significanceX135985536135985536Human1name , alternate_id
598125069CV3883794single nucleotide variantNM_001379110.1(SLC9A6):c.-56-37C>Gnot provided [RCV005236149]uncertain significanceX135985566135985566Humanname
616934163CV4012141duplicationNM_001379110.1(SLC9A6):c.-57+21dupnot specified [RCV005409175]uncertain significanceX135985492135985493Humanname
617150728CV4019073single nucleotide variantNM_001379110.1(SLC9A6):c.-57+57T>Anot provided [RCV005423481]uncertain significanceX135985534135985534Humanname
12889991CV404453single nucleotide variantNM_001379110.1(SLC9A6):c.1081-8C>TChristianson syndrome [RCV000473803]|not provided [RCV003884564]likely benignX136016637136016637Human1name , alternate_id
12900006CV411130deletionNM_001379110.1(SLC9A6):c.-57+21delChristianson syndrome [RCV003989537]|not provided [RCV000481437]|not specified [RCV001844174]benign|likely benign|uncertain significanceX135985493135985493Human1name , alternate_id
12893570CV411131microsatelliteNM_006359.2(SLC9A6):c.509_510delGAnot provided [RCV000479415]pathogenicX135998480135998481Humanname
13214682CV430654single nucleotide variantNM_001379110.1(SLC9A6):c.1768-6A>GChristianson syndrome [RCV001461996]|not specified [RCV000501576]likely benign|uncertain significanceX136044446136044446Human1name , alternate_id
13486852CV446502single nucleotide variantNM_001379110.1(SLC9A6):c.-57+43G>CChristianson syndrome [RCV002528239]|not provided [RCV000523044]uncertain significanceX135985520135985520Human1name , alternate_id
13477282CV446503single nucleotide variantNM_001379110.1(SLC9A6):c.-56-40G>Cnot provided [RCV000520357]uncertain significanceX135985563135985563Humanname
13538874CV507845single nucleotide variantNM_001379110.1(SLC9A6):c.169+14C>GChristianson syndrome [RCV002063108]|not specified [RCV000612479]likely benignX135985841135985841Human1name , alternate_id
13527490CV508500single nucleotide variantNM_001379110.1(SLC9A6):c.-57+15C>Tnot specified [RCV000605198]likely benignX135985492135985492Humanname
13535471CV508502single nucleotide variantNM_001379110.1(SLC9A6):c.-57+37C>Gnot specified [RCV000602365]likely benignX135985514135985514Humanname
13538707CV508503single nucleotide variantNM_001379110.1(SLC9A6):c.170-16T>AChristianson syndrome [RCV003767476]|not specified [RCV000612225]benign|likely benignX135994770135994770Human1name , alternate_id
13529861CV508507single nucleotide variantNM_001379110.1(SLC9A6):c.1460+6T>CChristianson syndrome [RCV000981713]|not provided [RCV001719114]benign|likely benignX136024489136024489Human1name , alternate_id
13818932CV572224single nucleotide variantNM_001379110.1(SLC9A6):c.-57+33G>TChristianson syndrome [RCV000694032]uncertain significanceX135985510135985510Human1name , alternate_id
14397400CV613225single nucleotide variantNM_001379110.1(SLC9A6):c.-57+30C>TChristianson syndrome [RCV001855958]|not provided [RCV000762672]uncertain significanceX135985507135985507Human1name , alternate_id
14981586CV613522single nucleotide variantNM_001379110.1(SLC9A6):c.1307-1G>AChristianson syndrome [RCV000845288]pathogenicX136024329136024329Human1name , alternate_id
14722283CV649712single nucleotide variantNM_001379110.1(SLC9A6):c.-57+32C>TChristianson syndrome [RCV000813836]|SLC9A6-related disorder [RCV003413636]uncertain significanceX135985509135985509Human1name , trait , alternate_id
26919297CV849665single nucleotide variantNM_001379110.1(SLC9A6):c.-57+26A>GChristianson syndrome [RCV001058825]|Neurodevelopmental disorder [RCV001374987]|not provided [RCV005093349]uncertain significanceX135985503135985503Human2name , alternate_id
38488140CV939442single nucleotide variantNM_001379110.1(SLC9A6):c.-56-21C>AChristianson syndrome [RCV001209614]|SLC9A6-related disorder [RCV003398938]uncertain significanceX135985582135985582Human1name , trait , alternate_id
126734213CV1022140single nucleotide variantNM_001379110.1(SLC9A6):c.1080+17A>GChristianson syndrome [RCV001334542]conflicting interpretations of pathogenicity|uncertain significanceX136013454136013454Human1name , alternate_id
150407612CV1192450single nucleotide variantNM_001379110.1(SLC9A6):c.885+179G>Anot provided [RCV001565067]likely benignX136010762136010762Humanname
150414919CV1199423single nucleotide variantNM_001379110.1(SLC9A6):c.170-197A>Gnot provided [RCV001575172]likely benignX135994589135994589Humanname
150468376CV1207406single nucleotide variantNM_001379110.1(SLC9A6):c.1307-12G>CChristianson syndrome [RCV002592487]|not provided [RCV001588095]benign|likely benignX136024318136024318Human1name , alternate_id
150470270CV1209287duplicationNM_001379110.1(SLC9A6):c.637+206dupnot provided [RCV001588398]likely benignX135999161135999162Humanname
150436432CV1249695single nucleotide variantNM_001379110.1(SLC9A6):c.1551-63T>Cnot provided [RCV001665609]benignX136030069136030069Humanname
150479059CV1258193single nucleotide variantNM_001379110.1(SLC9A6):c.1195-63G>Anot provided [RCV001685609]benignX136022523136022523Humanname
150483704CV1263034duplicationNM_001379110.1(SLC9A6):c.744-208dupnot provided [RCV001686434]benignX136010224136010225Humanname
150495877CV1272741single nucleotide variantNM_001379110.1(SLC9A6):c.1551-11T>CChristianson syndrome [RCV002073243]|not provided [RCV001688664]likely benignX136030121136030121Human1name , alternate_id
150490171CV1279510single nucleotide variantNM_001379110.1(SLC9A6):c.886-297T>Cnot provided [RCV001716422]benignX136012652136012652Humanname
150491179CV1280204single nucleotide variantNM_001379110.1(SLC9A6):c.1080+31C>Anot provided [RCV001716599]benignX136013468136013468Humanname
8692941CV142907single nucleotide variantNM_001379110.1(SLC9A6):c.1460+10A>GChristianson syndrome [RCV000463980]|not specified [RCV000128156]benignX136024493136024493Human1name , alternate_id
8692942CV142908single nucleotide variantNM_001379110.1(SLC9A6):c.1581+11G>AChristianson syndrome [RCV002055811]|not specified [RCV000128157]benignX136030173136030173Human1name , alternate_id
152098847CV1542489single nucleotide variantNM_001379110.1(SLC9A6):c.1661+18A>GChristianson syndrome [RCV002195275]likely benignX136033511136033511Human1name , alternate_id
152103879CV1544604single nucleotide variantNM_001379110.1(SLC9A6):c.1080+10A>GChristianson syndrome [RCV002115697]benignX136013447136013447Human1name , alternate_id
152167674CV1547754single nucleotide variantNM_001379110.1(SLC9A6):c.1081-18T>CChristianson syndrome [RCV002160925]likely benignX136016627136016627Human1name , alternate_id
152145277CV1576691single nucleotide variantNM_001379110.1(SLC9A6):c.1307-17T>CChristianson syndrome [RCV002101366]likely benignX136024313136024313Human1name , alternate_id
152175263CV1602150single nucleotide variantNM_001379110.1(SLC9A6):c.1307-19C>TChristianson syndrome [RCV002163445]likely benignX136024311136024311Human1name , alternate_id
152109996CV1603311single nucleotide variantNM_001379110.1(SLC9A6):c.1581+15T>CChristianson syndrome [RCV002096719]likely benignX136030177136030177Human1name , alternate_id
152072587CV1609517deletionNM_001379110.1(SLC9A6):c.1661+28delChristianson syndrome [RCV002129799]benignX136033511136033511Human1name , alternate_id
152033418CV1610355duplicationNM_001379110.1(SLC9A6):c.1661+28dupChristianson syndrome [RCV002124929]benignX136033510136033511Human1name , alternate_id
152072072CV1643668single nucleotide variantNM_001379110.1(SLC9A6):c.1551-18T>GChristianson syndrome [RCV002111591]likely benignX136030114136030114Human1name , alternate_id
156129147CV1921551single nucleotide variantNM_001379110.1(SLC9A6):c.1307-20C>TChristianson syndrome [RCV002623244]likely benignX136024310136024310Human1name , alternate_id
156008331CV2046313single nucleotide variantNM_001379110.1(SLC9A6):c.1767+12T>GChristianson syndrome [RCV002756541]likely benignX136040193136040193Human1name , alternate_id
156308888CV2076137single nucleotide variantNM_001379110.1(SLC9A6):c.1306+16C>GChristianson syndrome [RCV002857546]likely benignX136022713136022713Human1name , alternate_id
156207264CV2103111single nucleotide variantNM_001379110.1(SLC9A6):c.1551-19C>TChristianson syndrome [RCV002918019]likely benignX136030113136030113Human1name , alternate_id
404991422CV2862764single nucleotide variantNM_001379110.1(SLC9A6):c.1195-13T>CChristianson syndrome [RCV003512858]likely benignX136022573136022573Human1name , alternate_id
402472490CV2943493single nucleotide variantNM_001379110.1(SLC9A6):c.1768-13T>AChristianson syndrome [RCV003624546]likely benignX136044439136044439Human1name , alternate_id
402473337CV2954372deletionNM_001379110.1(SLC9A6):c.1581+16delChristianson syndrome [RCV003624748]benignX136030174136030174Human1name , alternate_id
402470612CV3033107single nucleotide variantNM_001379110.1(SLC9A6):c.1460+20C>TChristianson syndrome [RCV003624022]likely benignX136024503136024503Human1name , alternate_id
402471260CV3055472single nucleotide variantNM_001379110.1(SLC9A6):c.1307-13T>CChristianson syndrome [RCV003624200]benignX136024317136024317Human1name , alternate_id
12841133CV378896single nucleotide variantNM_001379110.1(SLC9A6):c.1460+14A>Gnot specified [RCV000432029]likely benignX136024497136024497Humanname
12846733CV379922single nucleotide variantNM_001379110.1(SLC9A6):c.1581+10C>Tnot specified [RCV000442196]likely benignX136030172136030172Humanname
597854932CV3821707single nucleotide variantNM_001379110.1(SLC9A6):c.1194+15G>AChristianson syndrome [RCV005174185]likely benignX136016773136016773Human1name , alternate_id
597947544CV3841898single nucleotide variantNM_001379110.1(SLC9A6):c.1194+16T>CChristianson syndrome [RCV005189332]likely benignX136016774136016774Human1name , alternate_id
597863277CV3860681duplicationNM_001379110.1(SLC9A6):c.1768-17dupChristianson syndrome [RCV005196209]likely benignX136044434136044435Human1name , alternate_id
14733402CV671012single nucleotide variantNM_001379110.1(SLC9A6):c.170-125C>Tnot provided [RCV000837078]likely benignX135994661135994661Humanname
14709515CV671013deletionNM_001379110.1(SLC9A6):c.744-208delnot provided [RCV000837221]likely benignX136010225136010225Humanname
14727953CV671014single nucleotide variantNM_001379110.1(SLC9A6):c.1551-98T>Gnot provided [RCV000834562]likely benignX136030034136030034Humanname
14742364CV671018single nucleotide variantNM_001379110.1(SLC9A6):c.1581+17G>AChristianson syndrome [RCV002536130]|not provided [RCV000841339]likely benignX136030179136030179Human1name , alternate_id
21073815CV792125duplicationNM_001379110.1(SLC9A6):c.1080+80dupChristianson syndrome [RCV000990951]|not provided [RCV001559949]benign|likely benignX136013505136013506Human1name , alternate_id
40814240CV967023deletionNM_001379110.1(SLC9A6):c.1582-35delIntellectual disability [RCV001257721]uncertain significanceX136033379136033379Human2name
150414725CV1192451single nucleotide variantNM_001379110.1(SLC9A6):c.1307-298A>Gnot provided [RCV001567667]likely benignX136024032136024032Humanname
150448709CV1202074single nucleotide variantNM_001379110.1(SLC9A6):c.1768-219A>Gnot provided [RCV001584944]likely benignX136044233136044233Humanname
14732205CV670729single nucleotide variantNM_001379110.1(SLC9A6):c.1768-167T>Gnot provided [RCV000836475]benignX136044285136044285Humanname
155796450CV1860035deletionNM_001379110.1(SLC9A6):c.448-9_459delChristianson syndrome [RCV002466304]likely pathogenicX135998466135998486Human1name , alternate_id
10047967CV191806indelNM_001379110.1(SLC9A6):c.*5_*8delinsTTChristianson syndrome [RCV004584201]|not provided [RCV000993016]|not specified [RCV000175063]benign|conflicting interpretations of pathogenicity|uncertain significanceX136044729136044732Humanname , alternate_id
150423090CV1182058deletionNM_001379110.1(SLC9A6):c.743+3_743+6delChristianson syndrome [RCV002032599]|not provided [RCV001553534]pathogenic|likely pathogenicX136002214136002217Human1name , alternate_id
150506995CV1242350duplicationNM_001379110.1(SLC9A6):c.448-7_448-6dupChristianson syndrome [RCV002073031]|not provided [RCV001658705]benignX135998464135998465Human1name , alternate_id
10398325CV203985deletionNM_001379110.1(SLC9A6):c.370-9_370-5delChristianson syndrome [RCV000240849]|Inborn genetic diseases [RCV002327019]|Intellectual disability [RCV000224024]|not specified [RCV000189417]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significanceX135998095135998099Human4name , alternate_id
127253957CV1108022insertionNM_001379110.1(SLC9A6):c.448-8_448-7insGChristianson syndrome [RCV001426204]likely benignX135998474135998475Human1name , alternate_id
127323069CV1150434insertionNM_001379110.1(SLC9A6):c.448-9_448-8insCChristianson syndrome [RCV001485146]likely benignX135998473135998474Human1name , alternate_id
152038771CV1524233deletionNM_001379110.1(SLC9A6):c.524+8_524+12delChristianson syndrome [RCV002125767]likely benignX135998564135998568Human1name , alternate_id
402475199CV2968411single nucleotide variantNM_001379110.1(SLC9A6):c.15C>A (p.Ile5=)Christianson syndrome [RCV003625142]likely benignX135985673135985673Human1name , alternate_id
597960176CV3811474single nucleotide variantNM_001379110.1(SLC9A6):c.21C>T (p.Ser7=)Christianson syndrome [RCV005163321]likely benignX135985679135985679Human1name , alternate_id
127282595CV1086280single nucleotide variantNM_001379110.1(SLC9A6):c.66G>A (p.Leu22=)Christianson syndrome [RCV001411205]likely benignX135985724135985724Human1name , alternate_id
127312533CV1150433single nucleotide variantNM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)Christianson syndrome [RCV001481702]|not provided [RCV001762696]likely benign|uncertain significanceX135985739135985739Human1name , alternate_id
150543701CV1298429deletionNM_001379110.1(SLC9A6):c.525-13_525-10delnot provided [RCV001770628]uncertain significanceX135998842135998845Humanname
152138696CV1549571single nucleotide variantNM_001379110.1(SLC9A6):c.90C>T (p.Thr30=)Christianson syndrome [RCV002156477]likely benignX135985748135985748Human1name , alternate_id
152172470CV1660299single nucleotide variantNM_001379110.1(SLC9A6):c.75C>T (p.Phe25=)Christianson syndrome [RCV002162468]likely benignX135985733135985733Human1name , alternate_id
9683838CV169938deletionNM_001379110.1(SLC9A6):c.27del (p.Lys9fs)Christianson syndrome [RCV000147540]pathogenicX135985685135985685Human1name , alternate_id
155695478CV1844636single nucleotide variantNM_001379110.1(SLC9A6):c.69C>T (p.Leu23=)Inborn genetic diseases [RCV002443685]likely benignX135985727135985727Human1name
156405857CV2004493single nucleotide variantNM_001379110.1(SLC9A6):c.78C>T (p.Ile26=)Christianson syndrome [RCV002658414]likely benignX135985736135985736Human1name , alternate_id
402472596CV2943646single nucleotide variantNM_001379110.1(SLC9A6):c.54C>T (p.Asp18=)Christianson syndrome [RCV003624569]likely benignX135985712135985712Human1name , alternate_id
12845585CV378889single nucleotide variantNM_001379110.1(SLC9A6):c.42C>T (p.Ser14=)Christianson syndrome [RCV003512045]|not specified [RCV000440082]likely benignX135985700135985700Human1name , alternate_id
12846920CV378892single nucleotide variantNM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)Christianson syndrome [RCV001521806]|not provided [RCV001703570]benign|likely benignX135985715135985715Human1name , alternate_id
597966175CV3793928microsatelliteNM_001379110.1(SLC9A6):c.743+11_743+14delChristianson syndrome [RCV005140310]likely benignX136002219136002222Humanname , alternate_id
127234862CV1086281single nucleotide variantNM_001379110.1(SLC9A6):c.168T>C (p.Tyr56=)Christianson syndrome [RCV001391706]likely benignX135985826135985826Human1name , alternate_id
151875611CV1405821single nucleotide variantNM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln)Christianson syndrome [RCV001981862]uncertain significanceX135985680135985680Human1name , alternate_id
152105364CV1634098single nucleotide variantNM_001379110.1(SLC9A6):c.261A>G (p.Pro87=)Christianson syndrome [RCV002196075]likely benignX135994877135994877Human1name , alternate_id
402471877CV3069056single nucleotide variantNM_001379110.1(SLC9A6):c.159T>A (p.Ala53=)Christianson syndrome [RCV003624376]likely benignX135985817135985817Human1name , alternate_id
597960307CV3756176single nucleotide variantNM_001379110.1(SLC9A6):c.153C>T (p.Gly51=)Christianson syndrome [RCV005081493]likely benignX135985811135985811Human1name , alternate_id
12841987CV377787single nucleotide variantNM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)Christianson syndrome [RCV001088949]|not provided [RCV000433575]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX135985673135985673Human1name , alternate_id
12835981CV377790single nucleotide variantNM_001379110.1(SLC9A6):c.144C>T (p.His48=)Christianson syndrome [RCV005090711]|not provided [RCV001718876]likely benignX135985802135985802Human1name , alternate_id
12886909CV404086single nucleotide variantNM_001379110.1(SLC9A6):c.228T>C (p.Asn76=)Christianson syndrome [RCV001474069]|Inborn genetic diseases [RCV002356745]|not provided [RCV000468100]likely benignX135994844135994844Human2name , alternate_id
13832642CV590095deletionNM_001379110.1(SLC9A6):c.1662-19_1662-3delnot provided [RCV005251191]likely pathogenicX136040055136040071Humanname
15161525CV689343single nucleotide variantNM_001379110.1(SLC9A6):c.120G>A (p.Lys40=)Christianson syndrome [RCV002539034]likely benignX135985778135985778Human1name , alternate_id
15133606CV758301single nucleotide variantNM_001379110.1(SLC9A6):c.213G>A (p.Pro71=)Christianson syndrome [RCV000920546]likely benignX135994829135994829Human1name , alternate_id
38489718CV951617single nucleotide variantNM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)Christianson syndrome [RCV001238532]uncertain significanceX135985671135985671Human1name , alternate_id
126912744CV1052281single nucleotide variantNM_001379110.1(SLC9A6):c.525G>A (p.Gly175=)Christianson syndrome [RCV001369847]likely benign|uncertain significanceX135998856135998856Human1name , alternate_id
127279221CV1086282single nucleotide variantNM_001379110.1(SLC9A6):c.504A>G (p.Ala168=)Christianson syndrome [RCV001408950]likely benignX135998538135998538Human1name , alternate_id
127248863CV1086283single nucleotide variantNM_001379110.1(SLC9A6):c.594A>G (p.Thr198=)Christianson syndrome [RCV001417226]likely benignX135998925135998925Human1name , alternate_id
127274469CV1086284single nucleotide variantNM_001379110.1(SLC9A6):c.756A>G (p.Ala252=)Christianson syndrome [RCV001406304]likely benignX136010454136010454Human1name , alternate_id
127251816CV1108021single nucleotide variantNM_001379110.1(SLC9A6):c.372T>A (p.Val124=)Christianson syndrome [RCV001436629]likely benignX135998110135998110Human1name , alternate_id
127270460CV1108023single nucleotide variantNM_001379110.1(SLC9A6):c.471G>A (p.Gly157=)Christianson syndrome [RCV001430645]likely benignX135998505135998505Human1name , alternate_id
127240823CV1108025single nucleotide variantNM_001379110.1(SLC9A6):c.717T>C (p.Asn239=)Christianson syndrome [RCV001423432]likely benignX136002187136002187Human1name , alternate_id
127313552CV1129401single nucleotide variantNM_001379110.1(SLC9A6):c.630T>C (p.Thr210=)Christianson syndrome [RCV001464704]likely benignX135998961135998961Human1name , alternate_id
127292925CV1159369single nucleotide variantNM_001379110.1(SLC9A6):c.564G>A (p.Thr188=)Christianson syndrome [RCV001511059]|not provided [RCV001581164]benign|likely benign|uncertain significanceX135998895135998895Human1name , alternate_id
150496699CV1283394duplicationNM_001379110.1(SLC9A6):c.744-209_744-208dupnot provided [RCV001717720]benignX136010224136010225Humanname
150553085CV1298106single nucleotide variantNM_001379110.1(SLC9A6):c.76A>G (p.Ile26Val)not provided [RCV001768719]uncertain significanceX135985734135985734Humanname
8692937CV142903single nucleotide variantNM_001379110.1(SLC9A6):c.474T>C (p.Ser158=)Christianson syndrome [RCV000231992]|Inborn genetic diseases [RCV002312941]|SLC9A6-related disorder [RCV003965070]|not provided [RCV004713355]|not specified [RCV000128150]likely pathogenic|benign|likely benignX135998508135998508Human2name , trait , alternate_id
8692939CV142905single nucleotide variantNM_001379110.1(SLC9A6):c.801G>A (p.Ala267=)Christianson syndrome [RCV002055810]|not specified [RCV000128152]benign|likely benignX136010499136010499Human1name , alternate_id
152111726CV1537216single nucleotide variantNM_001379110.1(SLC9A6):c.471G>T (p.Gly157=)Christianson syndrome [RCV002215587]likely benignX135998505135998505Human1name , alternate_id
152124097CV1634198single nucleotide variantNM_001379110.1(SLC9A6):c.933C>A (p.Gly311=)Christianson syndrome [RCV002217167]likely benignX136012996136012996Human1name , alternate_id
155267301CV1699533single nucleotide variantNM_001379110.1(SLC9A6):c.55A>G (p.Ser19Gly)not provided [RCV002283328]likely pathogenicX135985713135985713Humanname
155711982CV1824212single nucleotide variantNM_001379110.1(SLC9A6):c.786C>T (p.Thr262=)Inborn genetic diseases [RCV002447583]likely benignX136010484136010484Human1name
156310475CV1895336single nucleotide variantNM_001379110.1(SLC9A6):c.660C>T (p.His220=)Christianson syndrome [RCV003088415]likely benignX136002130136002130Human1name , alternate_id
155912131CV1935297single nucleotide variantNM_001379110.1(SLC9A6):c.67C>G (p.Leu23Val)Christianson syndrome [RCV002510626]uncertain significanceX135985725135985725Human1name , alternate_id
155913201CV2025873single nucleotide variantNM_001379110.1(SLC9A6):c.609T>C (p.Phe203=)Christianson syndrome [RCV002750286]likely benignX135998940135998940Human1name , alternate_id
10398331CV203982single nucleotide variantNM_001379110.1(SLC9A6):c.64C>G (p.Leu22Val)Christianson syndrome [RCV005192487]likely pathogenic|uncertain significanceX135985722135985722Human1name , alternate_id
10398328CV203983duplicationNM_001379110.1(SLC9A6):c.190dup (p.Leu64fs)not provided [RCV000189420]pathogenicX135994805135994806Humanname
10398320CV203994single nucleotide variantNM_006359.2(SLC9A6):c.1076G>A (p.Gly359Asp)not provided [RCV000189411]likely pathogenicX136013373136013373Humanname
10398322CV203999single nucleotide variantNM_006359.2(SLC9A6):c.1649T>C (p.Leu550Pro)not provided [RCV000189414]likely pathogenicX136040093136040093Humanname
156012244CV2076136deletionNM_001379110.1(SLC9A6):c.1306+15_1306+18delChristianson syndrome [RCV002866167]likely benignX136022709136022712Human1name , alternate_id
155997191CV2168777single nucleotide variantNM_001379110.1(SLC9A6):c.492T>C (p.Phe164=)Christianson syndrome [RCV003017107]likely benignX135998526135998526Human1name , alternate_id
156022599CV2184671single nucleotide variantNM_001379110.1(SLC9A6):c.657C>T (p.Phe219=)Christianson syndrome [RCV003035804]likely benignX136002127136002127Human1name , alternate_id
404988808CV2928659single nucleotide variantNM_001379110.1(SLC9A6):c.663G>A (p.Glu221=)Christianson syndrome [RCV003512590]likely benignX136002133136002133Human1name , alternate_id
402473147CV2949595single nucleotide variantNM_001379110.1(SLC9A6):c.450A>G (p.Arg150=)Christianson syndrome [RCV003624694]likely benignX135998484135998484Human1name , alternate_id
402475478CV2965719single nucleotide variantNM_001379110.1(SLC9A6):c.819G>A (p.Gly273=)Christianson syndrome [RCV003625194]likely benignX136010517136010517Human1name , alternate_id
402476570CV2989055single nucleotide variantNM_001379110.1(SLC9A6):c.601C>T (p.Leu201=)Christianson syndrome [RCV003625401]likely benignX135998932135998932Human1name , alternate_id
402479963CV3017532single nucleotide variantNM_001379110.1(SLC9A6):c.936G>C (p.Leu312=)Christianson syndrome [RCV003625947]likely benignX136012999136012999Human1name , alternate_id
402470536CV3041364single nucleotide variantNM_001379110.1(SLC9A6):c.828T>C (p.Leu276=)Christianson syndrome [RCV003624002]likely benignX136010526136010526Human1name , alternate_id
402471650CV3060441single nucleotide variantNM_001379110.1(SLC9A6):c.459T>C (p.Phe153=)Christianson syndrome [RCV003624298]likely benignX135998493135998493Human1name , alternate_id
405263850CV3189809single nucleotide variantNM_001379110.1(SLC9A6):c.403T>C (p.Leu135=)SLC9A6-related disorder [RCV003896857]likely benignX135998141135998141Humanname , trait , alternate_id
405697534CV3226867single nucleotide variantNM_001379110.1(SLC9A6):c.837C>T (p.Phe279=)not provided [RCV003993261]likely benignX136010535136010535Humanname
405723633CV3381256deletionNM_001379110.1(SLC9A6):c.284del (p.Ser95fs)Inborn genetic diseases [RCV004524177]uncertain significanceX135994900135994900Human1name
407457782CV3416219single nucleotide variantNM_001379110.1(SLC9A6):c.321T>C (p.Ile107=)not provided [RCV004599097]likely benignX135994937135994937Humanname
408374947CV3508817single nucleotide variantNM_001379110.1(SLC9A6):c.58G>A (p.Ala20Thr)SLC9A6-related disorder [RCV004747647]uncertain significanceX135985716135985716Humanname , trait , alternate_id
597934845CV3793657single nucleotide variantNM_001379110.1(SLC9A6):c.736C>T (p.Leu246=)Christianson syndrome [RCV005132313]likely benignX136002206136002206Human1name , alternate_id
597972114CV3794144single nucleotide variantNM_001379110.1(SLC9A6):c.29A>G (p.Gln10Arg)Christianson syndrome [RCV005142510]uncertain significanceX135985687135985687Human1name , alternate_id
12837687CV379921single nucleotide variantNM_001379110.1(SLC9A6):c.900C>T (p.Thr300=)not specified [RCV000425588]likely benignX136012963136012963Humanname
597915782CV3845653single nucleotide variantNM_001379110.1(SLC9A6):c.79C>G (p.Leu27Val)Christianson syndrome [RCV005183448]uncertain significanceX135985737135985737Human1name , alternate_id
12886603CV404448single nucleotide variantNM_001379110.1(SLC9A6):c.603A>G (p.Leu201=)Christianson syndrome [RCV001453308]likely benignX135998934135998934Human1name , alternate_id
12887135CV404491single nucleotide variantNM_001379110.1(SLC9A6):c.960C>G (p.Thr320=)Christianson syndrome [RCV001493415]likely benignX136013023136013023Human1name , alternate_id
13467255CV472065single nucleotide variantNM_001379110.1(SLC9A6):c.516C>T (p.Phe172=)Christianson syndrome [RCV000554011]|not specified [RCV000609426]likely benign|uncertain significanceX135998550135998550Human1name , alternate_id
13535509CV507738single nucleotide variantNM_001379110.1(SLC9A6):c.852A>T (p.Ala284=)Christianson syndrome [RCV001482709]|Inborn genetic diseases [RCV002377283]|not provided [RCV000867618]likely benignX136010550136010550Human2name , alternate_id
14720555CV649715single nucleotide variantNM_001379110.1(SLC9A6):c.483A>G (p.Ala161=)Christianson syndrome [RCV000813072]|SLC9A6-related disorder [RCV003892738]likely benign|uncertain significanceX135998517135998517Human1name , trait , alternate_id
15101746CV689344single nucleotide variantNM_001379110.1(SLC9A6):c.486C>T (p.Tyr162=)Christianson syndrome [RCV003624433]benignX135998520135998520Human1name , alternate_id
15178138CV773769single nucleotide variantNM_001379110.1(SLC9A6):c.549G>A (p.Thr183=)Christianson syndrome [RCV000929323]|Inborn genetic diseases [RCV002354783]likely benignX135998880135998880Human2name , alternate_id
8642292CV101276single nucleotide variantNM_001379110.1(SLC9A6):c.1857T>C (p.Thr619=)Christianson syndrome [RCV003105788]|not specified [RCV000081396]likely benign|uncertain significanceX136044541136044541Human1name , alternate_id
126920441CV1052279single nucleotide variantNM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu)Christianson syndrome [RCV001362877]uncertain significanceX135994828135994828Human1name , alternate_id
126915239CV1052280single nucleotide variantNM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn)Christianson syndrome [RCV001370795]|not provided [RCV004783964]uncertain significanceX135994855135994855Human1name , alternate_id
127251970CV1108026single nucleotide variantNM_001379110.1(SLC9A6):c.1734C>T (p.Ile578=)Christianson syndrome [RCV001436660]|not provided [RCV001655724]likely benign|uncertain significanceX136040148136040148Human1name , alternate_id
127245309CV1108027single nucleotide variantNM_001379110.1(SLC9A6):c.1764C>T (p.Tyr588=)Christianson syndrome [RCV001435193]likely benignX136040178136040178Human1name , alternate_id
127281684CV1108028single nucleotide variantNM_001379110.1(SLC9A6):c.1839A>T (p.Gly613=)Christianson syndrome [RCV001447300]likely benignX136044523136044523Human1name , alternate_id
127290884CV1129402single nucleotide variantNM_001379110.1(SLC9A6):c.1227T>C (p.Ile409=)Christianson syndrome [RCV001475893]likely benignX136022618136022618Human1name , alternate_id
127327385CV1129403single nucleotide variantNM_001379110.1(SLC9A6):c.1578C>T (p.His526=)Christianson syndrome [RCV001469062]|Inborn genetic diseases [RCV002405101]likely benignX136030159136030159Human2name , alternate_id
127333913CV1150435single nucleotide variantNM_001379110.1(SLC9A6):c.1728A>G (p.Gly576=)Christianson syndrome [RCV001490467]likely benignX136040142136040142Human1name , alternate_id
127292494CV1159371single nucleotide variantNM_001379110.1(SLC9A6):c.2022G>A (p.Thr674=)Christianson syndrome [RCV001510862]benignX136044706136044706Human1name , alternate_id
150417780CV1182056single nucleotide variantNM_001379110.1(SLC9A6):c.131C>T (p.Ala44Val)not provided [RCV001550295]uncertain significanceX135985789135985789Humanname
151750952CV1360963single nucleotide variantNM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn)Christianson syndrome [RCV001894327]uncertain significanceX135994849135994849Human1name , alternate_id
151798776CV1373715single nucleotide variantNM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val)Christianson syndrome [RCV001917519]likely pathogenic|uncertain significanceX135994786135994786Human1name , alternate_id
151751370CV1385367single nucleotide variantNM_001379110.1(SLC9A6):c.1026A>G (p.Gln342=)Christianson syndrome [RCV001969221]likely benign|uncertain significanceX136013383136013383Human1name , alternate_id
151765912CV1387621duplicationNM_001379110.1(SLC9A6):c.806dup (p.Lys270fs)Christianson syndrome [RCV001987775]pathogenicX136010502136010503Human1name , alternate_id
8692940CV142906single nucleotide variantNM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)Christianson syndrome [RCV000475960]|Inborn genetic diseases [RCV002312604]|not provided [RCV004713356]|not specified [RCV000147536]benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submittersX136013386136013386Human2name , alternate_id
8692946CV142912single nucleotide variantNM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)Christianson syndrome [RCV000460704]|Inborn genetic diseases [RCV002312607]|not provided [RCV004703415]|not specified [RCV000147539]benign|likely benign|conflicting interpretations of pathogenicityX136040103136040103Human2name , alternate_id
151860336CV1452249single nucleotide variantNM_001379110.1(SLC9A6):c.1638G>T (p.Arg546=)Christianson syndrome [RCV002017677]uncertain significanceX136033470136033470Human1name , alternate_id
152063451CV1535611single nucleotide variantNM_001379110.1(SLC9A6):c.1992T>G (p.Ser664=)Christianson syndrome [RCV002168293]likely benignX136044676136044676Human1name , alternate_id
152026353CV1550245single nucleotide variantNM_001379110.1(SLC9A6):c.1887A>G (p.Arg629=)Christianson syndrome [RCV002185126]benignX136044571136044571Human1name , alternate_id
152031693CV1571853single nucleotide variantNM_001379110.1(SLC9A6):c.1170C>T (p.Asn390=)Christianson syndrome [RCV002186753]likely benignX136016734136016734Human1name , alternate_id
152091299CV1602838single nucleotide variantNM_001379110.1(SLC9A6):c.220G>A (p.Val74Ile)Christianson syndrome [RCV002194334]benignX135994836135994836Human1name , alternate_id
152131993CV1633279single nucleotide variantNM_001379110.1(SLC9A6):c.1869A>T (p.Thr623=)Christianson syndrome [RCV002137043]|not provided [RCV005256848]likely benignX136044553136044553Human1name , alternate_id
152064212CV1652247single nucleotide variantNM_001379110.1(SLC9A6):c.290A>G (p.Lys97Arg)Christianson syndrome [RCV002090658]likely benignX135994906135994906Human1name , alternate_id
152172809CV1652721single nucleotide variantNM_001379110.1(SLC9A6):c.2019T>C (p.Asn673=)Christianson syndrome [RCV002143900]likely benignX136044703136044703Human1name , alternate_id
152172980CV1652828single nucleotide variantNM_001379110.1(SLC9A6):c.1638G>A (p.Arg546=)Christianson syndrome [RCV002143959]likely benignX136033470136033470Human1name , alternate_id
9683841CV169939single nucleotide variantNM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser)Christianson syndrome [RCV000147543]uncertain significanceX135994827135994827Human1name , alternate_id
9683842CV169940single nucleotide variantNM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly)Christianson syndrome [RCV000147544]|not provided [RCV004567164]|not specified [RCV004767090]uncertain significanceX135994872135994872Human1name , alternate_id
155734231CV1842820single nucleotide variantNM_001379110.1(SLC9A6):c.1938G>A (p.Gly646=)Inborn genetic diseases [RCV002408391]likely benignX136044622136044622Human1name
155687453CV1853635single nucleotide variantNM_001379110.1(SLC9A6):c.138C>G (p.Phe46Leu)Christianson syndrome [RCV003102909]|Inborn genetic diseases [RCV002441830]uncertain significanceX135985796135985796Human2name , alternate_id
156409039CV1880056single nucleotide variantNM_001379110.1(SLC9A6):c.1059G>A (p.Glu353=)Christianson syndrome [RCV003071507]|SLC9A6-related disorder [RCV003898736]benign|likely benignX136013416136013416Human1name , trait , alternate_id
156404840CV1883558single nucleotide variantNM_001379110.1(SLC9A6):c.1875C>T (p.Ser625=)Christianson syndrome [RCV003069840]likely benignX136044559136044559Human1name , alternate_id
10398311CV203996single nucleotide variantNM_001379110.1(SLC9A6):c.1287A>G (p.Gln429=)Christianson syndrome [RCV001456305]|not provided [RCV001721223]|not specified [RCV000189402]benign|likely benign|conflicting interpretations of pathogenicityX136022678136022678Human1name , alternate_id
156284675CV2043056single nucleotide variantNM_001379110.1(SLC9A6):c.1770C>T (p.Asn590=)Christianson syndrome [RCV002770513]likely benignX136044454136044454Human1name , alternate_id
156324085CV2053965single nucleotide variantNM_001379110.1(SLC9A6):c.1953C>T (p.Val651=)Christianson syndrome [RCV002810276]likely benignX136044637136044637Human1name , alternate_id
156328088CV2068803single nucleotide variantNM_001379110.1(SLC9A6):c.1128C>T (p.Tyr376=)Christianson syndrome [RCV002835132]likely benignX136016692136016692Human1name , alternate_id
155905104CV2084125single nucleotide variantNM_001379110.1(SLC9A6):c.2039A>G (p.Ter680=)Christianson syndrome [RCV002858104]likely benign|uncertain significanceX136044723136044723Human1name , alternate_id
10406677CV208874single nucleotide variantNM_001379110.1(SLC9A6):c.165T>G (p.Ile55Met)not specified [RCV000193658]uncertain significanceX135985823135985823Humanname
155976157CV2100091single nucleotide variantNM_001379110.1(SLC9A6):c.1338C>T (p.Ala446=)Christianson syndrome [RCV002881714]likely benignX136024361136024361Human1name , alternate_id
155957053CV2162851single nucleotide variantNM_001379110.1(SLC9A6):c.1746C>G (p.Leu582=)Christianson syndrome [RCV003015159]likely benignX136040160136040160Human1name , alternate_id
8562507CV26517indelNM_001379110.1(SLC9A6):c.447+3_447+4delinsCCChristianson syndrome [RCV000012233]pathogenicX135998188135998189Humanname , alternate_id
11638000CV266455single nucleotide variantNM_001379110.1(SLC9A6):c.2001G>A (p.Pro667=)Christianson syndrome [RCV001516730]|not provided [RCV000295638]benign|likely benign|uncertain significanceX136044685136044685Human1name , alternate_id
11641640CV267773single nucleotide variantNM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=)Christianson syndrome [RCV003765606]|not provided [RCV000725290]|not specified [RCV000360428]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX136024403136024403Human1name , alternate_id
401924553CV2804943single nucleotide variantNM_001379110.1(SLC9A6):c.163A>G (p.Ile55Val)Christianson syndrome [RCV003624522]|not specified [RCV003404761]uncertain significanceX135985821135985821Human1name , alternate_id
401929619CV2824065single nucleotide variantNM_001379110.1(SLC9A6):c.178G>A (p.Val60Met)not provided [RCV003439897]uncertain significanceX135994794135994794Humanname
401929621CV2824066single nucleotide variantNM_001379110.1(SLC9A6):c.1389T>C (p.Leu463=)Christianson syndrome [RCV005100080]|not provided [RCV003439898]likely benignX136024412136024412Human1name , alternate_id
404992013CV2860420single nucleotide variantNM_001379110.1(SLC9A6):c.208G>T (p.Val70Phe)Christianson syndrome [RCV003512920]uncertain significanceX135994824135994824Human1name , alternate_id
404992373CV2870513single nucleotide variantNM_001379110.1(SLC9A6):c.1278A>G (p.Ser426=)Christianson syndrome [RCV003512958]likely benignX136022669136022669Human1name , alternate_id
402473208CV2957188single nucleotide variantNM_001379110.1(SLC9A6):c.1572A>G (p.Gln524=)Christianson syndrome [RCV003624708]likely benignX136030153136030153Human1name , alternate_id
402475667CV2966353deletionNM_001379110.1(SLC9A6):c.445del (p.Arg149fs)Christianson syndrome [RCV003625228]pathogenicX135998180135998180Human1name , alternate_id
402470210CV3027044single nucleotide variantNM_001379110.1(SLC9A6):c.283A>G (p.Ser95Gly)Christianson syndrome [RCV003623914]likely benignX135994899135994899Human1name , alternate_id
402480187CV3028523single nucleotide variantNM_001379110.1(SLC9A6):c.133C>T (p.Arg45Cys)Christianson syndrome [RCV003625976]uncertain significanceX135985791135985791Human1name , alternate_id
402474362CV3079271single nucleotide variantNM_001379110.1(SLC9A6):c.1359T>C (p.Tyr453=)Christianson syndrome [RCV003624981]likely benignX136024382136024382Human1name , alternate_id
405147981CV3152149single nucleotide variantNM_001379110.1(SLC9A6):c.2037C>T (p.Ala679=)Christianson syndrome [RCV003856120]likely benignX136044721136044721Human1name , alternate_id
407425681CV3409547single nucleotide variantNM_001379110.1(SLC9A6):c.1503T>C (p.His501=)not provided [RCV004585479]likely benignX136028928136028928Humanname
407424909CV3410987single nucleotide variantNM_001379110.1(SLC9A6):c.211C>G (p.Pro71Ala)not provided [RCV004588677]uncertain significanceX135994827135994827Humanname
407573642CV3498009single nucleotide variantNM_001379110.1(SLC9A6):c.146A>G (p.Glu49Gly)not provided [RCV004701995]uncertain significanceX135985804135985804Humanname
408382248CV3504358single nucleotide variantNM_001379110.1(SLC9A6):c.134G>C (p.Arg45Pro)SLC9A6-related disorder [RCV004729714]uncertain significanceX135985792135985792Humanname , trait , alternate_id
12791890CV362395deletionNM_001379110.1(SLC9A6):c.726del (p.Ala243fs)Christianson syndrome [RCV000417039]pathogenicX136002195136002195Human1name , alternate_id
597951801CV3765485single nucleotide variantNM_001379110.1(SLC9A6):c.119A>T (p.Lys40Met)Christianson syndrome [RCV005121129]uncertain significanceX135985777135985777Human1name , alternate_id
12840911CV377800single nucleotide variantNM_001379110.1(SLC9A6):c.1434T>C (p.Thr478=)Christianson syndrome [RCV001495795]|not specified [RCV000431608]likely benignX136024457136024457Human1name , alternate_id
597901544CV3779116single nucleotide variantNM_001379110.1(SLC9A6):c.1008G>A (p.Leu336=)Christianson syndrome [RCV005127193]likely benignX136013365136013365Human1name , alternate_id
12833323CV378895single nucleotide variantNM_001379110.1(SLC9A6):c.1143G>A (p.Leu381=)Christianson syndrome [RCV001396840]|not specified [RCV000418279]likely benignX136016707136016707Human1name , alternate_id
597965093CV3830688single nucleotide variantNM_001379110.1(SLC9A6):c.1899C>T (p.Asn633=)Christianson syndrome [RCV005164828]likely benignX136044583136044583Human1name , alternate_id
597834915CV3831964single nucleotide variantNM_001379110.1(SLC9A6):c.2004A>G (p.Leu668=)Christianson syndrome [RCV005170967]likely benignX136044688136044688Human1name , alternate_id
597883189CV3857683single nucleotide variantNM_001379110.1(SLC9A6):c.1680G>A (p.Leu560=)Christianson syndrome [RCV005199310]likely benignX136040094136040094Human1name , alternate_id
597917645CV3861401single nucleotide variantNM_001379110.1(SLC9A6):c.1590T>A (p.Pro530=)Christianson syndrome [RCV005204558]likely benignX136033422136033422Human1name , alternate_id
598126753CV3882209single nucleotide variantNM_001379110.1(SLC9A6):c.154C>A (p.Leu52Met)not provided [RCV005233760]uncertain significanceX135985812135985812Humanname
598126984CV3887984single nucleotide variantNM_001379110.1(SLC9A6):c.1812T>C (p.Asn604=)not provided [RCV005242670]likely benignX136044496136044496Humanname
616934972CV4009200duplicationNM_001379110.1(SLC9A6):c.459dup (p.Arg154fs)not provided [RCV005402372]pathogenicX135998486135998487Humanname
12890631CV404120single nucleotide variantNM_001379110.1(SLC9A6):c.206A>G (p.His69Arg)Christianson syndrome [RCV000474987]likely benign|uncertain significanceX135994822135994822Human1name , alternate_id
12890936CV404493single nucleotide variantNM_001379110.1(SLC9A6):c.1698G>A (p.Pro566=)Christianson syndrome [RCV001472348]likely benignX136040112136040112Human1name , alternate_id
13477251CV446504single nucleotide variantNM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala)Christianson syndrome [RCV001300841]|not provided [RCV000520347]uncertain significanceX135994878135994878Human1name , alternate_id
13497605CV471288single nucleotide variantNM_001379110.1(SLC9A6):c.1428C>T (p.Gly476=)Christianson syndrome [RCV000525320]likely benign|uncertain significanceX136024451136024451Human1name , alternate_id
13501387CV471733single nucleotide variantNM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)Christianson syndrome [RCV001083801]|History of neurodevelopmental disorder [RCV000720971]|SLC9A6-related disorder [RCV003942821]|not provided [RCV000594833]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX136016647136016647Human1name , trait , alternate_id
13467677CV471736single nucleotide variantNM_001379110.1(SLC9A6):c.1164C>T (p.Val388=)Christianson syndrome [RCV000555538]|not provided [RCV004808774]likely benignX136016728136016728Human1name , alternate_id
13499515CV472064single nucleotide variantNM_001379110.1(SLC9A6):c.113T>C (p.Leu38Pro)Christianson syndrome [RCV000533095]uncertain significanceX135985771135985771Human1name , alternate_id
13520919CV495788single nucleotide variantNM_001379110.1(SLC9A6):c.1140A>G (p.Thr380=)not provided [RCV000599028]uncertain significanceX136016704136016704Humanname
13533793CV507746single nucleotide variantNM_001379110.1(SLC9A6):c.1006T>C (p.Leu336=)Christianson syndrome [RCV003512064]|not specified [RCV000607196]likely benignX136013363136013363Human1name , alternate_id
13541376CV507852single nucleotide variantNM_001379110.1(SLC9A6):c.1038G>A (p.Thr346=)Christianson syndrome [RCV001503135]|not specified [RCV000616075]likely benignX136013395136013395Human1name , alternate_id
13540664CV508326single nucleotide variantNM_001379110.1(SLC9A6):c.1671G>A (p.Lys557=)not specified [RCV000615024]likely benignX136040085136040085Humanname
13705429CV537036single nucleotide variantNM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro)Christianson syndrome [RCV002534264]|not provided [RCV000657963]uncertain significanceX135985788135985788Human1name , alternate_id
13801489CV577932single nucleotide variantNM_001379110.1(SLC9A6):c.1863G>A (p.Pro621=)Christianson syndrome [RCV002534518]|not provided [RCV000713359]likely benignX136044547136044547Human1name , alternate_id
13830079CV580650single nucleotide variantNM_001379110.1(SLC9A6):c.1005A>G (p.Val335=)Christianson syndrome [RCV002067052]|Inborn genetic diseases [RCV002316693]benign|likely benignX136013362136013362Human2name , alternate_id
13830515CV580775single nucleotide variantNM_001379110.1(SLC9A6):c.1833A>T (p.Thr611=)Christianson syndrome [RCV000871440]|Inborn genetic diseases [RCV002317633]likely benignX136044517136044517Human2name , alternate_id
14713052CV656732single nucleotide variantNM_001379110.1(SLC9A6):c.1038G>T (p.Thr346=)Christianson syndrome [RCV001458153]|not provided [RCV000828607]likely benignX136013395136013395Human1name , alternate_id
15123768CV684948single nucleotide variantNM_001379110.1(SLC9A6):c.1119C>T (p.Ile373=)Christianson syndrome [RCV002064449]|not provided [RCV000862299]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX136016683136016683Human1name , alternate_id
15143031CV773770single nucleotide variantNM_001379110.1(SLC9A6):c.2031T>A (p.Gly677=)Christianson syndrome [RCV001466320]likely benignX136044715136044715Human1name , alternate_id
15110890CV786706single nucleotide variantNM_001379110.1(SLC9A6):c.1566A>C (p.Ser522=)Christianson syndrome [RCV001501049]likely benignX136030147136030147Human1name , alternate_id
40886943CV974307deletionNM_001379110.1(SLC9A6):c.465del (p.Ser158fs)Inborn genetic diseases [RCV001266270]pathogenicX135998499135998499Human1name
8642293CV101277single nucleotide variantNM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter)Christianson syndrome [RCV001507034]|not provided [RCV000081397]pathogenicX136012979136012979Human1name , alternate_id
126735387CV1014769single nucleotide variantNM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln)Christianson syndrome [RCV001313713]uncertain significanceX135998495135998495Human1name , alternate_id
126915828CV1052282single nucleotide variantNM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala)Christianson syndrome [RCV001360212]|not provided [RCV001751705]uncertain significanceX135998965135998965Human1name , alternate_id
127241102CV1065164single nucleotide variantNM_001379110.1(SLC9A6):c.953G>T (p.Trp318Leu)Christianson syndrome [RCV001383590]pathogenicX136013016136013016Humanname , alternate_id
150422502CV1182057single nucleotide variantNM_001379110.1(SLC9A6):c.475A>G (p.Ile159Val)Christianson syndrome [RCV002568344]|not provided [RCV001552734]uncertain significanceX135998509135998509Human1name , alternate_id
150419156CV1199424duplicationNM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)Christianson syndrome [RCV002072270]|not provided [RCV001577049]pathogenic|likely pathogenicX136024459136024460Human1name , alternate_id
150497969CV1224058deletionNM_001379110.1(SLC9A6):c.1661+114_1661+172delnot provided [RCV001620170]benignX136033604136033662Humanname
150527909CV1300918single nucleotide variantNM_001379110.1(SLC9A6):c.420A>G (p.Ile140Met)not provided [RCV001754778]uncertain significanceX135998158135998158Humanname
150552223CV1302307single nucleotide variantNM_001379110.1(SLC9A6):c.574G>T (p.Ala192Ser)Christianson syndrome [RCV005095003]|not provided [RCV001767571]uncertain significanceX135998905135998905Human1name , alternate_id
150542099CV1302487single nucleotide variantNM_001379110.1(SLC9A6):c.921G>C (p.Leu307Phe)not provided [RCV001761177]uncertain significanceX136012984136012984Humanname
150550672CV1305073single nucleotide variantNM_001379110.1(SLC9A6):c.803T>A (p.Met268Lys)not provided [RCV001765853]uncertain significanceX136010501136010501Humanname
151750391CV1357463single nucleotide variantNM_001379110.1(SLC9A6):c.534G>A (p.Met178Ile)Christianson syndrome [RCV001872197]uncertain significanceX135998865135998865Human1name , alternate_id
151803067CV1375422single nucleotide variantNM_001379110.1(SLC9A6):c.902A>G (p.Lys301Arg)Christianson syndrome [RCV001953106]uncertain significanceX136012965136012965Human1name , alternate_id
151719196CV1397525single nucleotide variantNM_001379110.1(SLC9A6):c.803T>C (p.Met268Thr)Christianson syndrome [RCV001982794]uncertain significanceX136010501136010501Human1name , alternate_id
151806708CV1400088deletionNM_001379110.1(SLC9A6):c.1644del (p.Trp548fs)Christianson syndrome [RCV002012056]pathogenicX136033475136033475Human1name , alternate_id
151784582CV1435231single nucleotide variantNM_001379110.1(SLC9A6):c.682C>T (p.Leu228Phe)Christianson syndrome [RCV001916190]uncertain significanceX136002152136002152Human1name , alternate_id
151802695CV1437640single nucleotide variantNM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val)Christianson syndrome [RCV001899205]uncertain significanceX135998138135998138Human1name , alternate_id
151866481CV1472520single nucleotide variantNM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe)Christianson syndrome [RCV002018407]uncertain significanceX135998108135998108Human1name , alternate_id
151892572CV1493672single nucleotide variantNM_001379110.1(SLC9A6):c.959C>G (p.Thr320Ser)Christianson syndrome [RCV001944253]uncertain significanceX136013022136013022Human1name , alternate_id
152104013CV1667565single nucleotide variantNM_001379110.1(SLC9A6):c.991G>C (p.Gly331Arg)not provided [RCV002214553]likely pathogenicX136013054136013054Humanname
9683843CV169941single nucleotide variantNM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val)Christianson syndrome [RCV000147545]|not provided [RCV003436957]uncertain significanceX135998860135998860Human1name , alternate_id
155749701CV1776376single nucleotide variantNM_001379110.1(SLC9A6):c.775A>G (p.Asn259Asp)Christianson syndrome [RCV002304927]uncertain significanceX136010473136010473Human1name , alternate_id
155696182CV1800670single nucleotide variantNM_001379110.1(SLC9A6):c.539G>A (p.Gly180Asp)Inborn genetic diseases [RCV002357928]|not provided [RCV002511162]uncertain significanceX135998870135998870Human1name
155717376CV1822953single nucleotide variantNM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly)Christianson syndrome [RCV003103392]|Inborn genetic diseases [RCV002380232]uncertain significanceX136002144136002144Human2name , alternate_id
155798745CV1860778deletionNM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)Christianson syndrome [RCV002467421]likely pathogenicX136016753136016753Human1name , alternate_id
156167224CV1866936single nucleotide variantNM_001379110.1(SLC9A6):c.586T>C (p.Tyr196His)not provided [RCV002508488]uncertain significanceX135998917135998917Humanname
10052179CV194438single nucleotide variantNM_001379110.1(SLC9A6):c.454T>G (p.Phe152Val)not provided [RCV000178269]uncertain significanceX135998488135998488Humanname
10053043CV195701single nucleotide variantNM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu)Christianson syndrome [RCV001542375]|not provided [RCV000179915]uncertain significanceX136010523136010523Human1name , alternate_id
156155682CV1967632single nucleotide variantNM_001379110.1(SLC9A6):c.766G>C (p.Ala256Pro)Christianson syndrome [RCV002594293]uncertain significanceX136010464136010464Human1name , alternate_id
10398314CV203984single nucleotide variantNM_001379110.1(SLC9A6):c.338A>G (p.Asn113Ser)not specified [RCV000502979]uncertain significanceX135994954135994954Humanname
10398315CV203986single nucleotide variantNM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly)Christianson syndrome [RCV001229044]|not provided [RCV000189406]uncertain significanceX135998482135998482Human1name , alternate_id
10398310CV203987single nucleotide variantNM_001379110.1(SLC9A6):c.452A>T (p.His151Leu)Christianson syndrome [RCV001342805]|not specified [RCV000189401]likely benign|uncertain significanceX135998486135998486Human1name , alternate_id
10398316CV203988single nucleotide variantNM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)Christianson syndrome [RCV001051665]|not provided [RCV000189407]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX135998521135998521Human1name , alternate_id
10398329CV203992single nucleotide variantNM_001379110.1(SLC9A6):c.563C>T (p.Thr188Met)Christianson syndrome [RCV001370517]|not provided [RCV000189421]uncertain significanceX135998894135998894Human1name , alternate_id
156134696CV2113243single nucleotide variantNM_001379110.1(SLC9A6):c.569A>G (p.Gln190Arg)Christianson syndrome [RCV002928334]uncertain significanceX135998900135998900Human1name , alternate_id
156236355CV2155732single nucleotide variantNM_001379110.1(SLC9A6):c.814A>G (p.Ile272Val)Christianson syndrome [RCV003007936]uncertain significanceX136010512136010512Human1name , alternate_id
156000434CV2159446single nucleotide variantNM_001379110.1(SLC9A6):c.932G>A (p.Gly311Asp)Christianson syndrome [RCV003017247]uncertain significanceX136012995136012995Human1name , alternate_id
156394307CV2181782single nucleotide variantNM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter)Christianson syndrome [RCV003051683]pathogenicX136013016136013016Human1name , alternate_id
156448836CV2402256single nucleotide variantNM_001379110.1(SLC9A6):c.512G>A (p.Cys171Tyr)not provided [RCV003120415]uncertain significanceX135998546135998546Humanname
329848033CV2667652single nucleotide variantNM_001379110.1(SLC9A6):c.746C>T (p.Ser249Leu)not provided [RCV003229219]uncertain significanceX136010444136010444Humanname
401870165CV2749323single nucleotide variantNM_001379110.1(SLC9A6):c.679G>A (p.Glu227Lys)not provided [RCV003332451]uncertain significanceX136002149136002149Humanname
404986384CV2854643single nucleotide variantNM_001379110.1(SLC9A6):c.609T>G (p.Phe203Leu)Christianson syndrome [RCV003512329]uncertain significanceX135998940135998940Human1name , alternate_id
404987169CV2859083single nucleotide variantNM_001379110.1(SLC9A6):c.897C>G (p.Phe299Leu)Christianson syndrome [RCV003512419]uncertain significanceX136012960136012960Human1name , alternate_id
404992425CV2870707single nucleotide variantNM_001379110.1(SLC9A6):c.980G>A (p.Trp327Ter)Christianson syndrome [RCV003512964]pathogenicX136013043136013043Human1name , alternate_id
404983799CV2910336single nucleotide variantNM_001379110.1(SLC9A6):c.622T>A (p.Ser208Thr)Christianson syndrome [RCV003511927]uncertain significanceX135998953135998953Human1name , alternate_id
402472454CV2946305single nucleotide variantNM_001379110.1(SLC9A6):c.533T>C (p.Met178Thr)Christianson syndrome [RCV003624538]uncertain significanceX135998864135998864Human1name , alternate_id
402476100CV2987928single nucleotide variantNM_001379110.1(SLC9A6):c.750A>G (p.Ile250Met)Christianson syndrome [RCV003625310]uncertain significanceX136010448136010448Human1name , alternate_id
402478736CV3005174duplicationNM_001379110.1(SLC9A6):c.1684dup (p.His562fs)Christianson syndrome [RCV003625770]pathogenicX136040095136040096Human1name , alternate_id
405771451CV3322420single nucleotide variantNM_001379110.1(SLC9A6):c.481G>T (p.Ala161Ser)Inborn genetic diseases [RCV004457051]uncertain significanceX135998515135998515Human1name
408365212CV3500398single nucleotide variantNM_001379110.1(SLC9A6):c.413C>A (p.Pro138His)Christianson syndrome [RCV004720602]likely pathogenicX135998151135998151Human1name , alternate_id
408391425CV3521079single nucleotide variantNM_001379110.1(SLC9A6):c.452A>C (p.His151Pro)not provided [RCV004762901]uncertain significanceX135998486135998486Humanname
408394731CV3522056single nucleotide variantNM_001379110.1(SLC9A6):c.460C>T (p.Arg154Ter)Christianson syndrome [RCV004764840]|not provided [RCV004787166]pathogenic|likely pathogenicX135998494135998494Human1name , alternate_id
408388701CV3522696single nucleotide variantNM_001379110.1(SLC9A6):c.619G>T (p.Val207Leu)not provided [RCV004769077]uncertain significanceX135998950135998950Humanname
408388873CV3529129single nucleotide variantNM_001379110.1(SLC9A6):c.716A>G (p.Asn239Ser)not provided [RCV004773951]uncertain significanceX136002186136002186Humanname
596924211CV3532130single nucleotide variantNM_001379110.1(SLC9A6):c.497G>A (p.Gly166Glu)not provided [RCV004777241]uncertain significanceX135998531135998531Humanname
596942812CV3544212single nucleotide variantNM_001379110.1(SLC9A6):c.881C>T (p.Ala294Val)not specified [RCV004800204]uncertain significanceX136010579136010579Humanname
597909474CV3749533single nucleotide variantNM_001379110.1(SLC9A6):c.800C>T (p.Ala267Val)Christianson syndrome [RCV005073381]uncertain significanceX136010498136010498Human1name , alternate_id
597921924CV3774996single nucleotide variantNM_001379110.1(SLC9A6):c.570A>C (p.Gln190His)Christianson syndrome [RCV005115342]uncertain significanceX135998901135998901Human1name , alternate_id
597936258CV3777629single nucleotide variantNM_001379110.1(SLC9A6):c.743C>T (p.Ser248Phe)Christianson syndrome [RCV005132542]uncertain significanceX136002213136002213Human1name , alternate_id
597916503CV3779380single nucleotide variantNM_001379110.1(SLC9A6):c.593C>G (p.Thr198Arg)Christianson syndrome [RCV005129521]uncertain significanceX135998924135998924Human1name , alternate_id
597930108CV3789255single nucleotide variantNM_001379110.1(SLC9A6):c.740C>T (p.Ser247Phe)Christianson syndrome [RCV005131536]uncertain significanceX136002210136002210Human1name , alternate_id
597964473CV3792278single nucleotide variantNM_001379110.1(SLC9A6):c.401T>A (p.Ile134Lys)Christianson syndrome [RCV005139835]uncertain significanceX135998139135998139Human1name , alternate_id
598126713CV3882168single nucleotide variantNM_001379110.1(SLC9A6):c.833T>G (p.Ile278Ser)not provided [RCV005233719]uncertain significanceX136010531136010531Humanname
598122980CV3890130single nucleotide variantNM_001379110.1(SLC9A6):c.346C>T (p.Gln116Ter)not provided [RCV005250649]uncertain significanceX135994962135994962Humanname
616935614CV4016156deletionNM_001379110.1(SLC9A6):c.1799del (p.Asp600fs)not provided [RCV005415022]uncertain significanceX136044483136044483Humanname
13212073CV426406single nucleotide variantNM_001379110.1(SLC9A6):c.731T>G (p.Ile244Arg)not provided [RCV000498299]uncertain significanceX136002201136002201Humanname
13499293CV471285single nucleotide variantNM_001379110.1(SLC9A6):c.886G>A (p.Val296Met)Christianson syndrome [RCV000532326]uncertain significanceX136012949136012949Human1name , alternate_id
13464771CV471722single nucleotide variantNM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys)Christianson syndrome [RCV000543846]|not provided [RCV002464255]uncertain significanceX135998163135998163Human1name , alternate_id
13529057CV508504single nucleotide variantNM_001379110.1(SLC9A6):c.370G>A (p.Val124Ile)not specified [RCV000600194]likely benignX135998108135998108Humanname
13535492CV508505single nucleotide variantNM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)Christianson syndrome [RCV002065336]|Inborn genetic diseases [RCV002358707]|not provided [RCV000871818]likely benign|uncertain significanceX135998551135998551Human2name , alternate_id
13822336CV575333single nucleotide variantNM_001379110.1(SLC9A6):c.559G>A (p.Val187Ile)Christianson syndrome [RCV000697166]uncertain significanceX135998890135998890Human1name , alternate_id
14733252CV649714single nucleotide variantNM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu)Christianson syndrome [RCV000802213]uncertain significanceX135998131135998131Human1name , alternate_id
14729217CV649716single nucleotide variantNM_001379110.1(SLC9A6):c.652A>G (p.Ile218Val)Christianson syndrome [RCV000800387]uncertain significanceX136002122136002122Human1name , alternate_id
21404300CV802043single nucleotide variantNM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp)Christianson syndrome [RCV001004677]pathogenicX136013349136013349Human1name , alternate_id
38490909CV929573single nucleotide variantNM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val)Christianson syndrome [RCV001222469]uncertain significanceX136013034136013034Human1name , alternate_id
38462365CV939443single nucleotide variantNM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)Christianson syndrome [RCV001212192]|Inborn genetic diseases [RCV004671258]|Intellectual disability [RCV001251651]uncertain significanceX135998879135998879Human4name , alternate_id
40904208CV976678single nucleotide variantNM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)Christianson syndrome [RCV001270374]|Inborn genetic diseases [RCV002541646]uncertain significanceX135998540135998540Human2name , alternate_id
40904230CV976679single nucleotide variantNM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)Christianson syndrome [RCV001270393]uncertain significanceX136010519136010519Human1name , alternate_id
41406638CV983240single nucleotide variantNM_001379110.1(SLC9A6):c.908G>T (p.Arg303Leu)not provided [RCV001288765]uncertain significanceX136012971136012971Humanname
126767687CV999621single nucleotide variantNM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser)Christianson syndrome [RCV001302383]uncertain significanceX136013045136013045Human1name , alternate_id
126741832CV1014770single nucleotide variantNM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe)Christianson syndrome [RCV001325395]uncertain significanceX136040125136040125Human1name , alternate_id
126735617CV1014771single nucleotide variantNM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His)Christianson syndrome [RCV001313742]uncertain significanceX136044452136044452Human1name , alternate_id
126764756CV1014772single nucleotide variantNM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser)Christianson syndrome [RCV001319777]conflicting interpretations of pathogenicity|uncertain significanceX136044702136044702Human1name , alternate_id
126751705CV1035363single nucleotide variantNM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys)Christianson syndrome [RCV001338290]uncertain significanceX136024443136024443Human1name , alternate_id
126766230CV1035364single nucleotide variantNM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr)Christianson syndrome [RCV001342341]uncertain significanceX136044560136044560Human1name , alternate_id
126916413CV1052283single nucleotide variantNM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser)Christianson syndrome [RCV001360563]uncertain significanceX136016721136016721Human1name , alternate_id
126918509CV1052284single nucleotide variantNM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu)Christianson syndrome [RCV001372697]uncertain significanceX136044642136044642Human1name , alternate_id
127230109CV1086285single nucleotide variantNM_001379110.1(SLC9A6):c.1862C>T (p.Pro621Leu)Christianson syndrome [RCV001394571]|Inborn genetic diseases [RCV002413932]likely benignX136044546136044546Human2name , alternate_id
127280194CV1108029single nucleotide variantNM_001379110.1(SLC9A6):c.1844C>T (p.Ser615Phe)Christianson syndrome [RCV001446311]likely benignX136044528136044528Human1name , alternate_id
127306221CV1159370single nucleotide variantNM_001379110.1(SLC9A6):c.1922G>A (p.Arg641Gln)Christianson syndrome [RCV001516540]benignX136044606136044606Human1name , alternate_id
150406019CV1195700single nucleotide variantNM_001379110.1(SLC9A6):c.1313G>A (p.Arg438His)Christianson syndrome [RCV003485721]|not provided [RCV001571891]uncertain significanceX136024336136024336Human1name , alternate_id
150495713CV1205075single nucleotide variantNM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn)Christianson syndrome [RCV001866179]|not provided [RCV001593567]benign|likely benign|uncertain significanceX136022660136022660Human1name , alternate_id
150460316CV1205756single nucleotide variantNM_001379110.1(SLC9A6):c.1738A>T (p.Arg580Trp)Christianson syndrome [RCV002573338]|not provided [RCV001586713]uncertain significanceX136040152136040152Human1name , alternate_id
150434480CV1243961single nucleotide variantNM_001379110.1(SLC9A6):c.1159C>T (p.His387Tyr)not provided [RCV001665168]likely pathogenicX136016723136016723Humanname
150547988CV1303955single nucleotide variantNM_001379110.1(SLC9A6):c.1849G>A (p.Val617Met)not provided [RCV001764058]uncertain significanceX136044533136044533Humanname
151889996CV1350398single nucleotide variantNM_001379110.1(SLC9A6):c.1588C>G (p.Pro530Ala)Christianson syndrome [RCV002038715]uncertain significanceX136033420136033420Human1name , alternate_id
151757819CV1361499single nucleotide variantNM_001379110.1(SLC9A6):c.1690G>A (p.Gly564Arg)Christianson syndrome [RCV001928164]uncertain significanceX136040104136040104Human1name , alternate_id
151844112CV1375892single nucleotide variantNM_001379110.1(SLC9A6):c.1958G>A (p.Arg653Gln)Christianson syndrome [RCV001995111]uncertain significanceX136044642136044642Human1name , alternate_id
151713214CV1394637single nucleotide variantNM_001379110.1(SLC9A6):c.1826G>A (p.Ser609Asn)Christianson syndrome [RCV001889808]uncertain significanceX136044510136044510Human1name , alternate_id
151821123CV1416311single nucleotide variantNM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr)Christianson syndrome [RCV001919584]|Inborn genetic diseases [RCV004044157]uncertain significanceX136044639136044639Human2name , alternate_id
151823388CV1425180single nucleotide variantNM_001379110.1(SLC9A6):c.1055C>T (p.Thr352Met)Christianson syndrome [RCV001919797]|not provided [RCV004762227]uncertain significanceX136013412136013412Human1name , alternate_id
8692944CV142910single nucleotide variantNM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)Christianson syndrome [RCV001080901]|Inborn genetic diseases [RCV002312605]|Intellectual disability [RCV001251650]|not provided [RCV000223989]|not specified [RCV000174756]benign|likely benign|conflicting interpretations of pathogenicityX136033469136033469Human4name , alternate_id
151868843CV1438177single nucleotide variantNM_001379110.1(SLC9A6):c.1037C>T (p.Thr346Met)Christianson syndrome [RCV001906210]uncertain significanceX136013394136013394Human1name , alternate_id
151814551CV1444477single nucleotide variantNM_001379110.1(SLC9A6):c.2006A>G (p.Asn669Ser)Christianson syndrome [RCV001933537]uncertain significanceX136044690136044690Human1name , alternate_id
151886686CV1455174single nucleotide variantNM_001379110.1(SLC9A6):c.2000C>T (p.Pro667Leu)Christianson syndrome [RCV002038025]uncertain significanceX136044684136044684Human1name , alternate_id
151873422CV1467362single nucleotide variantNM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met)Christianson syndrome [RCV001925505]|Inborn genetic diseases [RCV002557565]|not provided [RCV003438893]uncertain significanceX136024408136024408Human2name , alternate_id
151889386CV1468647single nucleotide variantNM_001379110.1(SLC9A6):c.1983G>A (p.Met661Ile)Christianson syndrome [RCV002001282]|not specified [RCV004782846]uncertain significanceX136044667136044667Human1name , alternate_id
151796669CV1499673single nucleotide variantNM_001379110.1(SLC9A6):c.1223A>G (p.Asn408Ser)Christianson syndrome [RCV001917326]uncertain significanceX136022614136022614Human1name , alternate_id
151709740CV1501946single nucleotide variantNM_001379110.1(SLC9A6):c.1721G>A (p.Cys574Tyr)Christianson syndrome [RCV001907739]uncertain significanceX136040135136040135Human1name , alternate_id
152981883CV1678841single nucleotide variantNM_001379110.1(SLC9A6):c.1387C>T (p.Leu463Phe)Christianson syndrome [RCV003774724]|not provided [RCV002248231]uncertain significanceX136024410136024410Human1name , alternate_id
153302437CV1688225single nucleotide variantNM_001379110.1(SLC9A6):c.1939G>A (p.Asp647Asn)Christianson syndrome [RCV005095935]|not provided [RCV002265451]uncertain significanceX136044623136044623Human1name , alternate_id
153301116CV1688961single nucleotide variantNM_001379110.1(SLC9A6):c.1814A>T (p.Asp605Val)Christianson syndrome [RCV002266689]uncertain significanceX136044498136044498Human1name , alternate_id
153348907CV1692953single nucleotide variantNM_001379110.1(SLC9A6):c.1150T>C (p.Phe384Leu)not provided [RCV002274809]uncertain significanceX136016714136016714Humanname
153348069CV1695118single nucleotide variantNM_001379110.1(SLC9A6):c.1438A>C (p.Met480Leu)not provided [RCV002279049]uncertain significanceX136024461136024461Humanname
9683839CV169942single nucleotide variantNM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter)Christianson syndrome [RCV000147541]pathogenicX136044696136044696Human1name , alternate_id
155267672CV1705072single nucleotide variantNM_001379110.1(SLC9A6):c.1658A>G (p.His553Arg)not provided [RCV002285677]uncertain significanceX136033490136033490Humanname
10050087CV191400single nucleotide variantNM_001379110.1(SLC9A6):c.1558G>A (p.Val520Ile)not provided [RCV000174561]uncertain significanceX136030139136030139Humanname
10050184CV191557single nucleotide variantNM_001379110.1(SLC9A6):c.1599A>C (p.Glu533Asp)Christianson syndrome [RCV003624407]|not provided [RCV000723930]likely benign|uncertain significanceX136033431136033431Human1name , alternate_id
156408870CV1922086single nucleotide variantNM_001379110.1(SLC9A6):c.1664A>G (p.Tyr555Cys)Christianson syndrome [RCV002607378]uncertain significanceX136040078136040078Human1name , alternate_id
156440424CV1943477single nucleotide variantNM_001379110.1(SLC9A6):c.1201A>G (p.Ile401Val)Christianson syndrome [RCV003110457]uncertain significanceX136022592136022592Human1name , alternate_id
156348812CV1989285single nucleotide variantNM_001379110.1(SLC9A6):c.1330G>A (p.Ala444Thr)Christianson syndrome [RCV002631829]uncertain significanceX136024353136024353Human1name , alternate_id
156092189CV1994418single nucleotide variantNM_001379110.1(SLC9A6):c.1636C>T (p.Arg546Trp)Christianson syndrome [RCV002639261]uncertain significanceX136033468136033468Human1name , alternate_id
10398321CV203995single nucleotide variantNM_001379110.1(SLC9A6):c.1070G>C (p.Arg357Thr)not provided [RCV000766836]|not specified [RCV000189412]uncertain significanceX136013427136013427Humanname
10398330CV203997single nucleotide variantNM_001379110.1(SLC9A6):c.1588C>A (p.Pro530Thr)Christianson syndrome [RCV001346203]|not provided [RCV000189422]uncertain significanceX136033420136033420Human1name , alternate_id
10398323CV204000single nucleotide variantNM_001379110.1(SLC9A6):c.1751G>A (p.Ser584Asn)not provided [RCV000189415]uncertain significanceX136040165136040165Humanname
155927165CV2095785single nucleotide variantNM_001379110.1(SLC9A6):c.1871C>A (p.Ser624Tyr)Christianson syndrome [RCV002903632]uncertain significanceX136044555136044555Human1name , alternate_id
156227102CV2115415single nucleotide variantNM_001379110.1(SLC9A6):c.1951G>A (p.Val651Ile)Christianson syndrome [RCV002932680]uncertain significanceX136044635136044635Human1name , alternate_id
155984350CV2153717single nucleotide variantNM_001379110.1(SLC9A6):c.1132G>A (p.Gly378Arg)Christianson syndrome [RCV003016526]uncertain significanceX136016696136016696Human1name , alternate_id
156364864CV2187168single nucleotide variantNM_001379110.1(SLC9A6):c.1900A>G (p.Ser634Gly)Christianson syndrome [RCV003065882]likely benignX136044584136044584Human1name , alternate_id
156155293CV2190798single nucleotide variantNM_001379110.1(SLC9A6):c.1718C>G (p.Ala573Gly)Christianson syndrome [RCV003040509]uncertain significanceX136040132136040132Human1name , alternate_id
156240583CV2231287single nucleotide variantNM_001379110.1(SLC9A6):c.1387C>G (p.Leu463Val)Inborn genetic diseases [RCV002713351]uncertain significanceX136024410136024410Human1name
156087742CV2295449single nucleotide variantNM_001379110.1(SLC9A6):c.1702A>G (p.Thr568Ala)Inborn genetic diseases [RCV002887824]uncertain significanceX136040116136040116Human1name
243060720CV2408698single nucleotide variantNM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val)Christianson syndrome [RCV003136828]uncertain significanceX136044575136044575Human1name , alternate_id
329846442CV2534049single nucleotide variantNM_001379110.1(SLC9A6):c.1735G>A (p.Ala579Thr)Christianson syndrome [RCV003624509]|not provided [RCV003228255]uncertain significanceX136040149136040149Human1name , alternate_id
8598687CV26516single nucleotide variantNM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter)Christianson syndrome [RCV000012232]|not provided [RCV000627211]pathogenicX136024365136024365Human1name , alternate_id
11654342CV266052single nucleotide variantNM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)Christianson syndrome [RCV001321181]|not provided [RCV000724968]|not specified [RCV000316927]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX136044705136044705Human1name , alternate_id
329848316CV2667950single nucleotide variantNM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg)Christianson syndrome [RCV003229503]likely pathogenicX136016750136016750Human1name , alternate_id
329954101CV2669420single nucleotide variantNM_001379110.1(SLC9A6):c.1966C>T (p.Arg656Cys)not provided [RCV003231928]|not specified [RCV005406654]uncertain significanceX136044650136044650Humanname
329952937CV2669646single nucleotide variantNM_001379110.1(SLC9A6):c.1378A>G (p.Ser460Gly)Christianson syndrome [RCV005047478]|not provided [RCV003234269]uncertain significanceX136024401136024401Human1name , alternate_id
329953024CV2669733single nucleotide variantNM_001379110.1(SLC9A6):c.1777C>G (p.Gln593Glu)Inborn genetic diseases [RCV003274362]|not provided [RCV003234357]uncertain significanceX136044461136044461Human1name
401763666CV2725244single nucleotide variantNM_001379110.1(SLC9A6):c.1321A>G (p.Met441Val)Inborn genetic diseases [RCV003258285]uncertain significanceX136024344136024344Human1name
401828204CV2744563single nucleotide variantNM_001379110.1(SLC9A6):c.1570C>T (p.Gln524Ter)not provided [RCV003327961]pathogenicX136030151136030151Humanname
401872953CV2749702single nucleotide variantNM_001379110.1(SLC9A6):c.1042A>C (p.Asn348His)not provided [RCV003332831]uncertain significanceX136013399136013399Humanname
401877908CV2786855single nucleotide variantNM_001379110.1(SLC9A6):c.1394T>C (p.Ile465Thr)Inborn genetic diseases [RCV003383959]uncertain significanceX136024417136024417Human1name
401860318CV2794489single nucleotide variantNM_001379110.1(SLC9A6):c.1072A>G (p.Thr358Ala)not provided [RCV003387657]uncertain significanceX136013429136013429Humanname
404981153CV2896883single nucleotide variantNM_001379110.1(SLC9A6):c.1817G>T (p.Gly606Val)Christianson syndrome [RCV003511530]uncertain significanceX136044501136044501Human1name , alternate_id
402472993CV2948926single nucleotide variantNM_001379110.1(SLC9A6):c.1348A>G (p.Thr450Ala)Christianson syndrome [RCV003624660]uncertain significanceX136024371136024371Human1name , alternate_id
402475370CV2965299single nucleotide variantNM_001379110.1(SLC9A6):c.1690G>C (p.Gly564Arg)Christianson syndrome [RCV003625173]uncertain significanceX136040104136040104Human1name , alternate_id
402475619CV2965943single nucleotide variantNM_001379110.1(SLC9A6):c.1183G>A (p.Val395Ile)Christianson syndrome [RCV003625220]uncertain significanceX136016747136016747Human1name , alternate_id
402473732CV2970232single nucleotide variantNM_001379110.1(SLC9A6):c.1171C>A (p.Pro391Thr)Christianson syndrome [RCV003624854]uncertain significanceX136016735136016735Human1name , alternate_id
402475885CV2983968single nucleotide variantNM_001379110.1(SLC9A6):c.1700T>C (p.Leu567Pro)Christianson syndrome [RCV003625271]|not provided [RCV005254854]uncertain significanceX136040114136040114Human1name , alternate_id
402478848CV3008662single nucleotide variantNM_001379110.1(SLC9A6):c.1438A>G (p.Met480Val)Christianson syndrome [RCV003625786]uncertain significanceX136024461136024461Human1name , alternate_id
402478529CV3014593single nucleotide variantNM_001379110.1(SLC9A6):c.1921C>T (p.Arg641Trp)Christianson syndrome [RCV003625741]uncertain significanceX136044605136044605Human1name , alternate_id
402474203CV3078534single nucleotide variantNM_001379110.1(SLC9A6):c.1454A>G (p.His485Arg)Christianson syndrome [RCV003624950]|not provided [RCV004765973]uncertain significanceX136024477136024477Human1name , alternate_id
408369705CV3502848single nucleotide variantNM_001379110.1(SLC9A6):c.1796C>T (p.Ser599Phe)not provided [RCV004723969]uncertain significanceX136044480136044480Humanname
408385420CV3527017single nucleotide variantNM_001379110.1(SLC9A6):c.1288C>G (p.His430Asp)not provided [RCV004772330]uncertain significanceX136022679136022679Humanname
408386096CV3528793single nucleotide variantNM_001379110.1(SLC9A6):c.1408G>A (p.Val470Met)not provided [RCV004772626]uncertain significanceX136024431136024431Humanname
596921675CV3535297single nucleotide variantNM_001379110.1(SLC9A6):c.1844C>G (p.Ser615Cys)not provided [RCV004784856]uncertain significanceX136044528136044528Humanname
596927233CV3536532single nucleotide variantNM_001379110.1(SLC9A6):c.1313G>T (p.Arg438Leu)Christianson syndrome [RCV004789941]uncertain significanceX136024336136024336Human1name , alternate_id
596927106CV3539927single nucleotide variantNM_001379110.1(SLC9A6):c.1034A>C (p.Tyr345Ser)not provided [RCV004790918]uncertain significanceX136013391136013391Humanname
596946011CV3550328single nucleotide variantNM_001379110.1(SLC9A6):c.1871C>G (p.Ser624Cys)Christianson syndrome [RCV004818868]uncertain significanceX136044555136044555Human1name , alternate_id
597833637CV3735655single nucleotide variantNM_001379110.1(SLC9A6):c.1231C>A (p.Pro411Thr)not provided [RCV005063517]uncertain significanceX136022622136022622Humanname
597833736CV3735685single nucleotide variantNM_001379110.1(SLC9A6):c.1714C>A (p.Pro572Thr)not provided [RCV005063547]uncertain significanceX136040128136040128Humanname
597957299CV3751403single nucleotide variantNM_001379110.1(SLC9A6):c.1940A>G (p.Asp647Gly)Christianson syndrome [RCV005080708]uncertain significanceX136044624136044624Human1name , alternate_id
597922514CV3781779single nucleotide variantNM_001379110.1(SLC9A6):c.1709C>T (p.Thr570Ile)Christianson syndrome [RCV005130451]uncertain significanceX136040123136040123Human1name , alternate_id
597932125CV3786130single nucleotide variantNM_001379110.1(SLC9A6):c.1186G>T (p.Gly396Ter)Christianson syndrome [RCV005131838]pathogenicX136016750136016750Human1name , alternate_id
597974112CV3801751single nucleotide variantNM_001379110.1(SLC9A6):c.2011T>G (p.Leu671Val)Christianson syndrome [RCV005143740]uncertain significanceX136044695136044695Human1name , alternate_id
616938161CV4013168single nucleotide variantNM_001379110.1(SLC9A6):c.1142T>C (p.Leu381Pro)not provided [RCV005410635]uncertain significanceX136016706136016706Humanname
616936367CV4016405single nucleotide variantNM_001379110.1(SLC9A6):c.1574A>T (p.Glu525Val)not provided [RCV005415271]uncertain significanceX136030155136030155Humanname
617150640CV4018895single nucleotide variantNM_001379110.1(SLC9A6):c.1772A>C (p.Gln591Pro)not provided [RCV005423303]uncertain significanceX136044456136044456Humanname
617154232CV4022587single nucleotide variantNM_001379110.1(SLC9A6):c.1960G>C (p.Gly654Arg)not provided [RCV005429944]uncertain significanceX136044644136044644Humanname
13612054CV514121single nucleotide variantNM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)Astigmatism [RCV000626738]uncertain significanceX136016754136016754Human2name
13618638CV534533single nucleotide variantNM_001379110.1(SLC9A6):c.1873A>G (p.Ser625Gly)Christianson syndrome [RCV000646195]uncertain significanceX136044557136044557Human1name , alternate_id
13806594CV573553single nucleotide variantNM_001379110.1(SLC9A6):c.1316G>A (p.Gly439Asp)Christianson syndrome [RCV000700654]likely pathogenic|uncertain significanceX136024339136024339Human1name , alternate_id
21067960CV793874single nucleotide variantNM_001379110.1(SLC9A6):c.1599A>T (p.Glu533Asp)Christianson syndrome [RCV003624436]|not provided [RCV000993017]likely benign|uncertain significanceX136033431136033431Human1name , alternate_id
26899932CV849666single nucleotide variantNM_001379110.1(SLC9A6):c.1934T>G (p.Phe645Cys)Christianson syndrome [RCV001035156]uncertain significanceX136044618136044618Human1name , alternate_id
38492183CV929575single nucleotide variantNM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser)Christianson syndrome [RCV001223382]uncertain significanceX136033414136033414Human1name , alternate_id
38478183CV929576single nucleotide variantNM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser)Christianson syndrome [RCV001216484]|not provided [RCV005232181]uncertain significanceX136044680136044680Human1name , alternate_id
38468962CV939444single nucleotide variantNM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)Christianson syndrome [RCV001213237]|not provided [RCV005253740]uncertain significanceX136030136136030136Human1name , alternate_id
38477343CV951618single nucleotide variantNM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu)Christianson syndrome [RCV001233445]uncertain significanceX136040141136040141Human1name , alternate_id
38486598CV951619single nucleotide variantNM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile)Christianson syndrome [RCV001237236]uncertain significanceX136044516136044516Human1name , alternate_id
8574062CV97547single nucleotide variantNM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter)Christianson syndrome [RCV000077787]pathogenicX136030154136030154Human1name , alternate_id
126728712CV999622single nucleotide variantNM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys)Christianson syndrome [RCV001303447]|not provided [RCV004720844]uncertain significanceX136040179136040179Human1name , alternate_id
10398332CV203993microsatelliteNM_001379110.1(SLC9A6):c.797_798del (p.Thr266fs)not provided [RCV000189424]pathogenicX136010493136010494Humanname
8562508CV26518deletionNM_001379110.1(SLC9A6):c.452_453del (p.His151fs)Christianson syndrome [RCV000012234]pathogenicX135998486135998487Human1name , alternate_id
408379428CV3506954deletionNM_001379110.1(SLC9A6):c.565_583del (p.Gly189fs)SLC9A6-related disorder [RCV004728443]likely pathogenicX135998896135998914Humanname , trait , alternate_id
14691471CV615978microsatelliteNM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs)Christianson syndrome [RCV000770998]pathogenicX135998156135998157Humanname , alternate_id
21073814CV792124microsatelliteNM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del)Christianson syndrome [RCV000990950]likely pathogenicX136002161136002163Humanname , alternate_id
155670760CV1832423microsatelliteNM_001379110.1(SLC9A6):c.1260AAG[1] (p.Arg421del)Inborn genetic diseases [RCV002385721]uncertain significanceX136022649136022651Humanname
408394186CV3521776deletionNM_001379110.1(SLC9A6):c.1625_1643del (p.Ala542fs)Christianson syndrome [RCV004764575]likely pathogenicX136033454136033472Human1name , alternate_id
597942938CV3786338deletionNM_001379110.1(SLC9A6):c.1418_1419del (p.Phe473fs)Christianson syndrome [RCV005134029]pathogenicX136024440136024441Human1name , alternate_id
12894335CV411132deletionNM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)Christianson syndrome [RCV001251111]|Global developmental delay [RCV001004015]|not provided [RCV000482382]pathogenic|likely pathogenicX136016706136016707Human8name , alternate_id
21075053CV798807deletionNM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs)Christianson syndrome [RCV000995874]pathogenicX136033429136033433Human1name , alternate_id
38489195CV929574microsatelliteNM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs)Christianson syndrome [RCV001221608]pathogenicX136022633136022636Humanname , alternate_id
597650082CV3730463deletionNM_001379110.1(SLC9A6):c.16_42del (p.Val6_Ser14del)not provided [RCV005000752]uncertain significanceX135985673135985699Humanname
40814242CV967022indelNM_001379110.1(SLC9A6):c.1195-4_1201delinsAGGTTGCTGIntellectual disability [RCV001257722]likely benignX136022582136022592Humanname
150557059CV1310388insertionNM_001379110.1(SLC9A6):c.1423_1424insCA (p.Gly475fs)Christianson syndrome [RCV001775316]likely pathogenicX136024446136024447Human1name , alternate_id
153349814CV1694003indelNM_001379110.1(SLC9A6):c.442_444delinsC (p.Lys148fs)not provided [RCV002276235]likely pathogenicX135998180135998182Humanname
14707784CV649713deletionNM_001379110.1(SLC9A6):c.71_88del (p.Ile24_Leu29del)Christianson syndrome [RCV000808896]uncertain significanceX135985722135985739Human1name , alternate_id
596945107CV3543720indelNM_001379110.1(SLC9A6):c.841_842delinsAA (p.Gly281Lys)not provided [RCV004801842]uncertain significanceX136010539136010540Humanname
596926790CV3530921indelNM_001379110.1(SLC9A6):c.937_939delinsCTG (p.Phe313Leu)not provided [RCV004778506]uncertain significanceX136013000136013002Humanname
8562506CV26515deletionNM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del)Christianson syndrome [RCV000012231]pathogenicX136002171136002176Human1name , alternate_id
8568024CV38904deletionNM_001379110.1(SLC9A6):c.856_864del (p.Gly286_Ala288del)Christianson syndrome [RCV000022841]pathogenicX136010554136010562Human1name , alternate_id
13489852CV446505indelNM_001379110.1(SLC9A6):c.1224_1230delinsGTCTTGGGAAGAGCT (p.Asn408fs)not provided [RCV000524019]pathogenicX136022615136022621Humanname
126771903CV1001914duplicationNC_000023.10:g.(?_135067642)_(135106662_?)dupChristianson syndrome [RCV001323426]uncertain significanceHumanalternate_id
126756176CV1022433duplicationNC_000023.10:g.(?_135080257)_(135292184_?)dupChristianson syndrome [RCV001339208]uncertain significanceHuman1alternate_id
127262411CV1058183deletionNC_000023.10:g.(?_135104735)_(135106652_?)delChristianson syndrome [RCV001387709]pathogenicHuman1alternate_id
151890220CV1447981duplicationNC_000023.10:g.(?_135067662)_(135068006_?)dupChristianson syndrome [RCV001942982]uncertain significanceHuman1alternate_id
151838460CV1490938deletionNC_000023.10:g.(?_135067662)_(136652229_?)delChristianson syndrome [RCV003107929]|Heterotaxy, visceral, 1, X-linked [RCV001956452]|Hyper-IgM syndrome type 1 [RCV001956451]pathogenicHuman3alternate_id
156439540CV1943306deletionNC_000023.10:g.(?_135104725)_(135106662_?)delChristianson syndrome [RCV003109506]pathogenicHuman1alternate_id
156439541CV1943307duplicationNC_000023.10:g.(?_135080247)_(135126903_?)dupChristianson syndrome [RCV003109507]uncertain significanceHuman1alternate_id
156439542CV1943308deletionNC_000023.10:g.(?_135104725)_(135104876_?)delChristianson syndrome [RCV003109508]pathogenicHuman1alternate_id
11522953CV245213deletionNM_001042537:c.916delCChristianson syndrome [RCV000236651]pathogenicHuman1alternate_id
405876963CV3406452deletionNC_000023.10:g.(?_135067662)_(135126883_?)delChristianson syndrome [RCV004581980]pathogenicHuman1alternate_id
405876972CV3406461deletionNC_000023.10:g.(?_135112271)_(135112341_?)delChristianson syndrome [RCV004581989]pathogenicHuman1alternate_id
405876982CV3406471duplicationNC_000023.10:g.(?_135067662)_(135126883_?)dupChristianson syndrome [RCV004581999]uncertain significanceHuman1alternate_id
405877023CV3406483duplicationNC_000023.10:g.(?_135067662)_(135084392_?)dupChristianson syndrome [RCV004582011]uncertain significanceHuman1alternate_id
405876994CV3406494duplicationNC_000023.10:g.(?_135080247)_(135084392_?)dupChristianson syndrome [RCV004582022]likely pathogenicHuman1alternate_id
26891742CV821559duplicationNC_000023.11:g.(?_135985483)_(136024503_?)dupChristianson syndrome [RCV001032238]uncertain significanceHuman1alternate_id