| 598125855 | CV3883298 | single nucleotide variant | SLC9A6, TRP89ARG | Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment [RCV005233172] | pathogenic | | | | Human | 1 | name |
| 11542145 | CV248748 | deletion | SLC9A6, 5-BP DEL, IVS2AS | Christianson syndrome [RCV000240849] | pathogenic | | | | Human | | name , alternate_id |
| 598125854 | CV3883297 | insertion | SLC9A6, 1-BP INS, NT1464 | Christianson syndrome [RCV005233171] | pathogenic | | | | Human | 1 | name , alternate_id |
| 598125856 | CV3883299 | deletion | SLC9A6, 3-BP DEL, NT1357 | Christianson syndrome [RCV005233173]|Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment [RCV005233174] | pathogenic | | | | Human | 2 | name , alternate_id |
| 10398326 | CV203991 | duplication | NM_006359.2(SLC9A6):c.585dupG | not provided [RCV000189418] | pathogenic | X | 135998854 | 135998855 | Human | | name |
| 14722669 | CV670816 | single nucleotide variant | NM_006359.2(SLC9A6):c.-368G>A | not provided [RCV000832201] | benign | X | 135985135 | 135985135 | Human | | name |
| 14714303 | CV671003 | single nucleotide variant | NM_006359.2(SLC9A6):c.-349C>T | not provided [RCV000828993] | likely benign | X | 135985154 | 135985154 | Human | | name |
| 127254218 | CV1086279 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-1C>T | Christianson syndrome [RCV001400757] | likely benign | X | 135985658 | 135985658 | Human | 1 | name , alternate_id |
| 150451965 | CV1205460 | single nucleotide variant | NM_001379110.1(SLC9A6):c.*7T>C | not provided [RCV001585360] | likely benign | X | 136044731 | 136044731 | Human | | name |
| 151353650 | CV1327202 | single nucleotide variant | NM_001379110.1(SLC9A6):c.*6C>T | not specified [RCV001817146] | uncertain significance | X | 136044730 | 136044730 | Human | | name |
| 8692947 | CV142913 | single nucleotide variant | NM_001379110.1(SLC9A6):c.*8A>T | Christianson syndrome [RCV000861304]|History of neurodevelopmental disorder [RCV000715114]|Intellectual disability [RCV001251649]|not specified [RCV000128162] | benign|likely benign|uncertain significance | X | 136044732 | 136044732 | Human | 3 | name , alternate_id |
| 10398324 | CV203981 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-9G>T | Christianson syndrome [RCV000865182]|Inborn genetic diseases [RCV002390500]|SLC9A6-related disorder [RCV003917719]|not provided [RCV001721224] | likely benign|uncertain significance | X | 135985650 | 135985650 | Human | 2 | name , trait , alternate_id |
| 10398317 | CV203989 | single nucleotide variant | NM_006359.2(SLC9A6):c.584+1G>A | not provided [RCV000189408] | pathogenic | X | 135998559 | 135998559 | Human | | name |
| 401929623 | CV2824067 | single nucleotide variant | NM_001379110.1(SLC9A6):c.*1G>C | not provided [RCV003439899] | uncertain significance | X | 136044725 | 136044725 | Human | | name |
| 401929625 | CV2824068 | single nucleotide variant | NM_001379110.1(SLC9A6):c.*4T>C | not provided [RCV003439900] | uncertain significance | X | 136044728 | 136044728 | Human | | name |
| 404987137 | CV2858919 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-5G>C | Christianson syndrome [RCV003512415] | uncertain significance | X | 135985654 | 135985654 | Human | 1 | name , alternate_id |
| 12833850 | CV379920 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-4A>G | Christianson syndrome [RCV001507040]|not specified [RCV000419289] | benign|likely benign | X | 135985655 | 135985655 | Human | 1 | name , alternate_id |
| 127260981 | CV1108020 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-19C>A | Christianson syndrome [RCV001427997] | likely benign | X | 135985640 | 135985640 | Human | 1 | name , alternate_id |
| 8692948 | CV142914 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-16C>T | Christianson syndrome [RCV001078789]|not provided [RCV000724400]|not specified [RCV000213002] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 135985643 | 135985643 | Human | 1 | name , alternate_id |
| 155744176 | CV1842968 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-51G>A | Inborn genetic diseases [RCV002413149] | uncertain significance | X | 135985608 | 135985608 | Human | 1 | name |
| 156414540 | CV1986721 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-25C>T | Christianson syndrome [RCV002609249] | likely benign | X | 135985634 | 135985634 | Human | 1 | name , alternate_id |
| 156234350 | CV2076096 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-13A>C | Christianson syndrome [RCV002830170] | likely benign | X | 135985646 | 135985646 | Human | 1 | name , alternate_id |
| 10404538 | CV208875 | single nucleotide variant | NM_001379110.1(SLC9A6):c.*12C>T | Christianson syndrome [RCV004584209]|not specified [RCV000192610] | benign|conflicting interpretations of pathogenicity|uncertain significance | X | 136044736 | 136044736 | Human | 1 | name , alternate_id |
| 401828824 | CV2743160 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-27G>A | not provided [RCV003325869] | uncertain significance | X | 135985632 | 135985632 | Human | | name |
| 401828278 | CV2744638 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-53G>C | Christianson syndrome [RCV003777374]|Inborn genetic diseases [RCV005281380]|not provided [RCV003328037] | likely benign|uncertain significance | X | 135985606 | 135985606 | Human | 2 | name , alternate_id |
| 404995206 | CV2884337 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-23G>A | Christianson syndrome [RCV003513269] | uncertain significance | X | 135985636 | 135985636 | Human | 1 | name , alternate_id |
| 597842407 | CV3752983 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-45G>A | Christianson syndrome [RCV005086712] | uncertain significance | X | 135985614 | 135985614 | Human | 1 | name , alternate_id |
| 12845457 | CV378998 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-60T>C | SLC9A6-related disorder [RCV003970124]|not specified [RCV000439846] | likely benign | X | 135985474 | 135985474 | Human | 1 | name , trait , alternate_id |
| 12833311 | CV379923 | single nucleotide variant | NM_001379110.1(SLC9A6):c.*16C>G | not specified [RCV000418260] | likely benign | X | 136044740 | 136044740 | Human | | name |
| 12913785 | CV422415 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-35G>A | Christianson syndrome [RCV005091047]|not provided [RCV000494259] | uncertain significance | X | 135985624 | 135985624 | Human | 1 | name , alternate_id |
| 12913603 | CV422416 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-20G>A | Christianson syndrome [RCV001507028]|not provided [RCV000494024] | uncertain significance | X | 135985639 | 135985639 | Human | 1 | name , alternate_id |
| 13530014 | CV508496 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-73G>A | not specified [RCV000600530] | likely benign | X | 135985461 | 135985461 | Human | | name |
| 13829323 | CV580646 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-43C>T | Inborn genetic diseases [RCV002313615] | likely benign | X | 135985616 | 135985616 | Human | 1 | name |
| 126918290 | CV1052278 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-4G>T | Christianson syndrome [RCV001372571] | uncertain significance | X | 135985599 | 135985599 | Human | 1 | name , alternate_id |
| 127248274 | CV1108024 | single nucleotide variant | NM_001379110.1(SLC9A6):c.638-8C>T | Christianson syndrome [RCV001424896] | likely benign | X | 136002100 | 136002100 | Human | 1 | name , alternate_id |
| 150331424 | CV1169936 | duplication | NM_001379110.1(SLC9A6):c.448-6dup | Christianson syndrome [RCV001810086]|Inborn genetic diseases [RCV002334587]|not provided [RCV001536470]|not specified [RCV004594318] | benign|likely benign | X | 135998464 | 135998465 | Human | 2 | name , alternate_id |
| 150535308 | CV1302084 | single nucleotide variant | NM_001379110.1(SLC9A6):c.886-8A>G | not provided [RCV001758358] | uncertain significance | X | 136012941 | 136012941 | Human | | name |
| 150546775 | CV1313898 | single nucleotide variant | NM_001379110.1(SLC9A6):c.886-1C>A | Christianson syndrome [RCV001784991] | pathogenic | X | 136012948 | 136012948 | Human | 1 | name , alternate_id |
| 151890439 | CV1405183 | single nucleotide variant | NM_001379110.1(SLC9A6):c.370-3C>T | Christianson syndrome [RCV001888411] | uncertain significance | X | 135998105 | 135998105 | Human | 1 | name , alternate_id |
| 151794640 | CV1420596 | single nucleotide variant | NM_001379110.1(SLC9A6):c.638-1G>A | Christianson syndrome [RCV002027540] | likely pathogenic | X | 136002107 | 136002107 | Human | 1 | name , alternate_id |
| 8692938 | CV142904 | single nucleotide variant | NM_001379110.1(SLC9A6):c.744-6C>T | Christianson syndrome [RCV000473826]|not specified [RCV000147546] | benign | X | 136010436 | 136010436 | Human | 1 | name , alternate_id |
| 9688400 | CV178080 | single nucleotide variant | NM_001379110.1(SLC9A6):c.448-1G>A | Christianson syndrome [RCV001507037]|not provided [RCV000153971] | pathogenic | X | 135998481 | 135998481 | Human | 1 | name , alternate_id |
| 156295588 | CV1888542 | single nucleotide variant | NM_001379110.1(SLC9A6):c.638-2A>G | Christianson syndrome [RCV003061645] | likely pathogenic | X | 136002106 | 136002106 | Human | 1 | name , alternate_id |
| 156330433 | CV1990979 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-7C>A | Christianson syndrome [RCV002630898] | likely benign | X | 135985596 | 135985596 | Human | 1 | name , alternate_id |
| 10398319 | CV203990 | single nucleotide variant | NM_001379110.1(SLC9A6):c.524+5G>A | not provided [RCV000595933] | pathogenic|likely pathogenic | X | 135998563 | 135998563 | Human | | name |
| 156289294 | CV2050336 | single nucleotide variant | NM_001379110.1(SLC9A6):c.991+1G>A | Christianson syndrome [RCV002807277] | likely pathogenic | X | 136013055 | 136013055 | Human | 1 | name , alternate_id |
| 11658580 | CV266456 | single nucleotide variant | NM_001379110.1(SLC9A6):c.885+7T>G | Christianson syndrome [RCV002518845]|not provided [RCV000350312] | uncertain significance | X | 136010590 | 136010590 | Human | 1 | name , alternate_id |
| 11655063 | CV268937 | deletion | NM_001379110.1(SLC9A6):c.448-6del | Christianson syndrome [RCV002059160]|not specified [RCV000322967] | benign | X | 135998465 | 135998465 | Human | 1 | name , alternate_id |
| 404982852 | CV2913827 | single nucleotide variant | NM_001379110.1(SLC9A6):c.169+8C>T | Christianson syndrome [RCV003511812] | likely benign | X | 135985835 | 135985835 | Human | 1 | name , alternate_id |
| 408381437 | CV3501477 | single nucleotide variant | NM_001379110.1(SLC9A6):c.170-6T>A | not provided [RCV004727566] | likely benign | X | 135994780 | 135994780 | Human | | name |
| 596923240 | CV3530305 | single nucleotide variant | NM_001379110.1(SLC9A6):c.886-1C>T | not provided [RCV004776904] | likely pathogenic | X | 136012948 | 136012948 | Human | | name |
| 597866740 | CV3739048 | single nucleotide variant | NM_001379110.1(SLC9A6):c.992-4A>G | Christianson syndrome [RCV005068115] | benign | X | 136013345 | 136013345 | Human | 1 | name , alternate_id |
| 12841372 | CV377791 | single nucleotide variant | NM_001379110.1(SLC9A6):c.638-5A>G | Christianson syndrome [RCV001504630]|Inborn genetic diseases [RCV002311451]|not specified [RCV000432454] | likely benign|uncertain significance | X | 136002103 | 136002103 | Human | 2 | name , alternate_id |
| 13212060 | CV426407 | single nucleotide variant | NM_001379110.1(SLC9A6):c.743+1G>A | Christianson syndrome [RCV000792492]|not provided [RCV000498280] | pathogenic|likely pathogenic | X | 136002214 | 136002214 | Human | 1 | name , alternate_id |
| 13212955 | CV430653 | single nucleotide variant | NM_001379110.1(SLC9A6):c.370-8T>C | not specified [RCV000499423] | likely benign | X | 135998100 | 135998100 | Human | | name |
| 13828249 | CV580782 | deletion | NM_001379110.1(SLC9A6):c.*5_*6del | Inborn genetic diseases [RCV002312268]|not provided [RCV001675953]|not specified [RCV001816748] | benign | X | 136044729 | 136044730 | Human | 1 | name |
| 14981528 | CV613551 | single nucleotide variant | NM_001379110.1(SLC9A6):c.637+1G>A | Intellectual disability [RCV000850210] | pathogenic | X | 135998969 | 135998969 | Human | 2 | name |
| 15098698 | CV690253 | single nucleotide variant | NM_001379110.1(SLC9A6):c.744-7T>C | Christianson syndrome [RCV001474550]|not provided [RCV004584815] | likely benign | X | 136010435 | 136010435 | Human | 1 | name , alternate_id |
| 15137787 | CV695891 | single nucleotide variant | NM_001379110.1(SLC9A6):c.448-5G>T | not provided [RCV000877055] | likely benign | X | 135998477 | 135998477 | Human | | name |
| 21067962 | CV794082 | single nucleotide variant | NM_001379110.1(SLC9A6):c.524+3A>G | Christianson syndrome [RCV001202051]|not provided [RCV000993018] | likely benign|uncertain significance | X | 135998561 | 135998561 | Human | 1 | name , alternate_id |
| 21075185 | CV798170 | duplication | NM_001379110.1(SLC9A6):c.743+2dup | not provided [RCV000996021] | likely pathogenic | X | 136002214 | 136002215 | Human | | name |
| 38500020 | CV960973 | single nucleotide variant | NM_001379110.1(SLC9A6):c.992-3T>C | Christianson syndrome [RCV001245424] | uncertain significance | X | 136013346 | 136013346 | Human | 1 | name , alternate_id |
| 126755620 | CV999620 | single nucleotide variant | NM_001379110.1(SLC9A6):c.885+5C>T | Christianson syndrome [RCV001298393]|not provided [RCV001751571] | uncertain significance | X | 136010588 | 136010588 | Human | 1 | name , alternate_id |
| 8642290 | CV101274 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1306+8G>A | Christianson syndrome [RCV001522385]|Inborn genetic diseases [RCV002381402]|not provided [RCV004703227]|not specified [RCV000081394] | benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters | X | 136022705 | 136022705 | Human | 2 | name , alternate_id |
| 8642291 | CV101275 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1460+4A>G | Christianson syndrome [RCV000990952]|Inborn genetic diseases [RCV002311631]|SLC9A6-related disorder [RCV003935053]|not provided [RCV001705756]|not specified [RCV000081395] | benign|likely benign|uncertain significance | X | 136024487 | 136024487 | Human | 2 | name , trait , alternate_id |
| 126725650 | CV1018913 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+50G>C | Christianson syndrome [RCV001331523] | uncertain significance | X | 135985527 | 135985527 | Human | 1 | name , alternate_id |
| 126769918 | CV1035362 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+62C>T | Christianson syndrome [RCV001344185] | likely benign|uncertain significance | X | 135985539 | 135985539 | Human | 1 | name , alternate_id |
| 127303538 | CV1150432 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+34G>C | Christianson syndrome [RCV001499423] | likely benign | X | 135985511 | 135985511 | Human | 1 | name , alternate_id |
| 150413568 | CV1192449 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+27T>A | not provided [RCV001567241] | pathogenic|uncertain significance | X | 135985504 | 135985504 | Human | | name |
| 150485236 | CV1222664 | single nucleotide variant | NM_001379110.1(SLC9A6):c.448-71G>C | not provided [RCV001617667] | benign | X | 135998411 | 135998411 | Human | | name |
| 150507008 | CV1242353 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+16G>C | not provided [RCV001658708] | benign | X | 135985493 | 135985493 | Human | | name |
| 150482593 | CV1244301 | duplication | NM_001379110.1(SLC9A6):c.744-48dup | not provided [RCV001653148] | likely benign | X | 136010387 | 136010388 | Human | | name |
| 150543888 | CV1304250 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+21G>A | not provided [RCV001771220] | uncertain significance | X | 135985498 | 135985498 | Human | | name |
| 150544402 | CV1304737 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-5T>C | not provided [RCV001772985] | uncertain significance | X | 136030127 | 136030127 | Human | | name |
| 151234709 | CV1320430 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+29G>A | not provided [RCV001800054] | uncertain significance | X | 135985506 | 135985506 | Human | | name |
| 151353590 | CV1326764 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-43C>T | not provided [RCV001816557] | pathogenic | X | 135985560 | 135985560 | Human | | name |
| 151777189 | CV1342687 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-43C>G | Christianson syndrome [RCV001988798] | uncertain significance | X | 135985560 | 135985560 | Human | 1 | name , alternate_id |
| 151758577 | CV1342952 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-36G>A | Christianson syndrome [RCV002024102] | uncertain significance | X | 135985567 | 135985567 | Human | 1 | name , alternate_id |
| 151820631 | CV1388660 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-31C>T | Christianson syndrome [RCV001975690]|not provided [RCV003128838] | uncertain significance | X | 135985572 | 135985572 | Human | 1 | name , alternate_id |
| 8692943 | CV142909 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1582-3C>T | Christianson syndrome [RCV000540036]|not provided [RCV001729404]|not specified [RCV000194620] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 136033411 | 136033411 | Human | 1 | name , alternate_id |
| 8692945 | CV142911 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1662-4G>A | Christianson syndrome [RCV000228298]|Inborn genetic diseases [RCV002312606]|not provided [RCV000857967]|not specified [RCV000147538] | benign|likely benign|conflicting interpretations of pathogenicity | X | 136040072 | 136040072 | Human | 2 | name , alternate_id |
| 151866958 | CV1479300 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+53C>T | Christianson syndrome [RCV002035174]|not provided [RCV005057689] | uncertain significance | X | 135985530 | 135985530 | Human | 1 | name , alternate_id |
| 152136820 | CV1537853 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-32G>A | Christianson syndrome [RCV002177530] | likely benign | X | 135985571 | 135985571 | Human | 1 | name , alternate_id |
| 152029222 | CV1568188 | single nucleotide variant | NM_001379110.1(SLC9A6):c.885+10T>C | Christianson syndrome [RCV002105512] | likely benign | X | 136010593 | 136010593 | Human | 1 | name , alternate_id |
| 152167031 | CV1577342 | deletion | NM_001379110.1(SLC9A6):c.637+12del | Christianson syndrome [RCV002204603] | likely benign | X | 135998980 | 135998980 | Human | 1 | name , alternate_id |
| 152092711 | CV1603066 | single nucleotide variant | NM_001379110.1(SLC9A6):c.447+20A>C | Christianson syndrome [RCV002194502] | likely benign | X | 135998205 | 135998205 | Human | 1 | name , alternate_id |
| 152045820 | CV1614300 | single nucleotide variant | NM_001379110.1(SLC9A6):c.743+11G>C | Christianson syndrome [RCV002166259] | likely benign | X | 136002224 | 136002224 | Human | 1 | name , alternate_id |
| 152151205 | CV1631294 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1582-9T>C | Christianson syndrome [RCV002179477]|not provided [RCV004763326] | likely benign|uncertain significance | X | 136033405 | 136033405 | Human | 1 | name , alternate_id |
| 152092411 | CV1631800 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-35C>G | Christianson syndrome [RCV002132206] | benign | X | 135985568 | 135985568 | Human | 1 | name , alternate_id |
| 152134552 | CV1638411 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1081-7G>A | Christianson syndrome [RCV002083326] | likely benign | X | 136016638 | 136016638 | Human | 1 | name , alternate_id |
| 152064406 | CV1652301 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+52A>G | Christianson syndrome [RCV002090688] | likely benign | X | 135985529 | 135985529 | Human | 1 | name , alternate_id |
| 152053395 | CV1659335 | single nucleotide variant | NM_001379110.1(SLC9A6):c.886-17A>G | Christianson syndrome [RCV002189683] | likely benign | X | 136012932 | 136012932 | Human | 1 | name , alternate_id |
| 152120542 | CV1662028 | duplication | NM_001379110.1(SLC9A6):c.638-10dup | Christianson syndrome [RCV002117795] | benign | X | 136002093 | 136002094 | Human | 1 | name , alternate_id |
| 152173409 | CV1662592 | single nucleotide variant | NM_001379110.1(SLC9A6):c.991+15C>G | Christianson syndrome [RCV002144092] | likely benign | X | 136013069 | 136013069 | Human | 1 | name , alternate_id |
| 152980621 | CV1676028 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+38G>A | not provided [RCV002245097] | uncertain significance | X | 135985515 | 135985515 | Human | | name |
| 153347400 | CV1692040 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1768-9T>G | not provided [RCV002273525] | uncertain significance | X | 136044443 | 136044443 | Human | | name |
| 9683840 | CV169937 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+50G>T | Christianson syndrome [RCV000462225]|Inborn genetic diseases [RCV002312660]|not provided [RCV000224732]|not specified [RCV000147542] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 135985527 | 135985527 | Human | 2 | name , alternate_id |
| 156354684 | CV1880131 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-54G>T | Christianson syndrome [RCV003065137] | uncertain significance | X | 135985549 | 135985549 | Human | 1 | name , alternate_id |
| 10049489 | CV190502 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-28A>C | not provided [RCV000173403] | uncertain significance | X | 135985575 | 135985575 | Human | | name |
| 156438593 | CV1947202 | single nucleotide variant | NM_001379110.1(SLC9A6):c.744-12T>C | Christianson syndrome [RCV003108537] | likely benign | X | 136010430 | 136010430 | Human | 1 | name , alternate_id |
| 156348947 | CV1968171 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-6C>T | Christianson syndrome [RCV002601680] | likely benign | X | 136030126 | 136030126 | Human | 1 | name , alternate_id |
| 10398312 | CV203978 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-34A>G | not specified [RCV000189403] | likely benign|uncertain significance | X | 135985569 | 135985569 | Human | | name |
| 10398313 | CV203979 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-25C>G | Christianson syndrome [RCV001857654]|not specified [RCV000189404] | likely pathogenic|likely benign|uncertain significance | X | 135985578 | 135985578 | Human | 1 | name , alternate_id |
| 10398327 | CV203980 | microsatellite | NM_001379110.1(SLC9A6):c.-25CGG[5] | not specified [RCV000189419] | uncertain significance | X | 135985633 | 135985634 | Human | | name |
| 10398318 | CV203998 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1661+1G>A | not provided [RCV000189409] | pathogenic|likely pathogenic | X | 136033494 | 136033494 | Human | | name |
| 155921117 | CV2073710 | single nucleotide variant | NM_001379110.1(SLC9A6):c.637+16G>A | Christianson syndrome [RCV002838322] | likely benign | X | 135998984 | 135998984 | Human | 1 | name , alternate_id |
| 156028380 | CV2116676 | single nucleotide variant | NM_001379110.1(SLC9A6):c.170-11C>T | Christianson syndrome [RCV002923401] | likely benign | X | 135994775 | 135994775 | Human | 1 | name , alternate_id |
| 156041929 | CV2143498 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1767+9G>A | Christianson syndrome [RCV002999557] | likely benign | X | 136040190 | 136040190 | Human | 1 | name , alternate_id |
| 155986742 | CV2159762 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-17T>G | Christianson syndrome [RCV003034133] | likely benign | X | 135985586 | 135985586 | Human | 1 | name , alternate_id |
| 243060719 | CV2408697 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-8C>T | Christianson syndrome [RCV003136827] | uncertain significance | X | 136024322 | 136024322 | Human | 1 | name , alternate_id |
| 243049697 | CV2417057 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1306+1G>C | Christianson syndrome [RCV003151929] | uncertain significance | X | 136022698 | 136022698 | Human | 1 | name , alternate_id |
| 401796853 | CV2739828 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+41T>A | Christianson syndrome [RCV005102887]|not provided [RCV003319789] | uncertain significance | X | 135985518 | 135985518 | Human | 1 | name , alternate_id |
| 401796873 | CV2739848 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-19C>T | not provided [RCV003319809] | uncertain significance | X | 135985584 | 135985584 | Human | | name |
| 404996676 | CV2889028 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-55G>C | Christianson syndrome [RCV003513405] | uncertain significance | X | 135985548 | 135985548 | Human | 1 | name , alternate_id |
| 404998224 | CV2893965 | single nucleotide variant | NM_001379110.1(SLC9A6):c.169+15C>T | Christianson syndrome [RCV003513549] | likely benign | X | 135985842 | 135985842 | Human | 1 | name , alternate_id |
| 404980917 | CV2896414 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-56C>A | Christianson syndrome [RCV003511490] | likely benign | X | 135985547 | 135985547 | Human | 1 | name , alternate_id |
| 404982611 | CV2913623 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1662-6C>T | Christianson syndrome [RCV003511780] | likely benign | X | 136040070 | 136040070 | Human | 1 | name , alternate_id |
| 402472626 | CV2940100 | single nucleotide variant | NM_001379110.1(SLC9A6):c.169+14C>T | Christianson syndrome [RCV003624576] | likely benign | X | 135985841 | 135985841 | Human | 1 | name , alternate_id |
| 402472900 | CV2948323 | single nucleotide variant | NM_001379110.1(SLC9A6):c.447+20A>G | Christianson syndrome [RCV003624640] | likely benign | X | 135998205 | 135998205 | Human | 1 | name , alternate_id |
| 402477055 | CV2980083 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-9C>G | Christianson syndrome [RCV003625489] | likely benign | X | 136030123 | 136030123 | Human | 1 | name , alternate_id |
| 402476348 | CV2985428 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-22C>T | Christianson syndrome [RCV003625359] | uncertain significance | X | 135985581 | 135985581 | Human | 1 | name , alternate_id |
| 402478349 | CV2993814 | single nucleotide variant | NM_001379110.1(SLC9A6):c.638-18A>C | Christianson syndrome [RCV003625714] | likely benign | X | 136002090 | 136002090 | Human | 1 | name , alternate_id |
| 402481371 | CV3023641 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1195-9T>C | Christianson syndrome [RCV003626095] | likely benign | X | 136022577 | 136022577 | Human | 1 | name , alternate_id |
| 402470499 | CV3032640 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1080+7G>A | Christianson syndrome [RCV003623993] | likely benign | X | 136013444 | 136013444 | Human | 1 | name , alternate_id |
| 402471386 | CV3049535 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+39G>C | Christianson syndrome [RCV003624234] | uncertain significance | X | 135985516 | 135985516 | Human | 1 | name , alternate_id |
| 402474395 | CV3076262 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1767+4A>G | Christianson syndrome [RCV003624987] | uncertain significance | X | 136040185 | 136040185 | Human | 1 | name , alternate_id |
| 402478999 | CV3174378 | single nucleotide variant | NM_001379110.1(SLC9A6):c.169+18T>C | Christianson syndrome [RCV003875725] | likely benign | X | 135985845 | 135985845 | Human | 1 | name , alternate_id |
| 407573651 | CV3498018 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+38G>T | not provided [RCV004702004] | uncertain significance | X | 135985515 | 135985515 | Human | | name |
| 596926201 | CV3530730 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+48G>A | not provided [RCV004778315] | uncertain significance | X | 135985525 | 135985525 | Human | | name |
| 597922013 | CV3738451 | single nucleotide variant | NM_001379110.1(SLC9A6):c.744-18G>A | Christianson syndrome [RCV005074858] | likely benign | X | 136010424 | 136010424 | Human | 1 | name , alternate_id |
| 597942033 | CV3769322 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-9C>T | Christianson syndrome [RCV005118817] | likely benign | X | 136024321 | 136024321 | Human | 1 | name , alternate_id |
| 597944560 | CV3776624 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1582-6C>A | Christianson syndrome [RCV005119480] | likely benign | X | 136033408 | 136033408 | Human | 1 | name , alternate_id |
| 12849673 | CV378886 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+27T>G | Christianson syndrome [RCV001507050]|Inborn genetic diseases [RCV002519559]|not provided [RCV000433846] | pathogenic|likely pathogenic|uncertain significance | X | 135985504 | 135985504 | Human | 2 | name , alternate_id |
| 12838902 | CV379004 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1195-4T>G | not specified [RCV000427823] | likely benign | X | 136022582 | 136022582 | Human | | name |
| 597955321 | CV3809447 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1081-3C>T | Christianson syndrome [RCV005162172] | uncertain significance | X | 136016642 | 136016642 | Human | 1 | name , alternate_id |
| 597916643 | CV3811007 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+54C>T | Christianson syndrome [RCV005155042] | uncertain significance | X | 135985531 | 135985531 | Human | 1 | name , alternate_id |
| 597970561 | CV3832505 | single nucleotide variant | NM_001379110.1(SLC9A6):c.885+14A>G | Christianson syndrome [RCV005166584] | likely benign | X | 136010597 | 136010597 | Human | 1 | name , alternate_id |
| 597899610 | CV3835220 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+59C>T | Christianson syndrome [RCV005180940] | uncertain significance | X | 135985536 | 135985536 | Human | 1 | name , alternate_id |
| 598125069 | CV3883794 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-37C>G | not provided [RCV005236149] | uncertain significance | X | 135985566 | 135985566 | Human | | name |
| 616934163 | CV4012141 | duplication | NM_001379110.1(SLC9A6):c.-57+21dup | not specified [RCV005409175] | uncertain significance | X | 135985492 | 135985493 | Human | | name |
| 617150728 | CV4019073 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+57T>A | not provided [RCV005423481] | uncertain significance | X | 135985534 | 135985534 | Human | | name |
| 12889991 | CV404453 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1081-8C>T | Christianson syndrome [RCV000473803]|not provided [RCV003884564] | likely benign | X | 136016637 | 136016637 | Human | 1 | name , alternate_id |
| 12900006 | CV411130 | deletion | NM_001379110.1(SLC9A6):c.-57+21del | Christianson syndrome [RCV003989537]|not provided [RCV000481437]|not specified [RCV001844174] | benign|likely benign|uncertain significance | X | 135985493 | 135985493 | Human | 1 | name , alternate_id |
| 12893570 | CV411131 | microsatellite | NM_006359.2(SLC9A6):c.509_510delGA | not provided [RCV000479415] | pathogenic | X | 135998480 | 135998481 | Human | | name |
| 13214682 | CV430654 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1768-6A>G | Christianson syndrome [RCV001461996]|not specified [RCV000501576] | likely benign|uncertain significance | X | 136044446 | 136044446 | Human | 1 | name , alternate_id |
| 13486852 | CV446502 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+43G>C | Christianson syndrome [RCV002528239]|not provided [RCV000523044] | uncertain significance | X | 135985520 | 135985520 | Human | 1 | name , alternate_id |
| 13477282 | CV446503 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-40G>C | not provided [RCV000520357] | uncertain significance | X | 135985563 | 135985563 | Human | | name |
| 13538874 | CV507845 | single nucleotide variant | NM_001379110.1(SLC9A6):c.169+14C>G | Christianson syndrome [RCV002063108]|not specified [RCV000612479] | likely benign | X | 135985841 | 135985841 | Human | 1 | name , alternate_id |
| 13527490 | CV508500 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+15C>T | not specified [RCV000605198] | likely benign | X | 135985492 | 135985492 | Human | | name |
| 13535471 | CV508502 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+37C>G | not specified [RCV000602365] | likely benign | X | 135985514 | 135985514 | Human | | name |
| 13538707 | CV508503 | single nucleotide variant | NM_001379110.1(SLC9A6):c.170-16T>A | Christianson syndrome [RCV003767476]|not specified [RCV000612225] | benign|likely benign | X | 135994770 | 135994770 | Human | 1 | name , alternate_id |
| 13529861 | CV508507 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1460+6T>C | Christianson syndrome [RCV000981713]|not provided [RCV001719114] | benign|likely benign | X | 136024489 | 136024489 | Human | 1 | name , alternate_id |
| 13818932 | CV572224 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+33G>T | Christianson syndrome [RCV000694032] | uncertain significance | X | 135985510 | 135985510 | Human | 1 | name , alternate_id |
| 14397400 | CV613225 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+30C>T | Christianson syndrome [RCV001855958]|not provided [RCV000762672] | uncertain significance | X | 135985507 | 135985507 | Human | 1 | name , alternate_id |
| 14981586 | CV613522 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-1G>A | Christianson syndrome [RCV000845288] | pathogenic | X | 136024329 | 136024329 | Human | 1 | name , alternate_id |
| 14722283 | CV649712 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+32C>T | Christianson syndrome [RCV000813836]|SLC9A6-related disorder [RCV003413636] | uncertain significance | X | 135985509 | 135985509 | Human | 1 | name , trait , alternate_id |
| 26919297 | CV849665 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-57+26A>G | Christianson syndrome [RCV001058825]|Neurodevelopmental disorder [RCV001374987]|not provided [RCV005093349] | uncertain significance | X | 135985503 | 135985503 | Human | 2 | name , alternate_id |
| 38488140 | CV939442 | single nucleotide variant | NM_001379110.1(SLC9A6):c.-56-21C>A | Christianson syndrome [RCV001209614]|SLC9A6-related disorder [RCV003398938] | uncertain significance | X | 135985582 | 135985582 | Human | 1 | name , trait , alternate_id |
| 126734213 | CV1022140 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1080+17A>G | Christianson syndrome [RCV001334542] | conflicting interpretations of pathogenicity|uncertain significance | X | 136013454 | 136013454 | Human | 1 | name , alternate_id |
| 150407612 | CV1192450 | single nucleotide variant | NM_001379110.1(SLC9A6):c.885+179G>A | not provided [RCV001565067] | likely benign | X | 136010762 | 136010762 | Human | | name |
| 150414919 | CV1199423 | single nucleotide variant | NM_001379110.1(SLC9A6):c.170-197A>G | not provided [RCV001575172] | likely benign | X | 135994589 | 135994589 | Human | | name |
| 150468376 | CV1207406 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-12G>C | Christianson syndrome [RCV002592487]|not provided [RCV001588095] | benign|likely benign | X | 136024318 | 136024318 | Human | 1 | name , alternate_id |
| 150470270 | CV1209287 | duplication | NM_001379110.1(SLC9A6):c.637+206dup | not provided [RCV001588398] | likely benign | X | 135999161 | 135999162 | Human | | name |
| 150436432 | CV1249695 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-63T>C | not provided [RCV001665609] | benign | X | 136030069 | 136030069 | Human | | name |
| 150479059 | CV1258193 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1195-63G>A | not provided [RCV001685609] | benign | X | 136022523 | 136022523 | Human | | name |
| 150483704 | CV1263034 | duplication | NM_001379110.1(SLC9A6):c.744-208dup | not provided [RCV001686434] | benign | X | 136010224 | 136010225 | Human | | name |
| 150495877 | CV1272741 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-11T>C | Christianson syndrome [RCV002073243]|not provided [RCV001688664] | likely benign | X | 136030121 | 136030121 | Human | 1 | name , alternate_id |
| 150490171 | CV1279510 | single nucleotide variant | NM_001379110.1(SLC9A6):c.886-297T>C | not provided [RCV001716422] | benign | X | 136012652 | 136012652 | Human | | name |
| 150491179 | CV1280204 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1080+31C>A | not provided [RCV001716599] | benign | X | 136013468 | 136013468 | Human | | name |
| 8692941 | CV142907 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1460+10A>G | Christianson syndrome [RCV000463980]|not specified [RCV000128156] | benign | X | 136024493 | 136024493 | Human | 1 | name , alternate_id |
| 8692942 | CV142908 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1581+11G>A | Christianson syndrome [RCV002055811]|not specified [RCV000128157] | benign | X | 136030173 | 136030173 | Human | 1 | name , alternate_id |
| 152098847 | CV1542489 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1661+18A>G | Christianson syndrome [RCV002195275] | likely benign | X | 136033511 | 136033511 | Human | 1 | name , alternate_id |
| 152103879 | CV1544604 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1080+10A>G | Christianson syndrome [RCV002115697] | benign | X | 136013447 | 136013447 | Human | 1 | name , alternate_id |
| 152167674 | CV1547754 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1081-18T>C | Christianson syndrome [RCV002160925] | likely benign | X | 136016627 | 136016627 | Human | 1 | name , alternate_id |
| 152145277 | CV1576691 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-17T>C | Christianson syndrome [RCV002101366] | likely benign | X | 136024313 | 136024313 | Human | 1 | name , alternate_id |
| 152175263 | CV1602150 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-19C>T | Christianson syndrome [RCV002163445] | likely benign | X | 136024311 | 136024311 | Human | 1 | name , alternate_id |
| 152109996 | CV1603311 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1581+15T>C | Christianson syndrome [RCV002096719] | likely benign | X | 136030177 | 136030177 | Human | 1 | name , alternate_id |
| 152072587 | CV1609517 | deletion | NM_001379110.1(SLC9A6):c.1661+28del | Christianson syndrome [RCV002129799] | benign | X | 136033511 | 136033511 | Human | 1 | name , alternate_id |
| 152033418 | CV1610355 | duplication | NM_001379110.1(SLC9A6):c.1661+28dup | Christianson syndrome [RCV002124929] | benign | X | 136033510 | 136033511 | Human | 1 | name , alternate_id |
| 152072072 | CV1643668 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-18T>G | Christianson syndrome [RCV002111591] | likely benign | X | 136030114 | 136030114 | Human | 1 | name , alternate_id |
| 156129147 | CV1921551 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-20C>T | Christianson syndrome [RCV002623244] | likely benign | X | 136024310 | 136024310 | Human | 1 | name , alternate_id |
| 156008331 | CV2046313 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1767+12T>G | Christianson syndrome [RCV002756541] | likely benign | X | 136040193 | 136040193 | Human | 1 | name , alternate_id |
| 156308888 | CV2076137 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1306+16C>G | Christianson syndrome [RCV002857546] | likely benign | X | 136022713 | 136022713 | Human | 1 | name , alternate_id |
| 156207264 | CV2103111 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-19C>T | Christianson syndrome [RCV002918019] | likely benign | X | 136030113 | 136030113 | Human | 1 | name , alternate_id |
| 404991422 | CV2862764 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1195-13T>C | Christianson syndrome [RCV003512858] | likely benign | X | 136022573 | 136022573 | Human | 1 | name , alternate_id |
| 402472490 | CV2943493 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1768-13T>A | Christianson syndrome [RCV003624546] | likely benign | X | 136044439 | 136044439 | Human | 1 | name , alternate_id |
| 402473337 | CV2954372 | deletion | NM_001379110.1(SLC9A6):c.1581+16del | Christianson syndrome [RCV003624748] | benign | X | 136030174 | 136030174 | Human | 1 | name , alternate_id |
| 402470612 | CV3033107 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1460+20C>T | Christianson syndrome [RCV003624022] | likely benign | X | 136024503 | 136024503 | Human | 1 | name , alternate_id |
| 402471260 | CV3055472 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-13T>C | Christianson syndrome [RCV003624200] | benign | X | 136024317 | 136024317 | Human | 1 | name , alternate_id |
| 12841133 | CV378896 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1460+14A>G | not specified [RCV000432029] | likely benign | X | 136024497 | 136024497 | Human | | name |
| 12846733 | CV379922 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1581+10C>T | not specified [RCV000442196] | likely benign | X | 136030172 | 136030172 | Human | | name |
| 597854932 | CV3821707 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1194+15G>A | Christianson syndrome [RCV005174185] | likely benign | X | 136016773 | 136016773 | Human | 1 | name , alternate_id |
| 597947544 | CV3841898 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1194+16T>C | Christianson syndrome [RCV005189332] | likely benign | X | 136016774 | 136016774 | Human | 1 | name , alternate_id |
| 597863277 | CV3860681 | duplication | NM_001379110.1(SLC9A6):c.1768-17dup | Christianson syndrome [RCV005196209] | likely benign | X | 136044434 | 136044435 | Human | 1 | name , alternate_id |
| 14733402 | CV671012 | single nucleotide variant | NM_001379110.1(SLC9A6):c.170-125C>T | not provided [RCV000837078] | likely benign | X | 135994661 | 135994661 | Human | | name |
| 14709515 | CV671013 | deletion | NM_001379110.1(SLC9A6):c.744-208del | not provided [RCV000837221] | likely benign | X | 136010225 | 136010225 | Human | | name |
| 14727953 | CV671014 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1551-98T>G | not provided [RCV000834562] | likely benign | X | 136030034 | 136030034 | Human | | name |
| 14742364 | CV671018 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1581+17G>A | Christianson syndrome [RCV002536130]|not provided [RCV000841339] | likely benign | X | 136030179 | 136030179 | Human | 1 | name , alternate_id |
| 21073815 | CV792125 | duplication | NM_001379110.1(SLC9A6):c.1080+80dup | Christianson syndrome [RCV000990951]|not provided [RCV001559949] | benign|likely benign | X | 136013505 | 136013506 | Human | 1 | name , alternate_id |
| 40814240 | CV967023 | deletion | NM_001379110.1(SLC9A6):c.1582-35del | Intellectual disability [RCV001257721] | uncertain significance | X | 136033379 | 136033379 | Human | 2 | name |
| 150414725 | CV1192451 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1307-298A>G | not provided [RCV001567667] | likely benign | X | 136024032 | 136024032 | Human | | name |
| 150448709 | CV1202074 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1768-219A>G | not provided [RCV001584944] | likely benign | X | 136044233 | 136044233 | Human | | name |
| 14732205 | CV670729 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1768-167T>G | not provided [RCV000836475] | benign | X | 136044285 | 136044285 | Human | | name |
| 155796450 | CV1860035 | deletion | NM_001379110.1(SLC9A6):c.448-9_459del | Christianson syndrome [RCV002466304] | likely pathogenic | X | 135998466 | 135998486 | Human | 1 | name , alternate_id |
| 10047967 | CV191806 | indel | NM_001379110.1(SLC9A6):c.*5_*8delinsTT | Christianson syndrome [RCV004584201]|not provided [RCV000993016]|not specified [RCV000175063] | benign|conflicting interpretations of pathogenicity|uncertain significance | X | 136044729 | 136044732 | Human | | name , alternate_id |
| 150423090 | CV1182058 | deletion | NM_001379110.1(SLC9A6):c.743+3_743+6del | Christianson syndrome [RCV002032599]|not provided [RCV001553534] | pathogenic|likely pathogenic | X | 136002214 | 136002217 | Human | 1 | name , alternate_id |
| 150506995 | CV1242350 | duplication | NM_001379110.1(SLC9A6):c.448-7_448-6dup | Christianson syndrome [RCV002073031]|not provided [RCV001658705] | benign | X | 135998464 | 135998465 | Human | 1 | name , alternate_id |
| 10398325 | CV203985 | deletion | NM_001379110.1(SLC9A6):c.370-9_370-5del | Christianson syndrome [RCV000240849]|Inborn genetic diseases [RCV002327019]|Intellectual disability [RCV000224024]|not specified [RCV000189417] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | X | 135998095 | 135998099 | Human | 4 | name , alternate_id |
| 127253957 | CV1108022 | insertion | NM_001379110.1(SLC9A6):c.448-8_448-7insG | Christianson syndrome [RCV001426204] | likely benign | X | 135998474 | 135998475 | Human | 1 | name , alternate_id |
| 127323069 | CV1150434 | insertion | NM_001379110.1(SLC9A6):c.448-9_448-8insC | Christianson syndrome [RCV001485146] | likely benign | X | 135998473 | 135998474 | Human | 1 | name , alternate_id |
| 152038771 | CV1524233 | deletion | NM_001379110.1(SLC9A6):c.524+8_524+12del | Christianson syndrome [RCV002125767] | likely benign | X | 135998564 | 135998568 | Human | 1 | name , alternate_id |
| 402475199 | CV2968411 | single nucleotide variant | NM_001379110.1(SLC9A6):c.15C>A (p.Ile5=) | Christianson syndrome [RCV003625142] | likely benign | X | 135985673 | 135985673 | Human | 1 | name , alternate_id |
| 597960176 | CV3811474 | single nucleotide variant | NM_001379110.1(SLC9A6):c.21C>T (p.Ser7=) | Christianson syndrome [RCV005163321] | likely benign | X | 135985679 | 135985679 | Human | 1 | name , alternate_id |
| 127282595 | CV1086280 | single nucleotide variant | NM_001379110.1(SLC9A6):c.66G>A (p.Leu22=) | Christianson syndrome [RCV001411205] | likely benign | X | 135985724 | 135985724 | Human | 1 | name , alternate_id |
| 127312533 | CV1150433 | single nucleotide variant | NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=) | Christianson syndrome [RCV001481702]|not provided [RCV001762696] | likely benign|uncertain significance | X | 135985739 | 135985739 | Human | 1 | name , alternate_id |
| 150543701 | CV1298429 | deletion | NM_001379110.1(SLC9A6):c.525-13_525-10del | not provided [RCV001770628] | uncertain significance | X | 135998842 | 135998845 | Human | | name |
| 152138696 | CV1549571 | single nucleotide variant | NM_001379110.1(SLC9A6):c.90C>T (p.Thr30=) | Christianson syndrome [RCV002156477] | likely benign | X | 135985748 | 135985748 | Human | 1 | name , alternate_id |
| 152172470 | CV1660299 | single nucleotide variant | NM_001379110.1(SLC9A6):c.75C>T (p.Phe25=) | Christianson syndrome [RCV002162468] | likely benign | X | 135985733 | 135985733 | Human | 1 | name , alternate_id |
| 9683838 | CV169938 | deletion | NM_001379110.1(SLC9A6):c.27del (p.Lys9fs) | Christianson syndrome [RCV000147540] | pathogenic | X | 135985685 | 135985685 | Human | 1 | name , alternate_id |
| 155695478 | CV1844636 | single nucleotide variant | NM_001379110.1(SLC9A6):c.69C>T (p.Leu23=) | Inborn genetic diseases [RCV002443685] | likely benign | X | 135985727 | 135985727 | Human | 1 | name |
| 156405857 | CV2004493 | single nucleotide variant | NM_001379110.1(SLC9A6):c.78C>T (p.Ile26=) | Christianson syndrome [RCV002658414] | likely benign | X | 135985736 | 135985736 | Human | 1 | name , alternate_id |
| 402472596 | CV2943646 | single nucleotide variant | NM_001379110.1(SLC9A6):c.54C>T (p.Asp18=) | Christianson syndrome [RCV003624569] | likely benign | X | 135985712 | 135985712 | Human | 1 | name , alternate_id |
| 12845585 | CV378889 | single nucleotide variant | NM_001379110.1(SLC9A6):c.42C>T (p.Ser14=) | Christianson syndrome [RCV003512045]|not specified [RCV000440082] | likely benign | X | 135985700 | 135985700 | Human | 1 | name , alternate_id |
| 12846920 | CV378892 | single nucleotide variant | NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=) | Christianson syndrome [RCV001521806]|not provided [RCV001703570] | benign|likely benign | X | 135985715 | 135985715 | Human | 1 | name , alternate_id |
| 597966175 | CV3793928 | microsatellite | NM_001379110.1(SLC9A6):c.743+11_743+14del | Christianson syndrome [RCV005140310] | likely benign | X | 136002219 | 136002222 | Human | | name , alternate_id |
| 127234862 | CV1086281 | single nucleotide variant | NM_001379110.1(SLC9A6):c.168T>C (p.Tyr56=) | Christianson syndrome [RCV001391706] | likely benign | X | 135985826 | 135985826 | Human | 1 | name , alternate_id |
| 151875611 | CV1405821 | single nucleotide variant | NM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln) | Christianson syndrome [RCV001981862] | uncertain significance | X | 135985680 | 135985680 | Human | 1 | name , alternate_id |
| 152105364 | CV1634098 | single nucleotide variant | NM_001379110.1(SLC9A6):c.261A>G (p.Pro87=) | Christianson syndrome [RCV002196075] | likely benign | X | 135994877 | 135994877 | Human | 1 | name , alternate_id |
| 402471877 | CV3069056 | single nucleotide variant | NM_001379110.1(SLC9A6):c.159T>A (p.Ala53=) | Christianson syndrome [RCV003624376] | likely benign | X | 135985817 | 135985817 | Human | 1 | name , alternate_id |
| 597960307 | CV3756176 | single nucleotide variant | NM_001379110.1(SLC9A6):c.153C>T (p.Gly51=) | Christianson syndrome [RCV005081493] | likely benign | X | 135985811 | 135985811 | Human | 1 | name , alternate_id |
| 12841987 | CV377787 | single nucleotide variant | NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met) | Christianson syndrome [RCV001088949]|not provided [RCV000433575] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 135985673 | 135985673 | Human | 1 | name , alternate_id |
| 12835981 | CV377790 | single nucleotide variant | NM_001379110.1(SLC9A6):c.144C>T (p.His48=) | Christianson syndrome [RCV005090711]|not provided [RCV001718876] | likely benign | X | 135985802 | 135985802 | Human | 1 | name , alternate_id |
| 12886909 | CV404086 | single nucleotide variant | NM_001379110.1(SLC9A6):c.228T>C (p.Asn76=) | Christianson syndrome [RCV001474069]|Inborn genetic diseases [RCV002356745]|not provided [RCV000468100] | likely benign | X | 135994844 | 135994844 | Human | 2 | name , alternate_id |
| 13832642 | CV590095 | deletion | NM_001379110.1(SLC9A6):c.1662-19_1662-3del | not provided [RCV005251191] | likely pathogenic | X | 136040055 | 136040071 | Human | | name |
| 15161525 | CV689343 | single nucleotide variant | NM_001379110.1(SLC9A6):c.120G>A (p.Lys40=) | Christianson syndrome [RCV002539034] | likely benign | X | 135985778 | 135985778 | Human | 1 | name , alternate_id |
| 15133606 | CV758301 | single nucleotide variant | NM_001379110.1(SLC9A6):c.213G>A (p.Pro71=) | Christianson syndrome [RCV000920546] | likely benign | X | 135994829 | 135994829 | Human | 1 | name , alternate_id |
| 38489718 | CV951617 | single nucleotide variant | NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu) | Christianson syndrome [RCV001238532] | uncertain significance | X | 135985671 | 135985671 | Human | 1 | name , alternate_id |
| 126912744 | CV1052281 | single nucleotide variant | NM_001379110.1(SLC9A6):c.525G>A (p.Gly175=) | Christianson syndrome [RCV001369847] | likely benign|uncertain significance | X | 135998856 | 135998856 | Human | 1 | name , alternate_id |
| 127279221 | CV1086282 | single nucleotide variant | NM_001379110.1(SLC9A6):c.504A>G (p.Ala168=) | Christianson syndrome [RCV001408950] | likely benign | X | 135998538 | 135998538 | Human | 1 | name , alternate_id |
| 127248863 | CV1086283 | single nucleotide variant | NM_001379110.1(SLC9A6):c.594A>G (p.Thr198=) | Christianson syndrome [RCV001417226] | likely benign | X | 135998925 | 135998925 | Human | 1 | name , alternate_id |
| 127274469 | CV1086284 | single nucleotide variant | NM_001379110.1(SLC9A6):c.756A>G (p.Ala252=) | Christianson syndrome [RCV001406304] | likely benign | X | 136010454 | 136010454 | Human | 1 | name , alternate_id |
| 127251816 | CV1108021 | single nucleotide variant | NM_001379110.1(SLC9A6):c.372T>A (p.Val124=) | Christianson syndrome [RCV001436629] | likely benign | X | 135998110 | 135998110 | Human | 1 | name , alternate_id |
| 127270460 | CV1108023 | single nucleotide variant | NM_001379110.1(SLC9A6):c.471G>A (p.Gly157=) | Christianson syndrome [RCV001430645] | likely benign | X | 135998505 | 135998505 | Human | 1 | name , alternate_id |
| 127240823 | CV1108025 | single nucleotide variant | NM_001379110.1(SLC9A6):c.717T>C (p.Asn239=) | Christianson syndrome [RCV001423432] | likely benign | X | 136002187 | 136002187 | Human | 1 | name , alternate_id |
| 127313552 | CV1129401 | single nucleotide variant | NM_001379110.1(SLC9A6):c.630T>C (p.Thr210=) | Christianson syndrome [RCV001464704] | likely benign | X | 135998961 | 135998961 | Human | 1 | name , alternate_id |
| 127292925 | CV1159369 | single nucleotide variant | NM_001379110.1(SLC9A6):c.564G>A (p.Thr188=) | Christianson syndrome [RCV001511059]|not provided [RCV001581164] | benign|likely benign|uncertain significance | X | 135998895 | 135998895 | Human | 1 | name , alternate_id |
| 150496699 | CV1283394 | duplication | NM_001379110.1(SLC9A6):c.744-209_744-208dup | not provided [RCV001717720] | benign | X | 136010224 | 136010225 | Human | | name |
| 150553085 | CV1298106 | single nucleotide variant | NM_001379110.1(SLC9A6):c.76A>G (p.Ile26Val) | not provided [RCV001768719] | uncertain significance | X | 135985734 | 135985734 | Human | | name |
| 8692937 | CV142903 | single nucleotide variant | NM_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 benign | X | 135998508 | 135998508 | Human | 2 | name , trait , alternate_id |
| 8692939 | CV142905 | single nucleotide variant | NM_001379110.1(SLC9A6):c.801G>A (p.Ala267=) | Christianson syndrome [RCV002055810]|not specified [RCV000128152] | benign|likely benign | X | 136010499 | 136010499 | Human | 1 | name , alternate_id |
| 152111726 | CV1537216 | single nucleotide variant | NM_001379110.1(SLC9A6):c.471G>T (p.Gly157=) | Christianson syndrome [RCV002215587] | likely benign | X | 135998505 | 135998505 | Human | 1 | name , alternate_id |
| 152124097 | CV1634198 | single nucleotide variant | NM_001379110.1(SLC9A6):c.933C>A (p.Gly311=) | Christianson syndrome [RCV002217167] | likely benign | X | 136012996 | 136012996 | Human | 1 | name , alternate_id |
| 155267301 | CV1699533 | single nucleotide variant | NM_001379110.1(SLC9A6):c.55A>G (p.Ser19Gly) | not provided [RCV002283328] | likely pathogenic | X | 135985713 | 135985713 | Human | | name |
| 155711982 | CV1824212 | single nucleotide variant | NM_001379110.1(SLC9A6):c.786C>T (p.Thr262=) | Inborn genetic diseases [RCV002447583] | likely benign | X | 136010484 | 136010484 | Human | 1 | name |
| 156310475 | CV1895336 | single nucleotide variant | NM_001379110.1(SLC9A6):c.660C>T (p.His220=) | Christianson syndrome [RCV003088415] | likely benign | X | 136002130 | 136002130 | Human | 1 | name , alternate_id |
| 155912131 | CV1935297 | single nucleotide variant | NM_001379110.1(SLC9A6):c.67C>G (p.Leu23Val) | Christianson syndrome [RCV002510626] | uncertain significance | X | 135985725 | 135985725 | Human | 1 | name , alternate_id |
| 155913201 | CV2025873 | single nucleotide variant | NM_001379110.1(SLC9A6):c.609T>C (p.Phe203=) | Christianson syndrome [RCV002750286] | likely benign | X | 135998940 | 135998940 | Human | 1 | name , alternate_id |
| 10398331 | CV203982 | single nucleotide variant | NM_001379110.1(SLC9A6):c.64C>G (p.Leu22Val) | Christianson syndrome [RCV005192487] | likely pathogenic|uncertain significance | X | 135985722 | 135985722 | Human | 1 | name , alternate_id |
| 10398328 | CV203983 | duplication | NM_001379110.1(SLC9A6):c.190dup (p.Leu64fs) | not provided [RCV000189420] | pathogenic | X | 135994805 | 135994806 | Human | | name |
| 10398320 | CV203994 | single nucleotide variant | NM_006359.2(SLC9A6):c.1076G>A (p.Gly359Asp) | not provided [RCV000189411] | likely pathogenic | X | 136013373 | 136013373 | Human | | name |
| 10398322 | CV203999 | single nucleotide variant | NM_006359.2(SLC9A6):c.1649T>C (p.Leu550Pro) | not provided [RCV000189414] | likely pathogenic | X | 136040093 | 136040093 | Human | | name |
| 156012244 | CV2076136 | deletion | NM_001379110.1(SLC9A6):c.1306+15_1306+18del | Christianson syndrome [RCV002866167] | likely benign | X | 136022709 | 136022712 | Human | 1 | name , alternate_id |
| 155997191 | CV2168777 | single nucleotide variant | NM_001379110.1(SLC9A6):c.492T>C (p.Phe164=) | Christianson syndrome [RCV003017107] | likely benign | X | 135998526 | 135998526 | Human | 1 | name , alternate_id |
| 156022599 | CV2184671 | single nucleotide variant | NM_001379110.1(SLC9A6):c.657C>T (p.Phe219=) | Christianson syndrome [RCV003035804] | likely benign | X | 136002127 | 136002127 | Human | 1 | name , alternate_id |
| 404988808 | CV2928659 | single nucleotide variant | NM_001379110.1(SLC9A6):c.663G>A (p.Glu221=) | Christianson syndrome [RCV003512590] | likely benign | X | 136002133 | 136002133 | Human | 1 | name , alternate_id |
| 402473147 | CV2949595 | single nucleotide variant | NM_001379110.1(SLC9A6):c.450A>G (p.Arg150=) | Christianson syndrome [RCV003624694] | likely benign | X | 135998484 | 135998484 | Human | 1 | name , alternate_id |
| 402475478 | CV2965719 | single nucleotide variant | NM_001379110.1(SLC9A6):c.819G>A (p.Gly273=) | Christianson syndrome [RCV003625194] | likely benign | X | 136010517 | 136010517 | Human | 1 | name , alternate_id |
| 402476570 | CV2989055 | single nucleotide variant | NM_001379110.1(SLC9A6):c.601C>T (p.Leu201=) | Christianson syndrome [RCV003625401] | likely benign | X | 135998932 | 135998932 | Human | 1 | name , alternate_id |
| 402479963 | CV3017532 | single nucleotide variant | NM_001379110.1(SLC9A6):c.936G>C (p.Leu312=) | Christianson syndrome [RCV003625947] | likely benign | X | 136012999 | 136012999 | Human | 1 | name , alternate_id |
| 402470536 | CV3041364 | single nucleotide variant | NM_001379110.1(SLC9A6):c.828T>C (p.Leu276=) | Christianson syndrome [RCV003624002] | likely benign | X | 136010526 | 136010526 | Human | 1 | name , alternate_id |
| 402471650 | CV3060441 | single nucleotide variant | NM_001379110.1(SLC9A6):c.459T>C (p.Phe153=) | Christianson syndrome [RCV003624298] | likely benign | X | 135998493 | 135998493 | Human | 1 | name , alternate_id |
| 405263850 | CV3189809 | single nucleotide variant | NM_001379110.1(SLC9A6):c.403T>C (p.Leu135=) | SLC9A6-related disorder [RCV003896857] | likely benign | X | 135998141 | 135998141 | Human | | name , trait , alternate_id |
| 405697534 | CV3226867 | single nucleotide variant | NM_001379110.1(SLC9A6):c.837C>T (p.Phe279=) | not provided [RCV003993261] | likely benign | X | 136010535 | 136010535 | Human | | name |
| 405723633 | CV3381256 | deletion | NM_001379110.1(SLC9A6):c.284del (p.Ser95fs) | Inborn genetic diseases [RCV004524177] | uncertain significance | X | 135994900 | 135994900 | Human | 1 | name |
| 407457782 | CV3416219 | single nucleotide variant | NM_001379110.1(SLC9A6):c.321T>C (p.Ile107=) | not provided [RCV004599097] | likely benign | X | 135994937 | 135994937 | Human | | name |
| 408374947 | CV3508817 | single nucleotide variant | NM_001379110.1(SLC9A6):c.58G>A (p.Ala20Thr) | SLC9A6-related disorder [RCV004747647] | uncertain significance | X | 135985716 | 135985716 | Human | | name , trait , alternate_id |
| 597934845 | CV3793657 | single nucleotide variant | NM_001379110.1(SLC9A6):c.736C>T (p.Leu246=) | Christianson syndrome [RCV005132313] | likely benign | X | 136002206 | 136002206 | Human | 1 | name , alternate_id |
| 597972114 | CV3794144 | single nucleotide variant | NM_001379110.1(SLC9A6):c.29A>G (p.Gln10Arg) | Christianson syndrome [RCV005142510] | uncertain significance | X | 135985687 | 135985687 | Human | 1 | name , alternate_id |
| 12837687 | CV379921 | single nucleotide variant | NM_001379110.1(SLC9A6):c.900C>T (p.Thr300=) | not specified [RCV000425588] | likely benign | X | 136012963 | 136012963 | Human | | name |
| 597915782 | CV3845653 | single nucleotide variant | NM_001379110.1(SLC9A6):c.79C>G (p.Leu27Val) | Christianson syndrome [RCV005183448] | uncertain significance | X | 135985737 | 135985737 | Human | 1 | name , alternate_id |
| 12886603 | CV404448 | single nucleotide variant | NM_001379110.1(SLC9A6):c.603A>G (p.Leu201=) | Christianson syndrome [RCV001453308] | likely benign | X | 135998934 | 135998934 | Human | 1 | name , alternate_id |
| 12887135 | CV404491 | single nucleotide variant | NM_001379110.1(SLC9A6):c.960C>G (p.Thr320=) | Christianson syndrome [RCV001493415] | likely benign | X | 136013023 | 136013023 | Human | 1 | name , alternate_id |
| 13467255 | CV472065 | single nucleotide variant | NM_001379110.1(SLC9A6):c.516C>T (p.Phe172=) | Christianson syndrome [RCV000554011]|not specified [RCV000609426] | likely benign|uncertain significance | X | 135998550 | 135998550 | Human | 1 | name , alternate_id |
| 13535509 | CV507738 | single nucleotide variant | NM_001379110.1(SLC9A6):c.852A>T (p.Ala284=) | Christianson syndrome [RCV001482709]|Inborn genetic diseases [RCV002377283]|not provided [RCV000867618] | likely benign | X | 136010550 | 136010550 | Human | 2 | name , alternate_id |
| 14720555 | CV649715 | single nucleotide variant | NM_001379110.1(SLC9A6):c.483A>G (p.Ala161=) | Christianson syndrome [RCV000813072]|SLC9A6-related disorder [RCV003892738] | likely benign|uncertain significance | X | 135998517 | 135998517 | Human | 1 | name , trait , alternate_id |
| 15101746 | CV689344 | single nucleotide variant | NM_001379110.1(SLC9A6):c.486C>T (p.Tyr162=) | Christianson syndrome [RCV003624433] | benign | X | 135998520 | 135998520 | Human | 1 | name , alternate_id |
| 15178138 | CV773769 | single nucleotide variant | NM_001379110.1(SLC9A6):c.549G>A (p.Thr183=) | Christianson syndrome [RCV000929323]|Inborn genetic diseases [RCV002354783] | likely benign | X | 135998880 | 135998880 | Human | 2 | name , alternate_id |
| 8642292 | CV101276 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1857T>C (p.Thr619=) | Christianson syndrome [RCV003105788]|not specified [RCV000081396] | likely benign|uncertain significance | X | 136044541 | 136044541 | Human | 1 | name , alternate_id |
| 126920441 | CV1052279 | single nucleotide variant | NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu) | Christianson syndrome [RCV001362877] | uncertain significance | X | 135994828 | 135994828 | Human | 1 | name , alternate_id |
| 126915239 | CV1052280 | single nucleotide variant | NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn) | Christianson syndrome [RCV001370795]|not provided [RCV004783964] | uncertain significance | X | 135994855 | 135994855 | Human | 1 | name , alternate_id |
| 127251970 | CV1108026 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1734C>T (p.Ile578=) | Christianson syndrome [RCV001436660]|not provided [RCV001655724] | likely benign|uncertain significance | X | 136040148 | 136040148 | Human | 1 | name , alternate_id |
| 127245309 | CV1108027 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1764C>T (p.Tyr588=) | Christianson syndrome [RCV001435193] | likely benign | X | 136040178 | 136040178 | Human | 1 | name , alternate_id |
| 127281684 | CV1108028 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1839A>T (p.Gly613=) | Christianson syndrome [RCV001447300] | likely benign | X | 136044523 | 136044523 | Human | 1 | name , alternate_id |
| 127290884 | CV1129402 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1227T>C (p.Ile409=) | Christianson syndrome [RCV001475893] | likely benign | X | 136022618 | 136022618 | Human | 1 | name , alternate_id |
| 127327385 | CV1129403 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1578C>T (p.His526=) | Christianson syndrome [RCV001469062]|Inborn genetic diseases [RCV002405101] | likely benign | X | 136030159 | 136030159 | Human | 2 | name , alternate_id |
| 127333913 | CV1150435 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1728A>G (p.Gly576=) | Christianson syndrome [RCV001490467] | likely benign | X | 136040142 | 136040142 | Human | 1 | name , alternate_id |
| 127292494 | CV1159371 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2022G>A (p.Thr674=) | Christianson syndrome [RCV001510862] | benign | X | 136044706 | 136044706 | Human | 1 | name , alternate_id |
| 150417780 | CV1182056 | single nucleotide variant | NM_001379110.1(SLC9A6):c.131C>T (p.Ala44Val) | not provided [RCV001550295] | uncertain significance | X | 135985789 | 135985789 | Human | | name |
| 151750952 | CV1360963 | single nucleotide variant | NM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn) | Christianson syndrome [RCV001894327] | uncertain significance | X | 135994849 | 135994849 | Human | 1 | name , alternate_id |
| 151798776 | CV1373715 | single nucleotide variant | NM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val) | Christianson syndrome [RCV001917519] | likely pathogenic|uncertain significance | X | 135994786 | 135994786 | Human | 1 | name , alternate_id |
| 151751370 | CV1385367 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1026A>G (p.Gln342=) | Christianson syndrome [RCV001969221] | likely benign|uncertain significance | X | 136013383 | 136013383 | Human | 1 | name , alternate_id |
| 151765912 | CV1387621 | duplication | NM_001379110.1(SLC9A6):c.806dup (p.Lys270fs) | Christianson syndrome [RCV001987775] | pathogenic | X | 136010502 | 136010503 | Human | 1 | name , alternate_id |
| 8692940 | CV142906 | single nucleotide variant | NM_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 submitters | X | 136013386 | 136013386 | Human | 2 | name , alternate_id |
| 8692946 | CV142912 | single nucleotide variant | NM_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 pathogenicity | X | 136040103 | 136040103 | Human | 2 | name , alternate_id |
| 151860336 | CV1452249 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1638G>T (p.Arg546=) | Christianson syndrome [RCV002017677] | uncertain significance | X | 136033470 | 136033470 | Human | 1 | name , alternate_id |
| 152063451 | CV1535611 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1992T>G (p.Ser664=) | Christianson syndrome [RCV002168293] | likely benign | X | 136044676 | 136044676 | Human | 1 | name , alternate_id |
| 152026353 | CV1550245 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1887A>G (p.Arg629=) | Christianson syndrome [RCV002185126] | benign | X | 136044571 | 136044571 | Human | 1 | name , alternate_id |
| 152031693 | CV1571853 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1170C>T (p.Asn390=) | Christianson syndrome [RCV002186753] | likely benign | X | 136016734 | 136016734 | Human | 1 | name , alternate_id |
| 152091299 | CV1602838 | single nucleotide variant | NM_001379110.1(SLC9A6):c.220G>A (p.Val74Ile) | Christianson syndrome [RCV002194334] | benign | X | 135994836 | 135994836 | Human | 1 | name , alternate_id |
| 152131993 | CV1633279 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1869A>T (p.Thr623=) | Christianson syndrome [RCV002137043]|not provided [RCV005256848] | likely benign | X | 136044553 | 136044553 | Human | 1 | name , alternate_id |
| 152064212 | CV1652247 | single nucleotide variant | NM_001379110.1(SLC9A6):c.290A>G (p.Lys97Arg) | Christianson syndrome [RCV002090658] | likely benign | X | 135994906 | 135994906 | Human | 1 | name , alternate_id |
| 152172809 | CV1652721 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2019T>C (p.Asn673=) | Christianson syndrome [RCV002143900] | likely benign | X | 136044703 | 136044703 | Human | 1 | name , alternate_id |
| 152172980 | CV1652828 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1638G>A (p.Arg546=) | Christianson syndrome [RCV002143959] | likely benign | X | 136033470 | 136033470 | Human | 1 | name , alternate_id |
| 9683841 | CV169939 | single nucleotide variant | NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser) | Christianson syndrome [RCV000147543] | uncertain significance | X | 135994827 | 135994827 | Human | 1 | name , alternate_id |
| 9683842 | CV169940 | single nucleotide variant | NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly) | Christianson syndrome [RCV000147544]|not provided [RCV004567164]|not specified [RCV004767090] | uncertain significance | X | 135994872 | 135994872 | Human | 1 | name , alternate_id |
| 155734231 | CV1842820 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1938G>A (p.Gly646=) | Inborn genetic diseases [RCV002408391] | likely benign | X | 136044622 | 136044622 | Human | 1 | name |
| 155687453 | CV1853635 | single nucleotide variant | NM_001379110.1(SLC9A6):c.138C>G (p.Phe46Leu) | Christianson syndrome [RCV003102909]|Inborn genetic diseases [RCV002441830] | uncertain significance | X | 135985796 | 135985796 | Human | 2 | name , alternate_id |
| 156409039 | CV1880056 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1059G>A (p.Glu353=) | Christianson syndrome [RCV003071507]|SLC9A6-related disorder [RCV003898736] | benign|likely benign | X | 136013416 | 136013416 | Human | 1 | name , trait , alternate_id |
| 156404840 | CV1883558 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1875C>T (p.Ser625=) | Christianson syndrome [RCV003069840] | likely benign | X | 136044559 | 136044559 | Human | 1 | name , alternate_id |
| 10398311 | CV203996 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1287A>G (p.Gln429=) | Christianson syndrome [RCV001456305]|not provided [RCV001721223]|not specified [RCV000189402] | benign|likely benign|conflicting interpretations of pathogenicity | X | 136022678 | 136022678 | Human | 1 | name , alternate_id |
| 156284675 | CV2043056 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1770C>T (p.Asn590=) | Christianson syndrome [RCV002770513] | likely benign | X | 136044454 | 136044454 | Human | 1 | name , alternate_id |
| 156324085 | CV2053965 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1953C>T (p.Val651=) | Christianson syndrome [RCV002810276] | likely benign | X | 136044637 | 136044637 | Human | 1 | name , alternate_id |
| 156328088 | CV2068803 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1128C>T (p.Tyr376=) | Christianson syndrome [RCV002835132] | likely benign | X | 136016692 | 136016692 | Human | 1 | name , alternate_id |
| 155905104 | CV2084125 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2039A>G (p.Ter680=) | Christianson syndrome [RCV002858104] | likely benign|uncertain significance | X | 136044723 | 136044723 | Human | 1 | name , alternate_id |
| 10406677 | CV208874 | single nucleotide variant | NM_001379110.1(SLC9A6):c.165T>G (p.Ile55Met) | not specified [RCV000193658] | uncertain significance | X | 135985823 | 135985823 | Human | | name |
| 155976157 | CV2100091 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1338C>T (p.Ala446=) | Christianson syndrome [RCV002881714] | likely benign | X | 136024361 | 136024361 | Human | 1 | name , alternate_id |
| 155957053 | CV2162851 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1746C>G (p.Leu582=) | Christianson syndrome [RCV003015159] | likely benign | X | 136040160 | 136040160 | Human | 1 | name , alternate_id |
| 8562507 | CV26517 | indel | NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC | Christianson syndrome [RCV000012233] | pathogenic | X | 135998188 | 135998189 | Human | | name , alternate_id |
| 11638000 | CV266455 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2001G>A (p.Pro667=) | Christianson syndrome [RCV001516730]|not provided [RCV000295638] | benign|likely benign|uncertain significance | X | 136044685 | 136044685 | Human | 1 | name , alternate_id |
| 11641640 | CV267773 | single nucleotide variant | NM_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 significance | X | 136024403 | 136024403 | Human | 1 | name , alternate_id |
| 401924553 | CV2804943 | single nucleotide variant | NM_001379110.1(SLC9A6):c.163A>G (p.Ile55Val) | Christianson syndrome [RCV003624522]|not specified [RCV003404761] | uncertain significance | X | 135985821 | 135985821 | Human | 1 | name , alternate_id |
| 401929619 | CV2824065 | single nucleotide variant | NM_001379110.1(SLC9A6):c.178G>A (p.Val60Met) | not provided [RCV003439897] | uncertain significance | X | 135994794 | 135994794 | Human | | name |
| 401929621 | CV2824066 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1389T>C (p.Leu463=) | Christianson syndrome [RCV005100080]|not provided [RCV003439898] | likely benign | X | 136024412 | 136024412 | Human | 1 | name , alternate_id |
| 404992013 | CV2860420 | single nucleotide variant | NM_001379110.1(SLC9A6):c.208G>T (p.Val70Phe) | Christianson syndrome [RCV003512920] | uncertain significance | X | 135994824 | 135994824 | Human | 1 | name , alternate_id |
| 404992373 | CV2870513 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1278A>G (p.Ser426=) | Christianson syndrome [RCV003512958] | likely benign | X | 136022669 | 136022669 | Human | 1 | name , alternate_id |
| 402473208 | CV2957188 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1572A>G (p.Gln524=) | Christianson syndrome [RCV003624708] | likely benign | X | 136030153 | 136030153 | Human | 1 | name , alternate_id |
| 402475667 | CV2966353 | deletion | NM_001379110.1(SLC9A6):c.445del (p.Arg149fs) | Christianson syndrome [RCV003625228] | pathogenic | X | 135998180 | 135998180 | Human | 1 | name , alternate_id |
| 402470210 | CV3027044 | single nucleotide variant | NM_001379110.1(SLC9A6):c.283A>G (p.Ser95Gly) | Christianson syndrome [RCV003623914] | likely benign | X | 135994899 | 135994899 | Human | 1 | name , alternate_id |
| 402480187 | CV3028523 | single nucleotide variant | NM_001379110.1(SLC9A6):c.133C>T (p.Arg45Cys) | Christianson syndrome [RCV003625976] | uncertain significance | X | 135985791 | 135985791 | Human | 1 | name , alternate_id |
| 402474362 | CV3079271 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1359T>C (p.Tyr453=) | Christianson syndrome [RCV003624981] | likely benign | X | 136024382 | 136024382 | Human | 1 | name , alternate_id |
| 405147981 | CV3152149 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2037C>T (p.Ala679=) | Christianson syndrome [RCV003856120] | likely benign | X | 136044721 | 136044721 | Human | 1 | name , alternate_id |
| 407425681 | CV3409547 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1503T>C (p.His501=) | not provided [RCV004585479] | likely benign | X | 136028928 | 136028928 | Human | | name |
| 407424909 | CV3410987 | single nucleotide variant | NM_001379110.1(SLC9A6):c.211C>G (p.Pro71Ala) | not provided [RCV004588677] | uncertain significance | X | 135994827 | 135994827 | Human | | name |
| 407573642 | CV3498009 | single nucleotide variant | NM_001379110.1(SLC9A6):c.146A>G (p.Glu49Gly) | not provided [RCV004701995] | uncertain significance | X | 135985804 | 135985804 | Human | | name |
| 408382248 | CV3504358 | single nucleotide variant | NM_001379110.1(SLC9A6):c.134G>C (p.Arg45Pro) | SLC9A6-related disorder [RCV004729714] | uncertain significance | X | 135985792 | 135985792 | Human | | name , trait , alternate_id |
| 12791890 | CV362395 | deletion | NM_001379110.1(SLC9A6):c.726del (p.Ala243fs) | Christianson syndrome [RCV000417039] | pathogenic | X | 136002195 | 136002195 | Human | 1 | name , alternate_id |
| 597951801 | CV3765485 | single nucleotide variant | NM_001379110.1(SLC9A6):c.119A>T (p.Lys40Met) | Christianson syndrome [RCV005121129] | uncertain significance | X | 135985777 | 135985777 | Human | 1 | name , alternate_id |
| 12840911 | CV377800 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1434T>C (p.Thr478=) | Christianson syndrome [RCV001495795]|not specified [RCV000431608] | likely benign | X | 136024457 | 136024457 | Human | 1 | name , alternate_id |
| 597901544 | CV3779116 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1008G>A (p.Leu336=) | Christianson syndrome [RCV005127193] | likely benign | X | 136013365 | 136013365 | Human | 1 | name , alternate_id |
| 12833323 | CV378895 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1143G>A (p.Leu381=) | Christianson syndrome [RCV001396840]|not specified [RCV000418279] | likely benign | X | 136016707 | 136016707 | Human | 1 | name , alternate_id |
| 597965093 | CV3830688 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1899C>T (p.Asn633=) | Christianson syndrome [RCV005164828] | likely benign | X | 136044583 | 136044583 | Human | 1 | name , alternate_id |
| 597834915 | CV3831964 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2004A>G (p.Leu668=) | Christianson syndrome [RCV005170967] | likely benign | X | 136044688 | 136044688 | Human | 1 | name , alternate_id |
| 597883189 | CV3857683 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1680G>A (p.Leu560=) | Christianson syndrome [RCV005199310] | likely benign | X | 136040094 | 136040094 | Human | 1 | name , alternate_id |
| 597917645 | CV3861401 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1590T>A (p.Pro530=) | Christianson syndrome [RCV005204558] | likely benign | X | 136033422 | 136033422 | Human | 1 | name , alternate_id |
| 598126753 | CV3882209 | single nucleotide variant | NM_001379110.1(SLC9A6):c.154C>A (p.Leu52Met) | not provided [RCV005233760] | uncertain significance | X | 135985812 | 135985812 | Human | | name |
| 598126984 | CV3887984 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1812T>C (p.Asn604=) | not provided [RCV005242670] | likely benign | X | 136044496 | 136044496 | Human | | name |
| 616934972 | CV4009200 | duplication | NM_001379110.1(SLC9A6):c.459dup (p.Arg154fs) | not provided [RCV005402372] | pathogenic | X | 135998486 | 135998487 | Human | | name |
| 12890631 | CV404120 | single nucleotide variant | NM_001379110.1(SLC9A6):c.206A>G (p.His69Arg) | Christianson syndrome [RCV000474987] | likely benign|uncertain significance | X | 135994822 | 135994822 | Human | 1 | name , alternate_id |
| 12890936 | CV404493 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1698G>A (p.Pro566=) | Christianson syndrome [RCV001472348] | likely benign | X | 136040112 | 136040112 | Human | 1 | name , alternate_id |
| 13477251 | CV446504 | single nucleotide variant | NM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala) | Christianson syndrome [RCV001300841]|not provided [RCV000520347] | uncertain significance | X | 135994878 | 135994878 | Human | 1 | name , alternate_id |
| 13497605 | CV471288 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1428C>T (p.Gly476=) | Christianson syndrome [RCV000525320] | likely benign|uncertain significance | X | 136024451 | 136024451 | Human | 1 | name , alternate_id |
| 13501387 | CV471733 | single nucleotide variant | NM_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 significance | X | 136016647 | 136016647 | Human | 1 | name , trait , alternate_id |
| 13467677 | CV471736 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1164C>T (p.Val388=) | Christianson syndrome [RCV000555538]|not provided [RCV004808774] | likely benign | X | 136016728 | 136016728 | Human | 1 | name , alternate_id |
| 13499515 | CV472064 | single nucleotide variant | NM_001379110.1(SLC9A6):c.113T>C (p.Leu38Pro) | Christianson syndrome [RCV000533095] | uncertain significance | X | 135985771 | 135985771 | Human | 1 | name , alternate_id |
| 13520919 | CV495788 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1140A>G (p.Thr380=) | not provided [RCV000599028] | uncertain significance | X | 136016704 | 136016704 | Human | | name |
| 13533793 | CV507746 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1006T>C (p.Leu336=) | Christianson syndrome [RCV003512064]|not specified [RCV000607196] | likely benign | X | 136013363 | 136013363 | Human | 1 | name , alternate_id |
| 13541376 | CV507852 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1038G>A (p.Thr346=) | Christianson syndrome [RCV001503135]|not specified [RCV000616075] | likely benign | X | 136013395 | 136013395 | Human | 1 | name , alternate_id |
| 13540664 | CV508326 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1671G>A (p.Lys557=) | not specified [RCV000615024] | likely benign | X | 136040085 | 136040085 | Human | | name |
| 13705429 | CV537036 | single nucleotide variant | NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro) | Christianson syndrome [RCV002534264]|not provided [RCV000657963] | uncertain significance | X | 135985788 | 135985788 | Human | 1 | name , alternate_id |
| 13801489 | CV577932 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1863G>A (p.Pro621=) | Christianson syndrome [RCV002534518]|not provided [RCV000713359] | likely benign | X | 136044547 | 136044547 | Human | 1 | name , alternate_id |
| 13830079 | CV580650 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1005A>G (p.Val335=) | Christianson syndrome [RCV002067052]|Inborn genetic diseases [RCV002316693] | benign|likely benign | X | 136013362 | 136013362 | Human | 2 | name , alternate_id |
| 13830515 | CV580775 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1833A>T (p.Thr611=) | Christianson syndrome [RCV000871440]|Inborn genetic diseases [RCV002317633] | likely benign | X | 136044517 | 136044517 | Human | 2 | name , alternate_id |
| 14713052 | CV656732 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1038G>T (p.Thr346=) | Christianson syndrome [RCV001458153]|not provided [RCV000828607] | likely benign | X | 136013395 | 136013395 | Human | 1 | name , alternate_id |
| 15123768 | CV684948 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1119C>T (p.Ile373=) | Christianson syndrome [RCV002064449]|not provided [RCV000862299] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 136016683 | 136016683 | Human | 1 | name , alternate_id |
| 15143031 | CV773770 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2031T>A (p.Gly677=) | Christianson syndrome [RCV001466320] | likely benign | X | 136044715 | 136044715 | Human | 1 | name , alternate_id |
| 15110890 | CV786706 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1566A>C (p.Ser522=) | Christianson syndrome [RCV001501049] | likely benign | X | 136030147 | 136030147 | Human | 1 | name , alternate_id |
| 40886943 | CV974307 | deletion | NM_001379110.1(SLC9A6):c.465del (p.Ser158fs) | Inborn genetic diseases [RCV001266270] | pathogenic | X | 135998499 | 135998499 | Human | 1 | name |
| 8642293 | CV101277 | single nucleotide variant | NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter) | Christianson syndrome [RCV001507034]|not provided [RCV000081397] | pathogenic | X | 136012979 | 136012979 | Human | 1 | name , alternate_id |
| 126735387 | CV1014769 | single nucleotide variant | NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln) | Christianson syndrome [RCV001313713] | uncertain significance | X | 135998495 | 135998495 | Human | 1 | name , alternate_id |
| 126915828 | CV1052282 | single nucleotide variant | NM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala) | Christianson syndrome [RCV001360212]|not provided [RCV001751705] | uncertain significance | X | 135998965 | 135998965 | Human | 1 | name , alternate_id |
| 127241102 | CV1065164 | single nucleotide variant | NM_001379110.1(SLC9A6):c.953G>T (p.Trp318Leu) | Christianson syndrome [RCV001383590] | pathogenic | X | 136013016 | 136013016 | Human | | name , alternate_id |
| 150422502 | CV1182057 | single nucleotide variant | NM_001379110.1(SLC9A6):c.475A>G (p.Ile159Val) | Christianson syndrome [RCV002568344]|not provided [RCV001552734] | uncertain significance | X | 135998509 | 135998509 | Human | 1 | name , alternate_id |
| 150419156 | CV1199424 | duplication | NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs) | Christianson syndrome [RCV002072270]|not provided [RCV001577049] | pathogenic|likely pathogenic | X | 136024459 | 136024460 | Human | 1 | name , alternate_id |
| 150497969 | CV1224058 | deletion | NM_001379110.1(SLC9A6):c.1661+114_1661+172del | not provided [RCV001620170] | benign | X | 136033604 | 136033662 | Human | | name |
| 150527909 | CV1300918 | single nucleotide variant | NM_001379110.1(SLC9A6):c.420A>G (p.Ile140Met) | not provided [RCV001754778] | uncertain significance | X | 135998158 | 135998158 | Human | | name |
| 150552223 | CV1302307 | single nucleotide variant | NM_001379110.1(SLC9A6):c.574G>T (p.Ala192Ser) | Christianson syndrome [RCV005095003]|not provided [RCV001767571] | uncertain significance | X | 135998905 | 135998905 | Human | 1 | name , alternate_id |
| 150542099 | CV1302487 | single nucleotide variant | NM_001379110.1(SLC9A6):c.921G>C (p.Leu307Phe) | not provided [RCV001761177] | uncertain significance | X | 136012984 | 136012984 | Human | | name |
| 150550672 | CV1305073 | single nucleotide variant | NM_001379110.1(SLC9A6):c.803T>A (p.Met268Lys) | not provided [RCV001765853] | uncertain significance | X | 136010501 | 136010501 | Human | | name |
| 151750391 | CV1357463 | single nucleotide variant | NM_001379110.1(SLC9A6):c.534G>A (p.Met178Ile) | Christianson syndrome [RCV001872197] | uncertain significance | X | 135998865 | 135998865 | Human | 1 | name , alternate_id |
| 151803067 | CV1375422 | single nucleotide variant | NM_001379110.1(SLC9A6):c.902A>G (p.Lys301Arg) | Christianson syndrome [RCV001953106] | uncertain significance | X | 136012965 | 136012965 | Human | 1 | name , alternate_id |
| 151719196 | CV1397525 | single nucleotide variant | NM_001379110.1(SLC9A6):c.803T>C (p.Met268Thr) | Christianson syndrome [RCV001982794] | uncertain significance | X | 136010501 | 136010501 | Human | 1 | name , alternate_id |
| 151806708 | CV1400088 | deletion | NM_001379110.1(SLC9A6):c.1644del (p.Trp548fs) | Christianson syndrome [RCV002012056] | pathogenic | X | 136033475 | 136033475 | Human | 1 | name , alternate_id |
| 151784582 | CV1435231 | single nucleotide variant | NM_001379110.1(SLC9A6):c.682C>T (p.Leu228Phe) | Christianson syndrome [RCV001916190] | uncertain significance | X | 136002152 | 136002152 | Human | 1 | name , alternate_id |
| 151802695 | CV1437640 | single nucleotide variant | NM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val) | Christianson syndrome [RCV001899205] | uncertain significance | X | 135998138 | 135998138 | Human | 1 | name , alternate_id |
| 151866481 | CV1472520 | single nucleotide variant | NM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe) | Christianson syndrome [RCV002018407] | uncertain significance | X | 135998108 | 135998108 | Human | 1 | name , alternate_id |
| 151892572 | CV1493672 | single nucleotide variant | NM_001379110.1(SLC9A6):c.959C>G (p.Thr320Ser) | Christianson syndrome [RCV001944253] | uncertain significance | X | 136013022 | 136013022 | Human | 1 | name , alternate_id |
| 152104013 | CV1667565 | single nucleotide variant | NM_001379110.1(SLC9A6):c.991G>C (p.Gly331Arg) | not provided [RCV002214553] | likely pathogenic | X | 136013054 | 136013054 | Human | | name |
| 9683843 | CV169941 | single nucleotide variant | NM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val) | Christianson syndrome [RCV000147545]|not provided [RCV003436957] | uncertain significance | X | 135998860 | 135998860 | Human | 1 | name , alternate_id |
| 155749701 | CV1776376 | single nucleotide variant | NM_001379110.1(SLC9A6):c.775A>G (p.Asn259Asp) | Christianson syndrome [RCV002304927] | uncertain significance | X | 136010473 | 136010473 | Human | 1 | name , alternate_id |
| 155696182 | CV1800670 | single nucleotide variant | NM_001379110.1(SLC9A6):c.539G>A (p.Gly180Asp) | Inborn genetic diseases [RCV002357928]|not provided [RCV002511162] | uncertain significance | X | 135998870 | 135998870 | Human | 1 | name |
| 155717376 | CV1822953 | single nucleotide variant | NM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly) | Christianson syndrome [RCV003103392]|Inborn genetic diseases [RCV002380232] | uncertain significance | X | 136002144 | 136002144 | Human | 2 | name , alternate_id |
| 155798745 | CV1860778 | deletion | NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs) | Christianson syndrome [RCV002467421] | likely pathogenic | X | 136016753 | 136016753 | Human | 1 | name , alternate_id |
| 156167224 | CV1866936 | single nucleotide variant | NM_001379110.1(SLC9A6):c.586T>C (p.Tyr196His) | not provided [RCV002508488] | uncertain significance | X | 135998917 | 135998917 | Human | | name |
| 10052179 | CV194438 | single nucleotide variant | NM_001379110.1(SLC9A6):c.454T>G (p.Phe152Val) | not provided [RCV000178269] | uncertain significance | X | 135998488 | 135998488 | Human | | name |
| 10053043 | CV195701 | single nucleotide variant | NM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu) | Christianson syndrome [RCV001542375]|not provided [RCV000179915] | uncertain significance | X | 136010523 | 136010523 | Human | 1 | name , alternate_id |
| 156155682 | CV1967632 | single nucleotide variant | NM_001379110.1(SLC9A6):c.766G>C (p.Ala256Pro) | Christianson syndrome [RCV002594293] | uncertain significance | X | 136010464 | 136010464 | Human | 1 | name , alternate_id |
| 10398314 | CV203984 | single nucleotide variant | NM_001379110.1(SLC9A6):c.338A>G (p.Asn113Ser) | not specified [RCV000502979] | uncertain significance | X | 135994954 | 135994954 | Human | | name |
| 10398315 | CV203986 | single nucleotide variant | NM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly) | Christianson syndrome [RCV001229044]|not provided [RCV000189406] | uncertain significance | X | 135998482 | 135998482 | Human | 1 | name , alternate_id |
| 10398310 | CV203987 | single nucleotide variant | NM_001379110.1(SLC9A6):c.452A>T (p.His151Leu) | Christianson syndrome [RCV001342805]|not specified [RCV000189401] | likely benign|uncertain significance | X | 135998486 | 135998486 | Human | 1 | name , alternate_id |
| 10398316 | CV203988 | single nucleotide variant | NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr) | Christianson syndrome [RCV001051665]|not provided [RCV000189407] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 135998521 | 135998521 | Human | 1 | name , alternate_id |
| 10398329 | CV203992 | single nucleotide variant | NM_001379110.1(SLC9A6):c.563C>T (p.Thr188Met) | Christianson syndrome [RCV001370517]|not provided [RCV000189421] | uncertain significance | X | 135998894 | 135998894 | Human | 1 | name , alternate_id |
| 156134696 | CV2113243 | single nucleotide variant | NM_001379110.1(SLC9A6):c.569A>G (p.Gln190Arg) | Christianson syndrome [RCV002928334] | uncertain significance | X | 135998900 | 135998900 | Human | 1 | name , alternate_id |
| 156236355 | CV2155732 | single nucleotide variant | NM_001379110.1(SLC9A6):c.814A>G (p.Ile272Val) | Christianson syndrome [RCV003007936] | uncertain significance | X | 136010512 | 136010512 | Human | 1 | name , alternate_id |
| 156000434 | CV2159446 | single nucleotide variant | NM_001379110.1(SLC9A6):c.932G>A (p.Gly311Asp) | Christianson syndrome [RCV003017247] | uncertain significance | X | 136012995 | 136012995 | Human | 1 | name , alternate_id |
| 156394307 | CV2181782 | single nucleotide variant | NM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter) | Christianson syndrome [RCV003051683] | pathogenic | X | 136013016 | 136013016 | Human | 1 | name , alternate_id |
| 156448836 | CV2402256 | single nucleotide variant | NM_001379110.1(SLC9A6):c.512G>A (p.Cys171Tyr) | not provided [RCV003120415] | uncertain significance | X | 135998546 | 135998546 | Human | | name |
| 329848033 | CV2667652 | single nucleotide variant | NM_001379110.1(SLC9A6):c.746C>T (p.Ser249Leu) | not provided [RCV003229219] | uncertain significance | X | 136010444 | 136010444 | Human | | name |
| 401870165 | CV2749323 | single nucleotide variant | NM_001379110.1(SLC9A6):c.679G>A (p.Glu227Lys) | not provided [RCV003332451] | uncertain significance | X | 136002149 | 136002149 | Human | | name |
| 404986384 | CV2854643 | single nucleotide variant | NM_001379110.1(SLC9A6):c.609T>G (p.Phe203Leu) | Christianson syndrome [RCV003512329] | uncertain significance | X | 135998940 | 135998940 | Human | 1 | name , alternate_id |
| 404987169 | CV2859083 | single nucleotide variant | NM_001379110.1(SLC9A6):c.897C>G (p.Phe299Leu) | Christianson syndrome [RCV003512419] | uncertain significance | X | 136012960 | 136012960 | Human | 1 | name , alternate_id |
| 404992425 | CV2870707 | single nucleotide variant | NM_001379110.1(SLC9A6):c.980G>A (p.Trp327Ter) | Christianson syndrome [RCV003512964] | pathogenic | X | 136013043 | 136013043 | Human | 1 | name , alternate_id |
| 404983799 | CV2910336 | single nucleotide variant | NM_001379110.1(SLC9A6):c.622T>A (p.Ser208Thr) | Christianson syndrome [RCV003511927] | uncertain significance | X | 135998953 | 135998953 | Human | 1 | name , alternate_id |
| 402472454 | CV2946305 | single nucleotide variant | NM_001379110.1(SLC9A6):c.533T>C (p.Met178Thr) | Christianson syndrome [RCV003624538] | uncertain significance | X | 135998864 | 135998864 | Human | 1 | name , alternate_id |
| 402476100 | CV2987928 | single nucleotide variant | NM_001379110.1(SLC9A6):c.750A>G (p.Ile250Met) | Christianson syndrome [RCV003625310] | uncertain significance | X | 136010448 | 136010448 | Human | 1 | name , alternate_id |
| 402478736 | CV3005174 | duplication | NM_001379110.1(SLC9A6):c.1684dup (p.His562fs) | Christianson syndrome [RCV003625770] | pathogenic | X | 136040095 | 136040096 | Human | 1 | name , alternate_id |
| 405771451 | CV3322420 | single nucleotide variant | NM_001379110.1(SLC9A6):c.481G>T (p.Ala161Ser) | Inborn genetic diseases [RCV004457051] | uncertain significance | X | 135998515 | 135998515 | Human | 1 | name |
| 408365212 | CV3500398 | single nucleotide variant | NM_001379110.1(SLC9A6):c.413C>A (p.Pro138His) | Christianson syndrome [RCV004720602] | likely pathogenic | X | 135998151 | 135998151 | Human | 1 | name , alternate_id |
| 408391425 | CV3521079 | single nucleotide variant | NM_001379110.1(SLC9A6):c.452A>C (p.His151Pro) | not provided [RCV004762901] | uncertain significance | X | 135998486 | 135998486 | Human | | name |
| 408394731 | CV3522056 | single nucleotide variant | NM_001379110.1(SLC9A6):c.460C>T (p.Arg154Ter) | Christianson syndrome [RCV004764840]|not provided [RCV004787166] | pathogenic|likely pathogenic | X | 135998494 | 135998494 | Human | 1 | name , alternate_id |
| 408388701 | CV3522696 | single nucleotide variant | NM_001379110.1(SLC9A6):c.619G>T (p.Val207Leu) | not provided [RCV004769077] | uncertain significance | X | 135998950 | 135998950 | Human | | name |
| 408388873 | CV3529129 | single nucleotide variant | NM_001379110.1(SLC9A6):c.716A>G (p.Asn239Ser) | not provided [RCV004773951] | uncertain significance | X | 136002186 | 136002186 | Human | | name |
| 596924211 | CV3532130 | single nucleotide variant | NM_001379110.1(SLC9A6):c.497G>A (p.Gly166Glu) | not provided [RCV004777241] | uncertain significance | X | 135998531 | 135998531 | Human | | name |
| 596942812 | CV3544212 | single nucleotide variant | NM_001379110.1(SLC9A6):c.881C>T (p.Ala294Val) | not specified [RCV004800204] | uncertain significance | X | 136010579 | 136010579 | Human | | name |
| 597909474 | CV3749533 | single nucleotide variant | NM_001379110.1(SLC9A6):c.800C>T (p.Ala267Val) | Christianson syndrome [RCV005073381] | uncertain significance | X | 136010498 | 136010498 | Human | 1 | name , alternate_id |
| 597921924 | CV3774996 | single nucleotide variant | NM_001379110.1(SLC9A6):c.570A>C (p.Gln190His) | Christianson syndrome [RCV005115342] | uncertain significance | X | 135998901 | 135998901 | Human | 1 | name , alternate_id |
| 597936258 | CV3777629 | single nucleotide variant | NM_001379110.1(SLC9A6):c.743C>T (p.Ser248Phe) | Christianson syndrome [RCV005132542] | uncertain significance | X | 136002213 | 136002213 | Human | 1 | name , alternate_id |
| 597916503 | CV3779380 | single nucleotide variant | NM_001379110.1(SLC9A6):c.593C>G (p.Thr198Arg) | Christianson syndrome [RCV005129521] | uncertain significance | X | 135998924 | 135998924 | Human | 1 | name , alternate_id |
| 597930108 | CV3789255 | single nucleotide variant | NM_001379110.1(SLC9A6):c.740C>T (p.Ser247Phe) | Christianson syndrome [RCV005131536] | uncertain significance | X | 136002210 | 136002210 | Human | 1 | name , alternate_id |
| 597964473 | CV3792278 | single nucleotide variant | NM_001379110.1(SLC9A6):c.401T>A (p.Ile134Lys) | Christianson syndrome [RCV005139835] | uncertain significance | X | 135998139 | 135998139 | Human | 1 | name , alternate_id |
| 598126713 | CV3882168 | single nucleotide variant | NM_001379110.1(SLC9A6):c.833T>G (p.Ile278Ser) | not provided [RCV005233719] | uncertain significance | X | 136010531 | 136010531 | Human | | name |
| 598122980 | CV3890130 | single nucleotide variant | NM_001379110.1(SLC9A6):c.346C>T (p.Gln116Ter) | not provided [RCV005250649] | uncertain significance | X | 135994962 | 135994962 | Human | | name |
| 616935614 | CV4016156 | deletion | NM_001379110.1(SLC9A6):c.1799del (p.Asp600fs) | not provided [RCV005415022] | uncertain significance | X | 136044483 | 136044483 | Human | | name |
| 13212073 | CV426406 | single nucleotide variant | NM_001379110.1(SLC9A6):c.731T>G (p.Ile244Arg) | not provided [RCV000498299] | uncertain significance | X | 136002201 | 136002201 | Human | | name |
| 13499293 | CV471285 | single nucleotide variant | NM_001379110.1(SLC9A6):c.886G>A (p.Val296Met) | Christianson syndrome [RCV000532326] | uncertain significance | X | 136012949 | 136012949 | Human | 1 | name , alternate_id |
| 13464771 | CV471722 | single nucleotide variant | NM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys) | Christianson syndrome [RCV000543846]|not provided [RCV002464255] | uncertain significance | X | 135998163 | 135998163 | Human | 1 | name , alternate_id |
| 13529057 | CV508504 | single nucleotide variant | NM_001379110.1(SLC9A6):c.370G>A (p.Val124Ile) | not specified [RCV000600194] | likely benign | X | 135998108 | 135998108 | Human | | name |
| 13535492 | CV508505 | single nucleotide variant | NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile) | Christianson syndrome [RCV002065336]|Inborn genetic diseases [RCV002358707]|not provided [RCV000871818] | likely benign|uncertain significance | X | 135998551 | 135998551 | Human | 2 | name , alternate_id |
| 13822336 | CV575333 | single nucleotide variant | NM_001379110.1(SLC9A6):c.559G>A (p.Val187Ile) | Christianson syndrome [RCV000697166] | uncertain significance | X | 135998890 | 135998890 | Human | 1 | name , alternate_id |
| 14733252 | CV649714 | single nucleotide variant | NM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu) | Christianson syndrome [RCV000802213] | uncertain significance | X | 135998131 | 135998131 | Human | 1 | name , alternate_id |
| 14729217 | CV649716 | single nucleotide variant | NM_001379110.1(SLC9A6):c.652A>G (p.Ile218Val) | Christianson syndrome [RCV000800387] | uncertain significance | X | 136002122 | 136002122 | Human | 1 | name , alternate_id |
| 21404300 | CV802043 | single nucleotide variant | NM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp) | Christianson syndrome [RCV001004677] | pathogenic | X | 136013349 | 136013349 | Human | 1 | name , alternate_id |
| 38490909 | CV929573 | single nucleotide variant | NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val) | Christianson syndrome [RCV001222469] | uncertain significance | X | 136013034 | 136013034 | Human | 1 | name , alternate_id |
| 38462365 | CV939443 | single nucleotide variant | NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met) | Christianson syndrome [RCV001212192]|Inborn genetic diseases [RCV004671258]|Intellectual disability [RCV001251651] | uncertain significance | X | 135998879 | 135998879 | Human | 4 | name , alternate_id |
| 40904208 | CV976678 | single nucleotide variant | NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn) | Christianson syndrome [RCV001270374]|Inborn genetic diseases [RCV002541646] | uncertain significance | X | 135998540 | 135998540 | Human | 2 | name , alternate_id |
| 40904230 | CV976679 | single nucleotide variant | NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr) | Christianson syndrome [RCV001270393] | uncertain significance | X | 136010519 | 136010519 | Human | 1 | name , alternate_id |
| 41406638 | CV983240 | single nucleotide variant | NM_001379110.1(SLC9A6):c.908G>T (p.Arg303Leu) | not provided [RCV001288765] | uncertain significance | X | 136012971 | 136012971 | Human | | name |
| 126767687 | CV999621 | single nucleotide variant | NM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser) | Christianson syndrome [RCV001302383] | uncertain significance | X | 136013045 | 136013045 | Human | 1 | name , alternate_id |
| 126741832 | CV1014770 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe) | Christianson syndrome [RCV001325395] | uncertain significance | X | 136040125 | 136040125 | Human | 1 | name , alternate_id |
| 126735617 | CV1014771 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His) | Christianson syndrome [RCV001313742] | uncertain significance | X | 136044452 | 136044452 | Human | 1 | name , alternate_id |
| 126764756 | CV1014772 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser) | Christianson syndrome [RCV001319777] | conflicting interpretations of pathogenicity|uncertain significance | X | 136044702 | 136044702 | Human | 1 | name , alternate_id |
| 126751705 | CV1035363 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys) | Christianson syndrome [RCV001338290] | uncertain significance | X | 136024443 | 136024443 | Human | 1 | name , alternate_id |
| 126766230 | CV1035364 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr) | Christianson syndrome [RCV001342341] | uncertain significance | X | 136044560 | 136044560 | Human | 1 | name , alternate_id |
| 126916413 | CV1052283 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser) | Christianson syndrome [RCV001360563] | uncertain significance | X | 136016721 | 136016721 | Human | 1 | name , alternate_id |
| 126918509 | CV1052284 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu) | Christianson syndrome [RCV001372697] | uncertain significance | X | 136044642 | 136044642 | Human | 1 | name , alternate_id |
| 127230109 | CV1086285 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1862C>T (p.Pro621Leu) | Christianson syndrome [RCV001394571]|Inborn genetic diseases [RCV002413932] | likely benign | X | 136044546 | 136044546 | Human | 2 | name , alternate_id |
| 127280194 | CV1108029 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1844C>T (p.Ser615Phe) | Christianson syndrome [RCV001446311] | likely benign | X | 136044528 | 136044528 | Human | 1 | name , alternate_id |
| 127306221 | CV1159370 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1922G>A (p.Arg641Gln) | Christianson syndrome [RCV001516540] | benign | X | 136044606 | 136044606 | Human | 1 | name , alternate_id |
| 150406019 | CV1195700 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1313G>A (p.Arg438His) | Christianson syndrome [RCV003485721]|not provided [RCV001571891] | uncertain significance | X | 136024336 | 136024336 | Human | 1 | name , alternate_id |
| 150495713 | CV1205075 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn) | Christianson syndrome [RCV001866179]|not provided [RCV001593567] | benign|likely benign|uncertain significance | X | 136022660 | 136022660 | Human | 1 | name , alternate_id |
| 150460316 | CV1205756 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1738A>T (p.Arg580Trp) | Christianson syndrome [RCV002573338]|not provided [RCV001586713] | uncertain significance | X | 136040152 | 136040152 | Human | 1 | name , alternate_id |
| 150434480 | CV1243961 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1159C>T (p.His387Tyr) | not provided [RCV001665168] | likely pathogenic | X | 136016723 | 136016723 | Human | | name |
| 150547988 | CV1303955 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1849G>A (p.Val617Met) | not provided [RCV001764058] | uncertain significance | X | 136044533 | 136044533 | Human | | name |
| 151889996 | CV1350398 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1588C>G (p.Pro530Ala) | Christianson syndrome [RCV002038715] | uncertain significance | X | 136033420 | 136033420 | Human | 1 | name , alternate_id |
| 151757819 | CV1361499 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1690G>A (p.Gly564Arg) | Christianson syndrome [RCV001928164] | uncertain significance | X | 136040104 | 136040104 | Human | 1 | name , alternate_id |
| 151844112 | CV1375892 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1958G>A (p.Arg653Gln) | Christianson syndrome [RCV001995111] | uncertain significance | X | 136044642 | 136044642 | Human | 1 | name , alternate_id |
| 151713214 | CV1394637 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1826G>A (p.Ser609Asn) | Christianson syndrome [RCV001889808] | uncertain significance | X | 136044510 | 136044510 | Human | 1 | name , alternate_id |
| 151821123 | CV1416311 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr) | Christianson syndrome [RCV001919584]|Inborn genetic diseases [RCV004044157] | uncertain significance | X | 136044639 | 136044639 | Human | 2 | name , alternate_id |
| 151823388 | CV1425180 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1055C>T (p.Thr352Met) | Christianson syndrome [RCV001919797]|not provided [RCV004762227] | uncertain significance | X | 136013412 | 136013412 | Human | 1 | name , alternate_id |
| 8692944 | CV142910 | single nucleotide variant | NM_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 pathogenicity | X | 136033469 | 136033469 | Human | 4 | name , alternate_id |
| 151868843 | CV1438177 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1037C>T (p.Thr346Met) | Christianson syndrome [RCV001906210] | uncertain significance | X | 136013394 | 136013394 | Human | 1 | name , alternate_id |
| 151814551 | CV1444477 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2006A>G (p.Asn669Ser) | Christianson syndrome [RCV001933537] | uncertain significance | X | 136044690 | 136044690 | Human | 1 | name , alternate_id |
| 151886686 | CV1455174 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2000C>T (p.Pro667Leu) | Christianson syndrome [RCV002038025] | uncertain significance | X | 136044684 | 136044684 | Human | 1 | name , alternate_id |
| 151873422 | CV1467362 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met) | Christianson syndrome [RCV001925505]|Inborn genetic diseases [RCV002557565]|not provided [RCV003438893] | uncertain significance | X | 136024408 | 136024408 | Human | 2 | name , alternate_id |
| 151889386 | CV1468647 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1983G>A (p.Met661Ile) | Christianson syndrome [RCV002001282]|not specified [RCV004782846] | uncertain significance | X | 136044667 | 136044667 | Human | 1 | name , alternate_id |
| 151796669 | CV1499673 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1223A>G (p.Asn408Ser) | Christianson syndrome [RCV001917326] | uncertain significance | X | 136022614 | 136022614 | Human | 1 | name , alternate_id |
| 151709740 | CV1501946 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1721G>A (p.Cys574Tyr) | Christianson syndrome [RCV001907739] | uncertain significance | X | 136040135 | 136040135 | Human | 1 | name , alternate_id |
| 152981883 | CV1678841 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1387C>T (p.Leu463Phe) | Christianson syndrome [RCV003774724]|not provided [RCV002248231] | uncertain significance | X | 136024410 | 136024410 | Human | 1 | name , alternate_id |
| 153302437 | CV1688225 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1939G>A (p.Asp647Asn) | Christianson syndrome [RCV005095935]|not provided [RCV002265451] | uncertain significance | X | 136044623 | 136044623 | Human | 1 | name , alternate_id |
| 153301116 | CV1688961 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1814A>T (p.Asp605Val) | Christianson syndrome [RCV002266689] | uncertain significance | X | 136044498 | 136044498 | Human | 1 | name , alternate_id |
| 153348907 | CV1692953 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1150T>C (p.Phe384Leu) | not provided [RCV002274809] | uncertain significance | X | 136016714 | 136016714 | Human | | name |
| 153348069 | CV1695118 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1438A>C (p.Met480Leu) | not provided [RCV002279049] | uncertain significance | X | 136024461 | 136024461 | Human | | name |
| 9683839 | CV169942 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter) | Christianson syndrome [RCV000147541] | pathogenic | X | 136044696 | 136044696 | Human | 1 | name , alternate_id |
| 155267672 | CV1705072 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1658A>G (p.His553Arg) | not provided [RCV002285677] | uncertain significance | X | 136033490 | 136033490 | Human | | name |
| 10050087 | CV191400 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1558G>A (p.Val520Ile) | not provided [RCV000174561] | uncertain significance | X | 136030139 | 136030139 | Human | | name |
| 10050184 | CV191557 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1599A>C (p.Glu533Asp) | Christianson syndrome [RCV003624407]|not provided [RCV000723930] | likely benign|uncertain significance | X | 136033431 | 136033431 | Human | 1 | name , alternate_id |
| 156408870 | CV1922086 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1664A>G (p.Tyr555Cys) | Christianson syndrome [RCV002607378] | uncertain significance | X | 136040078 | 136040078 | Human | 1 | name , alternate_id |
| 156440424 | CV1943477 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1201A>G (p.Ile401Val) | Christianson syndrome [RCV003110457] | uncertain significance | X | 136022592 | 136022592 | Human | 1 | name , alternate_id |
| 156348812 | CV1989285 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1330G>A (p.Ala444Thr) | Christianson syndrome [RCV002631829] | uncertain significance | X | 136024353 | 136024353 | Human | 1 | name , alternate_id |
| 156092189 | CV1994418 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1636C>T (p.Arg546Trp) | Christianson syndrome [RCV002639261] | uncertain significance | X | 136033468 | 136033468 | Human | 1 | name , alternate_id |
| 10398321 | CV203995 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1070G>C (p.Arg357Thr) | not provided [RCV000766836]|not specified [RCV000189412] | uncertain significance | X | 136013427 | 136013427 | Human | | name |
| 10398330 | CV203997 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1588C>A (p.Pro530Thr) | Christianson syndrome [RCV001346203]|not provided [RCV000189422] | uncertain significance | X | 136033420 | 136033420 | Human | 1 | name , alternate_id |
| 10398323 | CV204000 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1751G>A (p.Ser584Asn) | not provided [RCV000189415] | uncertain significance | X | 136040165 | 136040165 | Human | | name |
| 155927165 | CV2095785 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1871C>A (p.Ser624Tyr) | Christianson syndrome [RCV002903632] | uncertain significance | X | 136044555 | 136044555 | Human | 1 | name , alternate_id |
| 156227102 | CV2115415 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1951G>A (p.Val651Ile) | Christianson syndrome [RCV002932680] | uncertain significance | X | 136044635 | 136044635 | Human | 1 | name , alternate_id |
| 155984350 | CV2153717 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1132G>A (p.Gly378Arg) | Christianson syndrome [RCV003016526] | uncertain significance | X | 136016696 | 136016696 | Human | 1 | name , alternate_id |
| 156364864 | CV2187168 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1900A>G (p.Ser634Gly) | Christianson syndrome [RCV003065882] | likely benign | X | 136044584 | 136044584 | Human | 1 | name , alternate_id |
| 156155293 | CV2190798 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1718C>G (p.Ala573Gly) | Christianson syndrome [RCV003040509] | uncertain significance | X | 136040132 | 136040132 | Human | 1 | name , alternate_id |
| 156240583 | CV2231287 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1387C>G (p.Leu463Val) | Inborn genetic diseases [RCV002713351] | uncertain significance | X | 136024410 | 136024410 | Human | 1 | name |
| 156087742 | CV2295449 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1702A>G (p.Thr568Ala) | Inborn genetic diseases [RCV002887824] | uncertain significance | X | 136040116 | 136040116 | Human | 1 | name |
| 243060720 | CV2408698 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val) | Christianson syndrome [RCV003136828] | uncertain significance | X | 136044575 | 136044575 | Human | 1 | name , alternate_id |
| 329846442 | CV2534049 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1735G>A (p.Ala579Thr) | Christianson syndrome [RCV003624509]|not provided [RCV003228255] | uncertain significance | X | 136040149 | 136040149 | Human | 1 | name , alternate_id |
| 8598687 | CV26516 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter) | Christianson syndrome [RCV000012232]|not provided [RCV000627211] | pathogenic | X | 136024365 | 136024365 | Human | 1 | name , alternate_id |
| 11654342 | CV266052 | single nucleotide variant | NM_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 significance | X | 136044705 | 136044705 | Human | 1 | name , alternate_id |
| 329848316 | CV2667950 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg) | Christianson syndrome [RCV003229503] | likely pathogenic | X | 136016750 | 136016750 | Human | 1 | name , alternate_id |
| 329954101 | CV2669420 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1966C>T (p.Arg656Cys) | not provided [RCV003231928]|not specified [RCV005406654] | uncertain significance | X | 136044650 | 136044650 | Human | | name |
| 329952937 | CV2669646 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1378A>G (p.Ser460Gly) | Christianson syndrome [RCV005047478]|not provided [RCV003234269] | uncertain significance | X | 136024401 | 136024401 | Human | 1 | name , alternate_id |
| 329953024 | CV2669733 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1777C>G (p.Gln593Glu) | Inborn genetic diseases [RCV003274362]|not provided [RCV003234357] | uncertain significance | X | 136044461 | 136044461 | Human | 1 | name |
| 401763666 | CV2725244 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1321A>G (p.Met441Val) | Inborn genetic diseases [RCV003258285] | uncertain significance | X | 136024344 | 136024344 | Human | 1 | name |
| 401828204 | CV2744563 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1570C>T (p.Gln524Ter) | not provided [RCV003327961] | pathogenic | X | 136030151 | 136030151 | Human | | name |
| 401872953 | CV2749702 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1042A>C (p.Asn348His) | not provided [RCV003332831] | uncertain significance | X | 136013399 | 136013399 | Human | | name |
| 401877908 | CV2786855 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1394T>C (p.Ile465Thr) | Inborn genetic diseases [RCV003383959] | uncertain significance | X | 136024417 | 136024417 | Human | 1 | name |
| 401860318 | CV2794489 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1072A>G (p.Thr358Ala) | not provided [RCV003387657] | uncertain significance | X | 136013429 | 136013429 | Human | | name |
| 404981153 | CV2896883 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1817G>T (p.Gly606Val) | Christianson syndrome [RCV003511530] | uncertain significance | X | 136044501 | 136044501 | Human | 1 | name , alternate_id |
| 402472993 | CV2948926 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1348A>G (p.Thr450Ala) | Christianson syndrome [RCV003624660] | uncertain significance | X | 136024371 | 136024371 | Human | 1 | name , alternate_id |
| 402475370 | CV2965299 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1690G>C (p.Gly564Arg) | Christianson syndrome [RCV003625173] | uncertain significance | X | 136040104 | 136040104 | Human | 1 | name , alternate_id |
| 402475619 | CV2965943 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1183G>A (p.Val395Ile) | Christianson syndrome [RCV003625220] | uncertain significance | X | 136016747 | 136016747 | Human | 1 | name , alternate_id |
| 402473732 | CV2970232 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1171C>A (p.Pro391Thr) | Christianson syndrome [RCV003624854] | uncertain significance | X | 136016735 | 136016735 | Human | 1 | name , alternate_id |
| 402475885 | CV2983968 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1700T>C (p.Leu567Pro) | Christianson syndrome [RCV003625271]|not provided [RCV005254854] | uncertain significance | X | 136040114 | 136040114 | Human | 1 | name , alternate_id |
| 402478848 | CV3008662 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1438A>G (p.Met480Val) | Christianson syndrome [RCV003625786] | uncertain significance | X | 136024461 | 136024461 | Human | 1 | name , alternate_id |
| 402478529 | CV3014593 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1921C>T (p.Arg641Trp) | Christianson syndrome [RCV003625741] | uncertain significance | X | 136044605 | 136044605 | Human | 1 | name , alternate_id |
| 402474203 | CV3078534 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1454A>G (p.His485Arg) | Christianson syndrome [RCV003624950]|not provided [RCV004765973] | uncertain significance | X | 136024477 | 136024477 | Human | 1 | name , alternate_id |
| 408369705 | CV3502848 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1796C>T (p.Ser599Phe) | not provided [RCV004723969] | uncertain significance | X | 136044480 | 136044480 | Human | | name |
| 408385420 | CV3527017 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1288C>G (p.His430Asp) | not provided [RCV004772330] | uncertain significance | X | 136022679 | 136022679 | Human | | name |
| 408386096 | CV3528793 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1408G>A (p.Val470Met) | not provided [RCV004772626] | uncertain significance | X | 136024431 | 136024431 | Human | | name |
| 596921675 | CV3535297 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1844C>G (p.Ser615Cys) | not provided [RCV004784856] | uncertain significance | X | 136044528 | 136044528 | Human | | name |
| 596927233 | CV3536532 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1313G>T (p.Arg438Leu) | Christianson syndrome [RCV004789941] | uncertain significance | X | 136024336 | 136024336 | Human | 1 | name , alternate_id |
| 596927106 | CV3539927 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1034A>C (p.Tyr345Ser) | not provided [RCV004790918] | uncertain significance | X | 136013391 | 136013391 | Human | | name |
| 596946011 | CV3550328 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1871C>G (p.Ser624Cys) | Christianson syndrome [RCV004818868] | uncertain significance | X | 136044555 | 136044555 | Human | 1 | name , alternate_id |
| 597833637 | CV3735655 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1231C>A (p.Pro411Thr) | not provided [RCV005063517] | uncertain significance | X | 136022622 | 136022622 | Human | | name |
| 597833736 | CV3735685 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1714C>A (p.Pro572Thr) | not provided [RCV005063547] | uncertain significance | X | 136040128 | 136040128 | Human | | name |
| 597957299 | CV3751403 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1940A>G (p.Asp647Gly) | Christianson syndrome [RCV005080708] | uncertain significance | X | 136044624 | 136044624 | Human | 1 | name , alternate_id |
| 597922514 | CV3781779 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1709C>T (p.Thr570Ile) | Christianson syndrome [RCV005130451] | uncertain significance | X | 136040123 | 136040123 | Human | 1 | name , alternate_id |
| 597932125 | CV3786130 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1186G>T (p.Gly396Ter) | Christianson syndrome [RCV005131838] | pathogenic | X | 136016750 | 136016750 | Human | 1 | name , alternate_id |
| 597974112 | CV3801751 | single nucleotide variant | NM_001379110.1(SLC9A6):c.2011T>G (p.Leu671Val) | Christianson syndrome [RCV005143740] | uncertain significance | X | 136044695 | 136044695 | Human | 1 | name , alternate_id |
| 616938161 | CV4013168 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1142T>C (p.Leu381Pro) | not provided [RCV005410635] | uncertain significance | X | 136016706 | 136016706 | Human | | name |
| 616936367 | CV4016405 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1574A>T (p.Glu525Val) | not provided [RCV005415271] | uncertain significance | X | 136030155 | 136030155 | Human | | name |
| 617150640 | CV4018895 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1772A>C (p.Gln591Pro) | not provided [RCV005423303] | uncertain significance | X | 136044456 | 136044456 | Human | | name |
| 617154232 | CV4022587 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1960G>C (p.Gly654Arg) | not provided [RCV005429944] | uncertain significance | X | 136044644 | 136044644 | Human | | name |
| 13612054 | CV514121 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) | Astigmatism [RCV000626738] | uncertain significance | X | 136016754 | 136016754 | Human | 2 | name |
| 13618638 | CV534533 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1873A>G (p.Ser625Gly) | Christianson syndrome [RCV000646195] | uncertain significance | X | 136044557 | 136044557 | Human | 1 | name , alternate_id |
| 13806594 | CV573553 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1316G>A (p.Gly439Asp) | Christianson syndrome [RCV000700654] | likely pathogenic|uncertain significance | X | 136024339 | 136024339 | Human | 1 | name , alternate_id |
| 21067960 | CV793874 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1599A>T (p.Glu533Asp) | Christianson syndrome [RCV003624436]|not provided [RCV000993017] | likely benign|uncertain significance | X | 136033431 | 136033431 | Human | 1 | name , alternate_id |
| 26899932 | CV849666 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1934T>G (p.Phe645Cys) | Christianson syndrome [RCV001035156] | uncertain significance | X | 136044618 | 136044618 | Human | 1 | name , alternate_id |
| 38492183 | CV929575 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser) | Christianson syndrome [RCV001223382] | uncertain significance | X | 136033414 | 136033414 | Human | 1 | name , alternate_id |
| 38478183 | CV929576 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser) | Christianson syndrome [RCV001216484]|not provided [RCV005232181] | uncertain significance | X | 136044680 | 136044680 | Human | 1 | name , alternate_id |
| 38468962 | CV939444 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser) | Christianson syndrome [RCV001213237]|not provided [RCV005253740] | uncertain significance | X | 136030136 | 136030136 | Human | 1 | name , alternate_id |
| 38477343 | CV951618 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu) | Christianson syndrome [RCV001233445] | uncertain significance | X | 136040141 | 136040141 | Human | 1 | name , alternate_id |
| 38486598 | CV951619 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile) | Christianson syndrome [RCV001237236] | uncertain significance | X | 136044516 | 136044516 | Human | 1 | name , alternate_id |
| 8574062 | CV97547 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter) | Christianson syndrome [RCV000077787] | pathogenic | X | 136030154 | 136030154 | Human | 1 | name , alternate_id |
| 126728712 | CV999622 | single nucleotide variant | NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys) | Christianson syndrome [RCV001303447]|not provided [RCV004720844] | uncertain significance | X | 136040179 | 136040179 | Human | 1 | name , alternate_id |
| 10398332 | CV203993 | microsatellite | NM_001379110.1(SLC9A6):c.797_798del (p.Thr266fs) | not provided [RCV000189424] | pathogenic | X | 136010493 | 136010494 | Human | | name |
| 8562508 | CV26518 | deletion | NM_001379110.1(SLC9A6):c.452_453del (p.His151fs) | Christianson syndrome [RCV000012234] | pathogenic | X | 135998486 | 135998487 | Human | 1 | name , alternate_id |
| 408379428 | CV3506954 | deletion | NM_001379110.1(SLC9A6):c.565_583del (p.Gly189fs) | SLC9A6-related disorder [RCV004728443] | likely pathogenic | X | 135998896 | 135998914 | Human | | name , trait , alternate_id |
| 14691471 | CV615978 | microsatellite | NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs) | Christianson syndrome [RCV000770998] | pathogenic | X | 135998156 | 135998157 | Human | | name , alternate_id |
| 21073814 | CV792124 | microsatellite | NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del) | Christianson syndrome [RCV000990950] | likely pathogenic | X | 136002161 | 136002163 | Human | | name , alternate_id |
| 155670760 | CV1832423 | microsatellite | NM_001379110.1(SLC9A6):c.1260AAG[1] (p.Arg421del) | Inborn genetic diseases [RCV002385721] | uncertain significance | X | 136022649 | 136022651 | Human | | name |
| 408394186 | CV3521776 | deletion | NM_001379110.1(SLC9A6):c.1625_1643del (p.Ala542fs) | Christianson syndrome [RCV004764575] | likely pathogenic | X | 136033454 | 136033472 | Human | 1 | name , alternate_id |
| 597942938 | CV3786338 | deletion | NM_001379110.1(SLC9A6):c.1418_1419del (p.Phe473fs) | Christianson syndrome [RCV005134029] | pathogenic | X | 136024440 | 136024441 | Human | 1 | name , alternate_id |
| 12894335 | CV411132 | deletion | NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs) | Christianson syndrome [RCV001251111]|Global developmental delay [RCV001004015]|not provided [RCV000482382] | pathogenic|likely pathogenic | X | 136016706 | 136016707 | Human | 8 | name , alternate_id |
| 21075053 | CV798807 | deletion | NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs) | Christianson syndrome [RCV000995874] | pathogenic | X | 136033429 | 136033433 | Human | 1 | name , alternate_id |
| 38489195 | CV929574 | microsatellite | NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs) | Christianson syndrome [RCV001221608] | pathogenic | X | 136022633 | 136022636 | Human | | name , alternate_id |
| 597650082 | CV3730463 | deletion | NM_001379110.1(SLC9A6):c.16_42del (p.Val6_Ser14del) | not provided [RCV005000752] | uncertain significance | X | 135985673 | 135985699 | Human | | name |
| 40814242 | CV967022 | indel | NM_001379110.1(SLC9A6):c.1195-4_1201delinsAGGTTGCTG | Intellectual disability [RCV001257722] | likely benign | X | 136022582 | 136022592 | Human | | name |
| 150557059 | CV1310388 | insertion | NM_001379110.1(SLC9A6):c.1423_1424insCA (p.Gly475fs) | Christianson syndrome [RCV001775316] | likely pathogenic | X | 136024446 | 136024447 | Human | 1 | name , alternate_id |
| 153349814 | CV1694003 | indel | NM_001379110.1(SLC9A6):c.442_444delinsC (p.Lys148fs) | not provided [RCV002276235] | likely pathogenic | X | 135998180 | 135998182 | Human | | name |
| 14707784 | CV649713 | deletion | NM_001379110.1(SLC9A6):c.71_88del (p.Ile24_Leu29del) | Christianson syndrome [RCV000808896] | uncertain significance | X | 135985722 | 135985739 | Human | 1 | name , alternate_id |
| 596945107 | CV3543720 | indel | NM_001379110.1(SLC9A6):c.841_842delinsAA (p.Gly281Lys) | not provided [RCV004801842] | uncertain significance | X | 136010539 | 136010540 | Human | | name |
| 596926790 | CV3530921 | indel | NM_001379110.1(SLC9A6):c.937_939delinsCTG (p.Phe313Leu) | not provided [RCV004778506] | uncertain significance | X | 136013000 | 136013002 | Human | | name |
| 8562506 | CV26515 | deletion | NM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del) | Christianson syndrome [RCV000012231] | pathogenic | X | 136002171 | 136002176 | Human | 1 | name , alternate_id |
| 8568024 | CV38904 | deletion | NM_001379110.1(SLC9A6):c.856_864del (p.Gly286_Ala288del) | Christianson syndrome [RCV000022841] | pathogenic | X | 136010554 | 136010562 | Human | 1 | name , alternate_id |
| 13489852 | CV446505 | indel | NM_001379110.1(SLC9A6):c.1224_1230delinsGTCTTGGGAAGAGCT (p.Asn408fs) | not provided [RCV000524019] | pathogenic | X | 136022615 | 136022621 | Human | | name |
| 126771903 | CV1001914 | duplication | NC_000023.10:g.(?_135067642)_(135106662_?)dup | Christianson syndrome [RCV001323426] | uncertain significance | | | | Human | | alternate_id |
| 126756176 | CV1022433 | duplication | NC_000023.10:g.(?_135080257)_(135292184_?)dup | Christianson syndrome [RCV001339208] | uncertain significance | | | | Human | 1 | alternate_id |
| 127262411 | CV1058183 | deletion | NC_000023.10:g.(?_135104735)_(135106652_?)del | Christianson syndrome [RCV001387709] | pathogenic | | | | Human | 1 | alternate_id |
| 151890220 | CV1447981 | duplication | NC_000023.10:g.(?_135067662)_(135068006_?)dup | Christianson syndrome [RCV001942982] | uncertain significance | | | | Human | 1 | alternate_id |
| 151838460 | CV1490938 | deletion | NC_000023.10:g.(?_135067662)_(136652229_?)del | Christianson syndrome [RCV003107929]|Heterotaxy, visceral, 1, X-linked [RCV001956452]|Hyper-IgM syndrome type 1 [RCV001956451] | pathogenic | | | | Human | 3 | alternate_id |
| 156439540 | CV1943306 | deletion | NC_000023.10:g.(?_135104725)_(135106662_?)del | Christianson syndrome [RCV003109506] | pathogenic | | | | Human | 1 | alternate_id |
| 156439541 | CV1943307 | duplication | NC_000023.10:g.(?_135080247)_(135126903_?)dup | Christianson syndrome [RCV003109507] | uncertain significance | | | | Human | 1 | alternate_id |
| 156439542 | CV1943308 | deletion | NC_000023.10:g.(?_135104725)_(135104876_?)del | Christianson syndrome [RCV003109508] | pathogenic | | | | Human | 1 | alternate_id |
| 11522953 | CV245213 | deletion | NM_001042537:c.916delC | Christianson syndrome [RCV000236651] | pathogenic | | | | Human | 1 | alternate_id |
| 405876963 | CV3406452 | deletion | NC_000023.10:g.(?_135067662)_(135126883_?)del | Christianson syndrome [RCV004581980] | pathogenic | | | | Human | 1 | alternate_id |
| 405876972 | CV3406461 | deletion | NC_000023.10:g.(?_135112271)_(135112341_?)del | Christianson syndrome [RCV004581989] | pathogenic | | | | Human | 1 | alternate_id |
| 405876982 | CV3406471 | duplication | NC_000023.10:g.(?_135067662)_(135126883_?)dup | Christianson syndrome [RCV004581999] | uncertain significance | | | | Human | 1 | alternate_id |
| 405877023 | CV3406483 | duplication | NC_000023.10:g.(?_135067662)_(135084392_?)dup | Christianson syndrome [RCV004582011] | uncertain significance | | | | Human | 1 | alternate_id |
| 405876994 | CV3406494 | duplication | NC_000023.10:g.(?_135080247)_(135084392_?)dup | Christianson syndrome [RCV004582022] | likely pathogenic | | | | Human | 1 | alternate_id |
| 26891742 | CV821559 | duplication | NC_000023.11:g.(?_135985483)_(136024503_?)dup | Christianson syndrome [RCV001032238] | uncertain significance | | | | Human | 1 | alternate_id |