| 150457654 | CV1237104 | single nucleotide variant | NM_015375.3(DSTYK):c.*51T>A | not provided [RCV001648783] | benign | 1 | 205147507 | 205147507 | Human | | name |
| 156313777 | CV1896673 | single nucleotide variant | NM_015375.3(DSTYK):c.654+7A>G | not provided [RCV003088599] | likely benign | 1 | 205187411 | 205187411 | Human | | name |
| 408387215 | CV3524451 | single nucleotide variant | NM_015375.3(DSTYK):c.265+2T>C | not provided [RCV004768325] | uncertain significance | 1 | 205211269 | 205211269 | Human | | name |
| 8572595 | CV75258 | single nucleotide variant | NM_015375.3(DSTYK):c.654+1G>A | Congenital anomalies of kidney and urinary tract 1 [RCV000054497]|DSTYK-related disorder [RCV003905015]|Hereditary spastic paraplegia 23 [RCV003387748]|not provided [RCV001853078] | pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance | 1 | 205187417 | 205187417 | Human | 2 | name , trait , alternate_id |
| 8572597 | CV75260 | single nucleotide variant | NM_015375.3(DSTYK):c.655-3C>T | Congenital anomalies of kidney and urinary tract 1 [RCV000054499]|not provided [RCV000903924] | pathogenic|risk factor|likely benign | 1 | 205169835 | 205169835 | Human | 1 | name |
| 34891872 | CV904378 | single nucleotide variant | NM_015375.3(DSTYK):c.655-8C>T | not provided [RCV001172225] | benign|likely benign | 1 | 205169840 | 205169840 | Human | | name |
| 150506021 | CV1254766 | single nucleotide variant | NM_015375.3(DSTYK):c.655-30C>T | not provided [RCV001678071] | benign | 1 | 205169862 | 205169862 | Human | | name |
| 152149053 | CV1566442 | single nucleotide variant | NM_015375.3(DSTYK):c.265+10G>A | not provided [RCV002139240] | likely benign | 1 | 205211261 | 205211261 | Human | | name |
| 12791319 | CV226074 | single nucleotide variant | NM_015375.3(DSTYK):c.1819-3C>T | Congenital anomalies of kidney and urinary tract 1 [RCV000416578]|not provided [RCV000996114] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 205161390 | 205161390 | Human | 1 | name |
| 405249626 | CV3000808 | single nucleotide variant | NM_015375.3(DSTYK):c.2467+6G>A | not provided [RCV003721396] | uncertain significance | 1 | 205150674 | 205150674 | Human | | name |
| 405205191 | CV3117048 | single nucleotide variant | NM_015375.3(DSTYK):c.655-16C>T | not provided [RCV003822532] | likely benign | 1 | 205169848 | 205169848 | Human | | name |
| 405142268 | CV3125971 | single nucleotide variant | NM_015375.3(DSTYK):c.266-17T>C | not provided [RCV003816887] | likely benign | 1 | 205187823 | 205187823 | Human | | name |
| 597874598 | CV3836323 | single nucleotide variant | NM_015375.3(DSTYK):c.2468-4T>C | not provided [RCV005177120] | likely benign | 1 | 205148343 | 205148343 | Human | | name |
| 13528285 | CV498196 | single nucleotide variant | NM_015375.3(DSTYK):c.2106-7C>T | DSTYK-related disorder [RCV003962823]|not provided [RCV002528679]|not specified [RCV000605433] | likely benign | 1 | 205159686 | 205159686 | Human | 1 | name , trait , alternate_id |
| 15192325 | CV729956 | single nucleotide variant | NM_015375.3(DSTYK):c.1557+9A>C | not provided [RCV000888632] | benign | 1 | 205163714 | 205163714 | Human | | name |
| 150474812 | CV1217857 | single nucleotide variant | NM_015375.3(DSTYK):c.2353-59G>A | not provided [RCV001615868] | benign | 1 | 205150853 | 205150853 | Human | | name |
| 150513948 | CV1227980 | single nucleotide variant | NM_015375.3(DSTYK):c.266-174T>C | not provided [RCV001638258] | benign | 1 | 205187980 | 205187980 | Human | | name |
| 150466730 | CV1240459 | single nucleotide variant | NM_015375.3(DSTYK):c.1325-86A>G | not provided [RCV001650220] | benign | 1 | 205164041 | 205164041 | Human | | name |
| 150445179 | CV1249534 | single nucleotide variant | NM_015375.3(DSTYK):c.266-166A>G | not provided [RCV001666967] | benign | 1 | 205187972 | 205187972 | Human | | name |
| 152043146 | CV1522346 | single nucleotide variant | NM_015375.3(DSTYK):c.2105+10G>A | not provided [RCV002088222] | benign | 1 | 205160104 | 205160104 | Human | | name |
| 152072021 | CV1544117 | single nucleotide variant | NM_015375.3(DSTYK):c.1558-14G>A | not provided [RCV002169422] | likely benign | 1 | 205163020 | 205163020 | Human | | name |
| 152149834 | CV1545466 | single nucleotide variant | NM_015375.3(DSTYK):c.2239-18C>G | not provided [RCV002121587] | likely benign | 1 | 205157404 | 205157404 | Human | | name |
| 152049568 | CV1656246 | single nucleotide variant | NM_015375.3(DSTYK):c.2106-12C>T | not provided [RCV002207346] | likely benign | 1 | 205159691 | 205159691 | Human | | name |
| 156135355 | CV2048039 | single nucleotide variant | NM_015375.3(DSTYK):c.1642-20C>T | not provided [RCV002800762] | benign | 1 | 205162232 | 205162232 | Human | | name |
| 156087799 | CV2080126 | single nucleotide variant | NM_015375.3(DSTYK):c.2106-12C>A | not provided [RCV002847606] | likely benign | 1 | 205159691 | 205159691 | Human | | name |
| 405116507 | CV3019404 | duplication | NM_015375.3(DSTYK):c.1948+19dup | not provided [RCV003700198] | likely benign | 1 | 205161238 | 205161239 | Human | | name |
| 405183290 | CV3123990 | single nucleotide variant | NM_015375.3(DSTYK):c.1949-19C>G | not provided [RCV003820186] | likely benign | 1 | 205160289 | 205160289 | Human | | name |
| 405163741 | CV3160375 | single nucleotide variant | NM_015375.3(DSTYK):c.1641+16T>C | not provided [RCV003857254] | likely benign | 1 | 205162907 | 205162907 | Human | | name |
| 597839714 | CV3737063 | single nucleotide variant | NM_015375.3(DSTYK):c.2602+14G>A | not provided [RCV005064543] | likely benign | 1 | 205148191 | 205148191 | Human | | name |
| 616936660 | CV4016459 | single nucleotide variant | NM_015375.3(DSTYK):c.1819-18T>A | Congenital anomalies of kidney and urinary tract 1 [RCV005415321] | uncertain significance | 1 | 205161405 | 205161405 | Human | 1 | name |
| 8575505 | CV109852 | single nucleotide variant | NM_015375.2(DSTYK):c.266-3598C>A | Lung cancer [RCV000090377] | uncertain significance | 1 | 205191404 | 205191404 | Human | | name |
| 150502595 | CV1212272 | duplication | NM_015375.3(DSTYK):c.2603-181dup | not provided [RCV001595145] | benign | 1 | 205147915 | 205147916 | Human | | name |
| 150473179 | CV1217586 | single nucleotide variant | NM_015375.3(DSTYK):c.2239-205G>T | not provided [RCV001615597] | benign | 1 | 205157591 | 205157591 | Human | 1 | name |
| 150430514 | CV1230917 | single nucleotide variant | NM_015375.3(DSTYK):c.1557+220C>T | not provided [RCV001641466] | benign | 1 | 205163503 | 205163503 | Human | | name |
| 150460895 | CV1231407 | single nucleotide variant | NM_015375.3(DSTYK):c.2467+227G>A | not provided [RCV001640972] | benign | 1 | 205150453 | 205150453 | Human | | name |
| 150476732 | CV1251907 | single nucleotide variant | NM_015375.3(DSTYK):c.1558-244T>C | not provided [RCV001672106] | benign | 1 | 205163250 | 205163250 | Human | | name |
| 150463869 | CV1263869 | duplication | NM_015375.3(DSTYK):c.1558-224dup | not provided [RCV001682570] | benign | 1 | 205163219 | 205163220 | Human | | name |
| 150442753 | CV1287776 | deletion | NM_015375.3(DSTYK):c.2467+245del | not provided [RCV001725497] | benign | 1 | 205150435 | 205150435 | Human | | name |
| 150441234 | CV1246702 | microsatellite | NM_015375.3(DSTYK):c.1818+95GT[6] | not provided [RCV001666356] | benign | 1 | 205161931 | 205161932 | Human | | name |
| 156331865 | CV2112743 | single nucleotide variant | NM_015375.3(DSTYK):c.60C>G (p.Gly20=) | not provided [RCV002938414] | likely benign | 1 | 205211476 | 205211476 | Human | | name |
| 405175899 | CV3023708 | single nucleotide variant | NM_015375.3(DSTYK):c.63C>A (p.Gly21=) | not provided [RCV003705087] | likely benign | 1 | 205211473 | 205211473 | Human | | name |
| 597904376 | CV3784645 | single nucleotide variant | NM_015375.3(DSTYK):c.60C>T (p.Gly20=) | not provided [RCV005127696] | likely benign | 1 | 205211476 | 205211476 | Human | | name |
| 15133021 | CV732044 | single nucleotide variant | NM_015375.3(DSTYK):c.42G>C (p.Ser14=) | not provided [RCV000898060] | benign | 1 | 205211494 | 205211494 | Human | | name |
| 156419441 | CV1967063 | single nucleotide variant | NM_015375.3(DSTYK):c.144C>G (p.Thr48=) | not provided [RCV002612675] | likely benign | 1 | 205211392 | 205211392 | Human | | name |
| 156415764 | CV1987496 | single nucleotide variant | NM_015375.3(DSTYK):c.117A>T (p.Gly39=) | not provided [RCV002609823] | likely benign | 1 | 205211419 | 205211419 | Human | | name |
| 156385687 | CV2364540 | single nucleotide variant | NM_015375.3(DSTYK):c.22T>G (p.Trp8Gly) | not provided [RCV005099074]|not specified [RCV004217399] | uncertain significance | 1 | 205211514 | 205211514 | Human | | name |
| 405073476 | CV2873040 | single nucleotide variant | NM_015375.3(DSTYK):c.213C>G (p.Gly71=) | not provided [RCV003548673] | likely benign | 1 | 205211323 | 205211323 | Human | | name |
| 405194865 | CV3066394 | single nucleotide variant | NM_015375.3(DSTYK):c.186T>C (p.Thr62=) | not provided [RCV003730003] | likely benign | 1 | 205211350 | 205211350 | Human | | name |
| 405293977 | CV3203304 | single nucleotide variant | NM_015375.3(DSTYK):c.165C>T (p.Ile55=) | DSTYK-related disorder [RCV003933864] | likely benign | 1 | 205211371 | 205211371 | Human | | name , trait , alternate_id |
| 597905572 | CV3846568 | single nucleotide variant | NM_015375.3(DSTYK):c.17T>C (p.Val6Ala) | not provided [RCV005181995]|not specified [RCV005326044] | uncertain significance | 1 | 205211519 | 205211519 | Human | | name |
| 15111442 | CV707022 | single nucleotide variant | NM_015375.3(DSTYK):c.120G>T (p.Arg40=) | not provided [RCV000961107] | benign|likely benign | 1 | 205211416 | 205211416 | Human | | name |
| 15129496 | CV732043 | single nucleotide variant | NM_015375.3(DSTYK):c.192C>T (p.Leu64=) | not provided [RCV000897450] | likely benign | 1 | 205211344 | 205211344 | Human | | name |
| 8572596 | CV75259 | single nucleotide variant | NM_015375.3(DSTYK):c.24G>A (p.Trp8Ter) | Congenital anomalies of kidney and urinary tract 1 [RCV000054498] | pathogenic|risk factor | 1 | 205211512 | 205211512 | Human | 1 | name |
| 152061184 | CV1558335 | single nucleotide variant | NM_015375.3(DSTYK):c.528G>A (p.Thr176=) | not provided [RCV002128361] | likely benign | 1 | 205187544 | 205187544 | Human | | name |
| 152047330 | CV1580340 | single nucleotide variant | NM_015375.3(DSTYK):c.399G>C (p.Gly133=) | not provided [RCV002166427] | likely benign | 1 | 205187673 | 205187673 | Human | | name |
| 152059364 | CV1595953 | single nucleotide variant | NM_015375.3(DSTYK):c.579G>A (p.Glu193=) | not provided [RCV002090066] | likely benign | 1 | 205187493 | 205187493 | Human | | name |
| 156261792 | CV1902727 | single nucleotide variant | NM_015375.3(DSTYK):c.894C>T (p.Ser298=) | not provided [RCV003086466] | likely benign | 1 | 205169593 | 205169593 | Human | | name |
| 156318107 | CV1920837 | single nucleotide variant | NM_015375.3(DSTYK):c.379C>T (p.Leu127=) | not provided [RCV002600068] | likely benign | 1 | 205187693 | 205187693 | Human | | name |
| 156387811 | CV1955030 | single nucleotide variant | NM_015375.3(DSTYK):c.46C>T (p.Pro16Ser) | not provided [RCV002583619] | uncertain significance | 1 | 205211490 | 205211490 | Human | | name |
| 156313053 | CV2120142 | single nucleotide variant | NM_015375.3(DSTYK):c.35C>T (p.Pro12Leu) | not provided [RCV002962730]|not specified [RCV004068300] | uncertain significance | 1 | 205211501 | 205211501 | Human | | name |
| 156040522 | CV2130509 | single nucleotide variant | NM_015375.3(DSTYK):c.846G>A (p.Pro282=) | not provided [RCV002949602]|not specified [RCV004068310] | likely benign | 1 | 205169641 | 205169641 | Human | | name |
| 156000793 | CV2159498 | single nucleotide variant | NM_015375.3(DSTYK):c.77A>T (p.Glu26Val) | not provided [RCV003017262] | uncertain significance | 1 | 205211459 | 205211459 | Human | | name |
| 156205417 | CV2160072 | single nucleotide variant | NM_015375.3(DSTYK):c.59G>A (p.Gly20Asp) | not provided [RCV003042130] | uncertain significance | 1 | 205211477 | 205211477 | Human | | name |
| 12791327 | CV226078 | single nucleotide variant | NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu) | Congenital anomalies of kidney and urinary tract 1 [RCV000416593]|DSTYK-related disorder [RCV003947685]|not provided [RCV002057056] | benign|likely benign|uncertain significance | 1 | 205211483 | 205211483 | Human | 2 | name , trait , alternate_id |
| 155943648 | CV2294795 | single nucleotide variant | NM_015375.3(DSTYK):c.76G>C (p.Glu26Gln) | not specified [RCV004162309] | uncertain significance | 1 | 205211460 | 205211460 | Human | | name |
| 156012472 | CV2358908 | single nucleotide variant | NM_015375.3(DSTYK):c.95G>A (p.Gly32Asp) | Hereditary spastic paraplegia 23 [RCV005021750]|not provided [RCV003561152]|not specified [RCV004212247] | uncertain significance | 1 | 205211441 | 205211441 | Human | 1 | name |
| 401877505 | CV2790193 | single nucleotide variant | NM_015375.3(DSTYK):c.56G>A (p.Gly19Asp) | not specified [RCV004364115] | uncertain significance | 1 | 205211480 | 205211480 | Human | | name |
| 401936726 | CV2815994 | single nucleotide variant | NM_015375.3(DSTYK):c.771C>T (p.Leu257=) | not provided [RCV003414720] | likely benign | 1 | 205169716 | 205169716 | Human | | name |
| 405101505 | CV2948226 | single nucleotide variant | NM_015375.3(DSTYK):c.417C>G (p.Thr139=) | not provided [RCV003666173] | likely benign | 1 | 205187655 | 205187655 | Human | | name |
| 405095483 | CV3148002 | single nucleotide variant | NM_015375.3(DSTYK):c.618G>A (p.Ala206=) | not provided [RCV003852632] | likely benign | 1 | 205187454 | 205187454 | Human | | name |
| 405732703 | CV3244894 | single nucleotide variant | NM_015375.3(DSTYK):c.31G>C (p.Glu11Gln) | not specified [RCV004379437] | uncertain significance | 1 | 205211505 | 205211505 | Human | | name |
| 405732721 | CV3244896 | single nucleotide variant | NM_015375.3(DSTYK):c.43G>T (p.Gly15Cys) | not specified [RCV004379439] | uncertain significance | 1 | 205211493 | 205211493 | Human | | name |
| 407489801 | CV3430991 | single nucleotide variant | NM_015375.3(DSTYK):c.46C>G (p.Pro16Ala) | not specified [RCV004620035] | uncertain significance | 1 | 205211490 | 205211490 | Human | | name |
| 597733851 | CV3715009 | single nucleotide variant | NM_015375.3(DSTYK):c.55G>A (p.Gly19Ser) | Hereditary spastic paraplegia 23 [RCV005012208] | uncertain significance | 1 | 205211481 | 205211481 | Human | 1 | name |
| 597832244 | CV3740150 | single nucleotide variant | NM_015375.3(DSTYK):c.939G>T (p.Leu313=) | not provided [RCV005062849] | likely benign | 1 | 205169548 | 205169548 | Human | | name |
| 597838405 | CV3824803 | single nucleotide variant | NM_015375.3(DSTYK):c.366C>T (p.Asn122=) | not provided [RCV005171667] | likely benign | 1 | 205187706 | 205187706 | Human | | name |
| 597930902 | CV3837631 | single nucleotide variant | NM_015375.3(DSTYK):c.498G>A (p.Ala166=) | not provided [RCV005185791] | likely benign | 1 | 205187574 | 205187574 | Human | | name |
| 15116761 | CV743701 | deletion | NM_015375.3(DSTYK):c.1949-11_1949-10del | not provided [RCV000895259] | likely benign | 1 | 205160280 | 205160281 | Human | | name |
| 8572598 | CV75261 | single nucleotide variant | NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) | Congenital anomalies of kidney and urinary tract 1 [RCV000054500]|not provided [RCV000902729]|not specified [RCV001170058] | pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity | 1 | 205211450 | 205211450 | Human | 1 | name |
| 126732688 | CV1000179 | single nucleotide variant | NM_015375.3(DSTYK):c.257T>A (p.Leu86Gln) | not provided [RCV001310895] | uncertain significance | 1 | 205211279 | 205211279 | Human | | name |
| 150450599 | CV1260976 | single nucleotide variant | NM_015375.3(DSTYK):c.190C>T (p.Leu64Phe) | not provided [RCV001680645] | benign | 1 | 205211346 | 205211346 | Human | | name |
| 152135402 | CV1571915 | single nucleotide variant | NM_015375.3(DSTYK):c.1384C>A (p.Arg462=) | not provided [RCV002177357] | benign | 1 | 205163896 | 205163896 | Human | | name |
| 152048584 | CV1623026 | single nucleotide variant | NM_015375.3(DSTYK):c.2604G>C (p.Gly868=) | not provided [RCV002126946] | likely benign | 1 | 205147744 | 205147744 | Human | | name |
| 156221656 | CV1879318 | single nucleotide variant | NM_015375.3(DSTYK):c.187T>G (p.Cys63Gly) | not provided [RCV003058963] | uncertain significance | 1 | 205211349 | 205211349 | Human | | name |
| 156440781 | CV1940502 | single nucleotide variant | NM_015375.3(DSTYK):c.171C>G (p.Cys57Trp) | not provided [RCV003110821] | uncertain significance | 1 | 205211365 | 205211365 | Human | | name |
| 155906336 | CV1972155 | single nucleotide variant | NM_015375.3(DSTYK):c.2349G>T (p.Val783=) | not provided [RCV002613695] | likely benign | 1 | 205157276 | 205157276 | Human | | name |
| 156348673 | CV2005412 | single nucleotide variant | NM_015375.3(DSTYK):c.187T>A (p.Cys63Ser) | not provided [RCV002650717] | uncertain significance | 1 | 205211349 | 205211349 | Human | | name |
| 155958818 | CV2029732 | single nucleotide variant | NM_015375.3(DSTYK):c.1335C>T (p.Val445=) | not provided [RCV002731074] | likely benign | 1 | 205163945 | 205163945 | Human | | name |
| 156336363 | CV2057791 | single nucleotide variant | NM_015375.3(DSTYK):c.1002G>A (p.Val334=) | not provided [RCV002810962] | likely benign | 1 | 205169485 | 205169485 | Human | | name |
| 156236420 | CV2108866 | single nucleotide variant | NM_015375.3(DSTYK):c.2115G>A (p.Pro705=) | not provided [RCV002933038] | likely benign | 1 | 205159670 | 205159670 | Human | | name |
| 156354488 | CV2119033 | single nucleotide variant | NM_015375.3(DSTYK):c.211G>A (p.Gly71Ser) | DSTYK-related disorder [RCV003961290]|not provided [RCV002966552]|not specified [RCV004617128] | likely benign|uncertain significance | 1 | 205211325 | 205211325 | Human | 1 | name , trait , alternate_id |
| 156268188 | CV2135141 | single nucleotide variant | NM_015375.3(DSTYK):c.1794G>A (p.Glu598=) | not provided [RCV002988723] | likely benign | 1 | 205162060 | 205162060 | Human | | name |
| 156238154 | CV2154508 | single nucleotide variant | NM_015375.3(DSTYK):c.217G>A (p.Ala73Thr) | not provided [RCV003025905] | uncertain significance | 1 | 205211319 | 205211319 | Human | | name |
| 243058188 | CV2412329 | single nucleotide variant | NM_015375.3(DSTYK):c.1137C>T (p.Asp379=) | not provided [RCV003146871] | uncertain significance | 1 | 205169350 | 205169350 | Human | | name |
| 243053283 | CV2416295 | single nucleotide variant | NM_015375.3(DSTYK):c.178A>G (p.Asn60Asp) | not provided [RCV003149356]|not specified [RCV004246163] | uncertain significance | 1 | 205211358 | 205211358 | Human | | name |
| 11549013 | CV249674 | single nucleotide variant | NM_015375.3(DSTYK):c.2028C>T (p.Phe676=) | Congenital anomalies of kidney and urinary tract 1 [RCV001660330]|Hereditary spastic paraplegia 23 [RCV001660331]|not provided [RCV001675740]|not specified [RCV000249856] | benign | 1 | 205160191 | 205160191 | Human | 2 | name |
| 401936727 | CV2815995 | single nucleotide variant | NM_015375.3(DSTYK):c.103C>T (p.Arg35Cys) | not provided [RCV003414721] | uncertain significance | 1 | 205211433 | 205211433 | Human | | name |
| 402496146 | CV2883783 | single nucleotide variant | NM_015375.3(DSTYK):c.1773T>A (p.Thr591=) | not provided [RCV003573461] | likely benign | 1 | 205162081 | 205162081 | Human | | name |
| 405220644 | CV2884304 | single nucleotide variant | NM_015375.3(DSTYK):c.1188A>G (p.Lys396=) | not provided [RCV003553830] | likely benign | 1 | 205169299 | 205169299 | Human | | name |
| 405027138 | CV2890004 | single nucleotide variant | NM_015375.3(DSTYK):c.1374A>G (p.Lys458=) | not provided [RCV003578063] | likely benign | 1 | 205163906 | 205163906 | Human | | name |
| 405182307 | CV2909644 | single nucleotide variant | NM_015375.3(DSTYK):c.226G>T (p.Gly76Cys) | not provided [RCV003564101] | uncertain significance | 1 | 205211310 | 205211310 | Human | | name |
| 405232333 | CV2965168 | single nucleotide variant | NM_015375.3(DSTYK):c.1203G>A (p.Leu401=) | not provided [RCV003682467] | likely benign | 1 | 205169284 | 205169284 | Human | | name |
| 405137884 | CV3019524 | single nucleotide variant | NM_015375.3(DSTYK):c.2673C>T (p.Gly891=) | not provided [RCV003702254] | likely benign | 1 | 205147675 | 205147675 | Human | | name |
| 405253695 | CV3054267 | single nucleotide variant | NM_015375.3(DSTYK):c.1791C>T (p.His597=) | DSTYK-related disorder [RCV003909102]|not provided [RCV003722557] | likely benign | 1 | 205162063 | 205162063 | Human | 1 | name , trait , alternate_id |
| 405006997 | CV3117565 | single nucleotide variant | NM_015375.3(DSTYK):c.1464G>A (p.Arg488=) | not provided [RCV003828620] | likely benign | 1 | 205163816 | 205163816 | Human | | name |
| 405175947 | CV3119262 | single nucleotide variant | NM_015375.3(DSTYK):c.2148A>G (p.Ser716=) | not provided [RCV003819547] | likely benign | 1 | 205159637 | 205159637 | Human | | name |
| 405202622 | CV3143676 | single nucleotide variant | NM_015375.3(DSTYK):c.2718C>T (p.Leu906=) | not provided [RCV003844662] | likely benign | 1 | 205147630 | 205147630 | Human | | name |
| 405253917 | CV3174888 | single nucleotide variant | NM_015375.3(DSTYK):c.1632A>G (p.Gln544=) | not provided [RCV003871339] | likely benign | 1 | 205162932 | 205162932 | Human | | name |
| 405288609 | CV3193716 | single nucleotide variant | NM_015375.3(DSTYK):c.2700C>T (p.Gly900=) | DSTYK-related disorder [RCV003982722] | uncertain significance | 1 | 205147648 | 205147648 | Human | | name , trait , alternate_id |
| 405285531 | CV3212629 | single nucleotide variant | NM_015375.3(DSTYK):c.1677C>G (p.Ala559=) | DSTYK-related disorder [RCV003959189] | likely benign | 1 | 205162177 | 205162177 | Human | | name , trait , alternate_id |
| 405715668 | CV3244886 | single nucleotide variant | NM_015375.3(DSTYK):c.110A>C (p.Tyr37Ser) | not specified [RCV004377355] | uncertain significance | 1 | 205211426 | 205211426 | Human | | name |
| 407489787 | CV3430988 | single nucleotide variant | NM_015375.3(DSTYK):c.133C>G (p.Leu45Val) | not specified [RCV004620032] | uncertain significance | 1 | 205211403 | 205211403 | Human | | name |
| 597682890 | CV3673794 | single nucleotide variant | NM_015375.3(DSTYK):c.165C>G (p.Ile55Met) | not provided [RCV005110206]|not specified [RCV004914501] | uncertain significance | 1 | 205211371 | 205211371 | Human | | name |
| 597917016 | CV3737464 | single nucleotide variant | NM_015375.3(DSTYK):c.1476C>T (p.Val492=) | not provided [RCV005074253] | likely benign | 1 | 205163804 | 205163804 | Human | | name |
| 597830856 | CV3743588 | single nucleotide variant | NM_015375.3(DSTYK):c.160G>C (p.Asp54His) | not provided [RCV005062405] | uncertain significance | 1 | 205211376 | 205211376 | Human | | name |
| 597929269 | CV3749235 | single nucleotide variant | NM_015375.3(DSTYK):c.206G>A (p.Gly69Asp) | not provided [RCV005075691] | uncertain significance | 1 | 205211330 | 205211330 | Human | | name |
| 597966478 | CV3751588 | single nucleotide variant | NM_015375.3(DSTYK):c.1758C>T (p.Cys586=) | not provided [RCV005082958] | likely benign | 1 | 205162096 | 205162096 | Human | | name |
| 597930769 | CV3827008 | single nucleotide variant | NM_015375.3(DSTYK):c.2301C>T (p.Phe767=) | not provided [RCV005157021] | likely benign | 1 | 205157324 | 205157324 | Human | | name |
| 616938780 | CV4015835 | deletion | NM_015375.3(DSTYK):c.889del (p.Glu297fs) | Congenital anomalies of kidney and urinary tract 1 [RCV005414387] | likely pathogenic | 1 | 205169598 | 205169598 | Human | 1 | name |
| 15111437 | CV707021 | single nucleotide variant | NM_015375.3(DSTYK):c.1542T>C (p.Ser514=) | not provided [RCV000961106] | benign|likely benign | 1 | 205163738 | 205163738 | Human | | name |
| 15112745 | CV718564 | single nucleotide variant | NM_015375.3(DSTYK):c.1677C>T (p.Ala559=) | not provided [RCV000894529] | benign | 1 | 205162177 | 205162177 | Human | | name |
| 15192329 | CV718565 | single nucleotide variant | NM_015375.3(DSTYK):c.1209A>G (p.Glu403=) | not provided [RCV000888633] | benign | 1 | 205169278 | 205169278 | Human | | name |
| 15149627 | CV746019 | single nucleotide variant | NM_015375.3(DSTYK):c.1731C>T (p.Ser577=) | DSTYK-related disorder [RCV003960417]|not provided [RCV000923321] | benign|likely benign | 1 | 205162123 | 205162123 | Human | 1 | name , trait , alternate_id |
| 15139864 | CV780457 | single nucleotide variant | NM_015375.3(DSTYK):c.1476C>G (p.Val492=) | not provided [RCV000982711] | likely benign | 1 | 205163804 | 205163804 | Human | | name |
| 151348560 | CV1324093 | duplication | NM_015375.3(DSTYK):c.1053dup (p.Gln352fs) | Congenital anomalies of kidney and urinary tract 1 [RCV001808006] | likely pathogenic | 1 | 205169433 | 205169434 | Human | 1 | name |
| 151810135 | CV1460044 | single nucleotide variant | NM_015375.3(DSTYK):c.617C>T (p.Ala206Val) | not provided [RCV002048776]|not specified [RCV004044792] | uncertain significance | 1 | 205187455 | 205187455 | Human | | name |
| 151875450 | CV1466798 | deletion | NM_015375.3(DSTYK):c.1238del (p.Gln413fs) | not provided [RCV001885801] | uncertain significance | 1 | 205169249 | 205169249 | Human | | name |
| 152054827 | CV1637149 | single nucleotide variant | NM_015375.3(DSTYK):c.983A>C (p.Lys328Thr) | DSTYK-related disorder [RCV003933355]|not provided [RCV002207952] | likely benign | 1 | 205169504 | 205169504 | Human | 1 | name , trait , alternate_id |
| 153348709 | CV1692753 | single nucleotide variant | NM_015375.3(DSTYK):c.971G>A (p.Gly324Asp) | not provided [RCV002274609] | uncertain significance | 1 | 205169516 | 205169516 | Human | | name |
| 155265394 | CV1704774 | single nucleotide variant | NM_015375.3(DSTYK):c.623T>C (p.Leu208Pro) | Hereditary spastic paraplegia 23 [RCV002285000] | pathogenic|uncertain significance | 1 | 205187449 | 205187449 | Human | 1 | name |
| 155951175 | CV1921963 | single nucleotide variant | NM_015375.3(DSTYK):c.732C>G (p.Phe244Leu) | not provided [RCV002616231] | uncertain significance | 1 | 205169755 | 205169755 | Human | | name |
| 156134379 | CV1962849 | single nucleotide variant | NM_015375.3(DSTYK):c.941G>A (p.Ser314Asn) | not provided [RCV002572344] | uncertain significance | 1 | 205169546 | 205169546 | Human | | name |
| 156282381 | CV2016408 | single nucleotide variant | NM_015375.3(DSTYK):c.857C>G (p.Ser286Trp) | not provided [RCV002715344] | uncertain significance | 1 | 205169630 | 205169630 | Human | | name |
| 156239616 | CV2129465 | single nucleotide variant | NM_015375.3(DSTYK):c.569A>C (p.Glu190Ala) | not provided [RCV002958820]|not specified [RCV004068205] | uncertain significance | 1 | 205187503 | 205187503 | Human | | name |
| 156338802 | CV2178430 | single nucleotide variant | NM_015375.3(DSTYK):c.431G>C (p.Ser144Thr) | not provided [RCV003047628] | uncertain significance | 1 | 205187641 | 205187641 | Human | | name |
| 155923271 | CV2215552 | single nucleotide variant | NM_015375.3(DSTYK):c.661G>A (p.Asp221Asn) | not specified [RCV004089325] | uncertain significance | 1 | 205169826 | 205169826 | Human | | name |
| 12791317 | CV226077 | single nucleotide variant | NM_015375.3(DSTYK):c.358G>A (p.Asp120Asn) | Congenital anomalies of kidney and urinary tract 1 [RCV000416576] | uncertain significance | 1 | 205187714 | 205187714 | Human | 1 | name |
| 156155334 | CV2266134 | single nucleotide variant | NM_015375.3(DSTYK):c.905C>A (p.Pro302Gln) | not specified [RCV004128722] | uncertain significance | 1 | 205169582 | 205169582 | Human | | name |
| 156261537 | CV2287505 | single nucleotide variant | NM_015375.3(DSTYK):c.644C>T (p.Ala215Val) | not specified [RCV004140966] | uncertain significance | 1 | 205187428 | 205187428 | Human | | name |
| 243058186 | CV2412328 | single nucleotide variant | NM_015375.3(DSTYK):c.905C>T (p.Pro302Leu) | not provided [RCV003146870] | uncertain significance | 1 | 205169582 | 205169582 | Human | | name |
| 401777363 | CV2721691 | single nucleotide variant | NM_015375.3(DSTYK):c.886A>G (p.Met296Val) | not specified [RCV004316174] | uncertain significance | 1 | 205169601 | 205169601 | Human | | name |
| 405091153 | CV2859466 | deletion | NM_015375.3(DSTYK):c.1982del (p.Gly661fs) | not provided [RCV003549911] | uncertain significance | 1 | 205160237 | 205160237 | Human | | name |
| 405224125 | CV2887684 | single nucleotide variant | NM_015375.3(DSTYK):c.532G>A (p.Val178Ile) | not provided [RCV003554368] | uncertain significance | 1 | 205187540 | 205187540 | Human | | name |
| 405232809 | CV2985438 | single nucleotide variant | NM_015375.3(DSTYK):c.499C>T (p.Leu167Phe) | not provided [RCV003711798] | uncertain significance | 1 | 205187573 | 205187573 | Human | | name |
| 405204575 | CV2990569 | single nucleotide variant | NM_015375.3(DSTYK):c.900A>C (p.Arg300Ser) | not provided [RCV003678568] | uncertain significance | 1 | 205169587 | 205169587 | Human | | name |
| 404996967 | CV3012406 | single nucleotide variant | NM_015375.3(DSTYK):c.964G>A (p.Ala322Thr) | not provided [RCV003692792] | uncertain significance | 1 | 205169523 | 205169523 | Human | | name |
| 405253612 | CV3054196 | single nucleotide variant | NM_015375.3(DSTYK):c.562C>G (p.Pro188Ala) | not provided [RCV003722530]|not specified [RCV004374006] | uncertain significance | 1 | 205187510 | 205187510 | Human | | name |
| 405221043 | CV3060109 | single nucleotide variant | NM_015375.3(DSTYK):c.457C>G (p.Leu153Val) | not provided [RCV003733312]|not specified [RCV004374127] | uncertain significance | 1 | 205187615 | 205187615 | Human | | name |
| 405157742 | CV3065137 | single nucleotide variant | NM_015375.3(DSTYK):c.663C>A (p.Asp221Glu) | not provided [RCV003726879] | likely benign | 1 | 205169824 | 205169824 | Human | | name |
| 405237461 | CV3080989 | single nucleotide variant | NM_015375.3(DSTYK):c.914G>A (p.Arg305His) | not provided [RCV003736166] | uncertain significance | 1 | 205169573 | 205169573 | Human | | name |
| 405184929 | CV3152849 | single nucleotide variant | NM_015375.3(DSTYK):c.857C>T (p.Ser286Leu) | not provided [RCV003842840]|not specified [RCV004366914] | uncertain significance | 1 | 205169630 | 205169630 | Human | | name |
| 405732709 | CV3244895 | single nucleotide variant | NM_015375.3(DSTYK):c.352G>A (p.Gly118Ser) | not provided [RCV004767530]|not specified [RCV004379438] | uncertain significance | 1 | 205187720 | 205187720 | Human | | name |
| 405732727 | CV3244897 | single nucleotide variant | NM_015375.3(DSTYK):c.475A>T (p.Thr159Ser) | not specified [RCV004379440] | uncertain significance | 1 | 205187597 | 205187597 | Human | | name |
| 405732734 | CV3244898 | single nucleotide variant | NM_015375.3(DSTYK):c.485G>A (p.Arg162Gln) | not specified [RCV004379441] | uncertain significance | 1 | 205187587 | 205187587 | Human | | name |
| 405732741 | CV3244899 | single nucleotide variant | NM_015375.3(DSTYK):c.632C>T (p.Thr211Met) | not specified [RCV004379442] | uncertain significance | 1 | 205187440 | 205187440 | Human | | name |
| 405732748 | CV3244900 | single nucleotide variant | NM_015375.3(DSTYK):c.643G>A (p.Ala215Thr) | not specified [RCV004379443] | uncertain significance | 1 | 205187429 | 205187429 | Human | | name |
| 408375780 | CV3511010 | single nucleotide variant | NM_015375.3(DSTYK):c.653A>G (p.Gln218Arg) | DSTYK-related disorder [RCV004748293] | uncertain significance | 1 | 205187419 | 205187419 | Human | | name , trait , alternate_id |
| 597735026 | CV3673795 | single nucleotide variant | NM_015375.3(DSTYK):c.706G>A (p.Val236Ile) | not specified [RCV004920387] | uncertain significance | 1 | 205169781 | 205169781 | Human | | name |
| 597682930 | CV3673799 | single nucleotide variant | NM_015375.3(DSTYK):c.664G>A (p.Val222Ile) | not specified [RCV004914505] | likely benign | 1 | 205169823 | 205169823 | Human | | name |
| 597972766 | CV3790694 | single nucleotide variant | NM_015375.3(DSTYK):c.434A>C (p.Glu145Ala) | not provided [RCV005142909] | uncertain significance | 1 | 205187638 | 205187638 | Human | | name |
| 597908364 | CV3829902 | single nucleotide variant | NM_015375.3(DSTYK):c.433G>A (p.Glu145Lys) | not provided [RCV005182471] | uncertain significance | 1 | 205187639 | 205187639 | Human | | name |
| 597861170 | CV3880799 | single nucleotide variant | NM_015375.3(DSTYK):c.635T>C (p.Met212Thr) | DSTYK-related disroder [RCV005229634] | uncertain significance | 1 | 205187437 | 205187437 | Human | | name , trait |
| 617149293 | CV4017469 | single nucleotide variant | NM_015375.3(DSTYK):c.752C>G (p.Ala251Gly) | not provided [RCV005417127] | uncertain significance | 1 | 205169735 | 205169735 | Human | | name |
| 15159326 | CV718566 | single nucleotide variant | NM_015375.3(DSTYK):c.461G>A (p.Arg154His) | DSTYK-related disorder [RCV003955828]|not provided [RCV000881174] | likely benign | 1 | 205187611 | 205187611 | Human | 1 | name , trait , alternate_id |
| 21075269 | CV794550 | single nucleotide variant | NM_015375.3(DSTYK):c.609T>G (p.His203Gln) | Hereditary spastic paraplegia 23 [RCV001328902]|not provided [RCV000996116] | uncertain significance | 1 | 205187463 | 205187463 | Human | 1 | name |
| 126731923 | CV1019272 | single nucleotide variant | NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter) | Complex hereditary spastic paraplegia [RCV005361537]|Congenital anomalies of kidney and urinary tract 1 [RCV001333861]|Hereditary spastic paraplegia 23 [RCV003147620] | pathogenic|likely pathogenic|uncertain significance | 1 | 205163896 | 205163896 | Human | 3 | name |
| 150505627 | CV1222934 | single nucleotide variant | NM_015375.3(DSTYK):c.1294C>G (p.Leu432Val) | not provided [RCV001621869] | benign | 1 | 205169193 | 205169193 | Human | | name |
| 150454703 | CV1277052 | insertion | NM_015375.3(DSTYK):c.1558-217_1558-216insT | not provided [RCV001708843] | benign | 1 | 205163222 | 205163223 | Human | | name |
| 150528327 | CV1288241 | single nucleotide variant | NM_015375.3(DSTYK):c.1060C>G (p.Arg354Gly) | Congenital anomalies of kidney and urinary tract 1 [RCV001726709] | uncertain significance | 1 | 205169427 | 205169427 | Human | 1 | name |
| 150528693 | CV1306038 | single nucleotide variant | NM_015375.3(DSTYK):c.1802C>T (p.Ala601Val) | not provided [RCV001755442]|not specified [RCV005330904] | uncertain significance | 1 | 205162052 | 205162052 | Human | | name |
| 150550408 | CV1308068 | single nucleotide variant | NM_015375.3(DSTYK):c.2218G>A (p.Asp740Asn) | not provided [RCV001753058] | uncertain significance | 1 | 205159567 | 205159567 | Human | | name |
| 150533551 | CV1311210 | single nucleotide variant | NM_015375.3(DSTYK):c.1959A>T (p.Lys653Asn) | DSTYK-related disorder [RCV004749736]|not provided [RCV001776945] | uncertain significance | 1 | 205160260 | 205160260 | Human | 1 | name , trait , alternate_id |
| 151349423 | CV1325353 | single nucleotide variant | NM_015375.3(DSTYK):c.1169G>A (p.Arg390His) | Hereditary spastic paraplegia 23 [RCV001814641] | uncertain significance | 1 | 205169318 | 205169318 | Human | 1 | name |
| 151352758 | CV1325986 | single nucleotide variant | NM_015375.3(DSTYK):c.1405A>G (p.Ile469Val) | not provided [RCV001815692] | uncertain significance | 1 | 205163875 | 205163875 | Human | | name |
| 151892251 | CV1337526 | single nucleotide variant | NM_015375.3(DSTYK):c.2162A>G (p.Asn721Ser) | not provided [RCV001943918] | uncertain significance | 1 | 205159623 | 205159623 | Human | | name |
| 151878151 | CV1369004 | single nucleotide variant | NM_015375.3(DSTYK):c.1774C>T (p.Arg592Trp) | not provided [RCV001999192] | uncertain significance | 1 | 205162080 | 205162080 | Human | | name |
| 151834055 | CV1369774 | single nucleotide variant | NM_015375.3(DSTYK):c.1253A>C (p.Asp418Ala) | not provided [RCV001920778] | uncertain significance | 1 | 205169234 | 205169234 | Human | | name |
| 151881417 | CV1384896 | single nucleotide variant | NM_015375.3(DSTYK):c.2782T>A (p.Ser928Thr) | not provided [RCV001982605]|not specified [RCV005331071] | uncertain significance | 1 | 205147566 | 205147566 | Human | | name |
| 151734607 | CV1409698 | single nucleotide variant | NM_015375.3(DSTYK):c.1870A>T (p.Arg624Trp) | not provided [RCV001911239] | uncertain significance | 1 | 205161336 | 205161336 | Human | | name |
| 151806742 | CV1463577 | single nucleotide variant | NM_015375.3(DSTYK):c.2755G>C (p.Glu919Gln) | not provided [RCV001932808] | uncertain significance | 1 | 205147593 | 205147593 | Human | | name |
| 155267459 | CV1696664 | single nucleotide variant | NM_015375.3(DSTYK):c.2258C>T (p.Thr753Ile) | not provided [RCV002281522] | uncertain significance | 1 | 205157367 | 205157367 | Human | | name |
| 155948660 | CV1869215 | single nucleotide variant | NM_015375.3(DSTYK):c.1412G>A (p.Arg471Gln) | not provided [RCV003074013] | uncertain significance | 1 | 205163868 | 205163868 | Human | | name |
| 156365355 | CV1906144 | single nucleotide variant | NM_015375.3(DSTYK):c.1853C>T (p.Thr618Met) | not provided [RCV003092015] | uncertain significance | 1 | 205161353 | 205161353 | Human | | name |
| 156418379 | CV1911028 | single nucleotide variant | NM_015375.3(DSTYK):c.1760G>C (p.Ser587Thr) | DSTYK-related disorder [RCV003404106]|not provided [RCV002611565]|not specified [RCV004069117] | uncertain significance | 1 | 205162094 | 205162094 | Human | 1 | name , trait , alternate_id |
| 156019695 | CV1914958 | single nucleotide variant | NM_015375.3(DSTYK):c.2767A>G (p.Arg923Gly) | not provided [RCV002636647] | uncertain significance | 1 | 205147581 | 205147581 | Human | | name |
| 156444146 | CV1937668 | single nucleotide variant | NM_015375.3(DSTYK):c.1436A>C (p.Lys479Thr) | not provided [RCV003115066]|not specified [RCV004244592] | uncertain significance | 1 | 205163844 | 205163844 | Human | | name |
| 156336187 | CV1941884 | single nucleotide variant | NM_015375.3(DSTYK):c.2197A>G (p.Ile733Val) | not provided [RCV003111668]|not specified [RCV004092748] | uncertain significance | 1 | 205159588 | 205159588 | Human | | name |
| 156111249 | CV1988778 | single nucleotide variant | NM_015375.3(DSTYK):c.2207G>A (p.Arg736Gln) | not provided [RCV002622586] | uncertain significance | 1 | 205159578 | 205159578 | Human | | name |
| 156247380 | CV1988945 | single nucleotide variant | NM_015375.3(DSTYK):c.1877G>A (p.Arg626Gln) | Congenital anomalies of kidney and urinary tract 1 [RCV004763442]|not provided [RCV002627337]|not specified [RCV004066622] | uncertain significance | 1 | 205161329 | 205161329 | Human | 1 | name |
| 156367759 | CV2007451 | single nucleotide variant | NM_015375.3(DSTYK):c.1979G>A (p.Arg660Gln) | not provided [RCV002676683] | uncertain significance | 1 | 205160240 | 205160240 | Human | | name |
| 156362225 | CV2119565 | single nucleotide variant | NM_015375.3(DSTYK):c.2216G>A (p.Arg739Gln) | DSTYK-related disorder [RCV003963507]|not provided [RCV002967055] | likely benign | 1 | 205159569 | 205159569 | Human | 1 | name , trait , alternate_id |
| 156012945 | CV2123024 | single nucleotide variant | NM_015375.3(DSTYK):c.2747C>T (p.Ser916Phe) | DSTYK-related disorder [RCV003963512]|not provided [RCV002975745] | likely benign | 1 | 205147601 | 205147601 | Human | 1 | name , trait , alternate_id |
| 156309371 | CV2133093 | single nucleotide variant | NM_015375.3(DSTYK):c.1090C>G (p.Leu364Val) | not provided [RCV003011018] | uncertain significance | 1 | 205169397 | 205169397 | Human | | name |
| 156176656 | CV2144811 | single nucleotide variant | NM_015375.3(DSTYK):c.1522G>A (p.Val508Ile) | not provided [RCV003005574] | uncertain significance | 1 | 205163758 | 205163758 | Human | | name |
| 156401735 | CV2217612 | single nucleotide variant | NM_015375.3(DSTYK):c.1326C>G (p.Asp442Glu) | not specified [RCV004090134] | uncertain significance | 1 | 205163954 | 205163954 | Human | | name |
| 156387467 | CV2221516 | single nucleotide variant | NM_015375.3(DSTYK):c.2293A>G (p.Ile765Val) | not specified [RCV004096786] | uncertain significance | 1 | 205157332 | 205157332 | Human | | name |
| 12791328 | CV226073 | single nucleotide variant | NM_015375.3(DSTYK):c.2368C>T (p.Arg790Cys) | Congenital anomalies of kidney and urinary tract 1 [RCV000416598] | uncertain significance | 1 | 205150779 | 205150779 | Human | 1 | name |
| 12791331 | CV226075 | single nucleotide variant | NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln) | Congenital anomalies of kidney and urinary tract 1 [RCV000416602]|DSTYK-related disorder [RCV003947684]|not provided [RCV002515572] | likely benign|uncertain significance | 1 | 205162079 | 205162079 | Human | 2 | name , trait , alternate_id |
| 12791325 | CV226076 | single nucleotide variant | NM_015375.3(DSTYK):c.1253A>G (p.Asp418Gly) | Congenital anomalies of kidney and urinary tract 1 [RCV000416590] | uncertain significance | 1 | 205169234 | 205169234 | Human | 1 | name |
| 155967021 | CV2261117 | single nucleotide variant | NM_015375.3(DSTYK):c.2240C>G (p.Ala747Gly) | not specified [RCV004128017] | uncertain significance | 1 | 205157385 | 205157385 | Human | | name |
| 156325602 | CV2335318 | single nucleotide variant | NM_015375.3(DSTYK):c.2206C>T (p.Arg736Trp) | not provided [RCV005099905]|not specified [RCV004186880] | uncertain significance | 1 | 205159579 | 205159579 | Human | | name |
| 243058183 | CV2412327 | single nucleotide variant | NM_015375.3(DSTYK):c.2776G>A (p.Asp926Asn) | not provided [RCV003146869] | uncertain significance | 1 | 205147572 | 205147572 | Human | | name |
| 329354153 | CV2447208 | single nucleotide variant | NM_015375.3(DSTYK):c.1249A>G (p.Lys417Glu) | not specified [RCV004262508] | uncertain significance | 1 | 205169238 | 205169238 | Human | | name |
| 329376718 | CV2455008 | single nucleotide variant | NM_015375.3(DSTYK):c.1229A>T (p.Asn410Ile) | not specified [RCV004272270] | uncertain significance | 1 | 205169258 | 205169258 | Human | | name |
| 11545260 | CV249675 | single nucleotide variant | NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg) | Congenital anomalies of kidney and urinary tract 1 [RCV001660328]|Hereditary spastic paraplegia 23 [RCV001660329]|not provided [RCV001696198]|not specified [RCV000244891] | benign | 1 | 205161285 | 205161285 | Human | 6 | name |
| 401749079 | CV2692938 | single nucleotide variant | NM_015375.3(DSTYK):c.1056G>C (p.Gln352His) | not specified [RCV004306458] | uncertain significance | 1 | 205169431 | 205169431 | Human | | name |
| 401769223 | CV2693526 | single nucleotide variant | NM_015375.3(DSTYK):c.1895G>A (p.Arg632His) | not specified [RCV004297510] | uncertain significance | 1 | 205161311 | 205161311 | Human | | name |
| 401878134 | CV2767429 | single nucleotide variant | NM_015375.3(DSTYK):c.2069A>G (p.His690Arg) | not specified [RCV004349583] | uncertain significance | 1 | 205160150 | 205160150 | Human | | name |
| 401865726 | CV2778961 | single nucleotide variant | NM_015375.3(DSTYK):c.1949G>A (p.Arg650His) | not specified [RCV004348623] | uncertain significance | 1 | 205160270 | 205160270 | Human | | name |
| 401934639 | CV2796189 | single nucleotide variant | NM_015375.3(DSTYK):c.1612A>T (p.Thr538Ser) | DSTYK-related disorder [RCV003412062] | uncertain significance | 1 | 205162952 | 205162952 | Human | | name , trait , alternate_id |
| 401936725 | CV2815993 | single nucleotide variant | NM_015375.3(DSTYK):c.1915G>A (p.Glu639Lys) | not provided [RCV003414719] | uncertain significance | 1 | 205161291 | 205161291 | Human | | name |
| 402475909 | CV2857142 | single nucleotide variant | NM_015375.3(DSTYK):c.2701A>G (p.Ile901Val) | not provided [RCV003543368] | uncertain significance | 1 | 205147647 | 205147647 | Human | | name |
| 402498226 | CV2871718 | single nucleotide variant | NM_015375.3(DSTYK):c.2716C>T (p.Leu906Phe) | not provided [RCV003545609] | uncertain significance | 1 | 205147632 | 205147632 | Human | | name |
| 405225564 | CV2882115 | single nucleotide variant | NM_015375.3(DSTYK):c.1840C>T (p.Arg614Trp) | not provided [RCV003554594] | uncertain significance | 1 | 205161366 | 205161366 | Human | | name |
| 405119628 | CV2891628 | single nucleotide variant | NM_015375.3(DSTYK):c.1080G>C (p.Lys360Asn) | not provided [RCV003558948] | uncertain significance | 1 | 205169407 | 205169407 | Human | | name |
| 405068444 | CV2936859 | single nucleotide variant | NM_015375.3(DSTYK):c.2519A>G (p.Tyr840Cys) | not provided [RCV003659273] | uncertain significance | 1 | 205148288 | 205148288 | Human | | name |
| 405187669 | CV2974071 | single nucleotide variant | NM_015375.3(DSTYK):c.1681A>T (p.Thr561Ser) | not provided [RCV003676906] | uncertain significance | 1 | 205162173 | 205162173 | Human | | name |
| 405228845 | CV2980889 | single nucleotide variant | NM_015375.3(DSTYK):c.1028T>G (p.Leu343Trp) | not provided [RCV003711169] | uncertain significance | 1 | 205169459 | 205169459 | Human | | name |
| 402509561 | CV3042419 | single nucleotide variant | NM_015375.3(DSTYK):c.1044C>G (p.His348Gln) | not provided [RCV003715567] | uncertain significance | 1 | 205169443 | 205169443 | Human | | name |
| 405164866 | CV3059474 | single nucleotide variant | NM_015375.3(DSTYK):c.1232G>A (p.Arg411Gln) | not provided [RCV003727361] | uncertain significance | 1 | 205169255 | 205169255 | Human | | name |
| 405042042 | CV3064096 | single nucleotide variant | NM_015375.3(DSTYK):c.2725A>G (p.Ile909Val) | not provided [RCV003739972] | uncertain significance | 1 | 205147623 | 205147623 | Human | | name |
| 405191347 | CV3069957 | single nucleotide variant | NM_015375.3(DSTYK):c.1969G>C (p.Glu657Gln) | not provided [RCV003729747] | uncertain significance | 1 | 205160250 | 205160250 | Human | | name |
| 405103763 | CV3116348 | single nucleotide variant | NM_015375.3(DSTYK):c.1904G>A (p.Arg635His) | not provided [RCV003812064]|not specified [RCV004907876] | uncertain significance | 1 | 205161302 | 205161302 | Human | | name |
| 405165831 | CV3121856 | single nucleotide variant | NM_015375.3(DSTYK):c.1061G>A (p.Arg354His) | not provided [RCV003818634] | uncertain significance | 1 | 205169426 | 205169426 | Human | | name |
| 404977159 | CV3127061 | single nucleotide variant | NM_015375.3(DSTYK):c.2114C>T (p.Pro705Leu) | not provided [RCV003825284] | uncertain significance | 1 | 205159671 | 205159671 | Human | | name |
| 404993617 | CV3132423 | single nucleotide variant | NM_015375.3(DSTYK):c.2301C>G (p.Phe767Leu) | not provided [RCV003827362] | uncertain significance | 1 | 205157324 | 205157324 | Human | | name |
| 405180544 | CV3147472 | single nucleotide variant | NM_015375.3(DSTYK):c.2618G>A (p.Arg873His) | not provided [RCV003842374] | uncertain significance | 1 | 205147730 | 205147730 | Human | | name |
| 405709106 | CV3225592 | single nucleotide variant | NM_015375.3(DSTYK):c.1477G>T (p.Gly493Ter) | Congenital anomalies of kidney and urinary tract 1 [RCV003990649] | likely pathogenic | 1 | 205163803 | 205163803 | Human | 1 | name |
| 405715683 | CV3244888 | single nucleotide variant | NM_015375.3(DSTYK):c.1369A>C (p.Ile457Leu) | not specified [RCV004377357] | uncertain significance | 1 | 205163911 | 205163911 | Human | | name |
| 405732669 | CV3244889 | single nucleotide variant | NM_015375.3(DSTYK):c.1418A>C (p.Asn473Thr) | not specified [RCV004379432] | uncertain significance | 1 | 205163862 | 205163862 | Human | | name |
| 405732676 | CV3244890 | single nucleotide variant | NM_015375.3(DSTYK):c.1861C>A (p.Leu621Ile) | not specified [RCV004379433] | uncertain significance | 1 | 205161345 | 205161345 | Human | | name |
| 405733106 | CV3244891 | single nucleotide variant | NM_015375.3(DSTYK):c.1894C>T (p.Arg632Cys) | not specified [RCV004379434] | uncertain significance | 1 | 205161312 | 205161312 | Human | | name |
| 405732698 | CV3244893 | single nucleotide variant | NM_015375.3(DSTYK):c.2410A>G (p.Met804Val) | not specified [RCV004379436] | uncertain significance | 1 | 205150737 | 205150737 | Human | | name |
| 405853161 | CV3393594 | single nucleotide variant | NM_015375.3(DSTYK):c.2762C>G (p.Pro921Arg) | not provided [RCV004546324] | uncertain significance | 1 | 205147586 | 205147586 | Human | | name |
| 405854738 | CV3394853 | single nucleotide variant | NM_015375.3(DSTYK):c.1394A>G (p.Gln465Arg) | Congenital anomalies of kidney and urinary tract 1 [RCV004554994] | likely pathogenic | 1 | 205163886 | 205163886 | Human | 1 | name |
| 407489773 | CV3430985 | single nucleotide variant | NM_015375.3(DSTYK):c.1932G>C (p.Gln644His) | not specified [RCV004620029] | uncertain significance | 1 | 205161274 | 205161274 | Human | | name |
| 407489782 | CV3430987 | single nucleotide variant | NM_015375.3(DSTYK):c.1474G>T (p.Val492Phe) | not specified [RCV004620031] | uncertain significance | 1 | 205163806 | 205163806 | Human | | name |
| 407489791 | CV3430989 | single nucleotide variant | NM_015375.3(DSTYK):c.1140G>T (p.Met380Ile) | not specified [RCV004620033] | uncertain significance | 1 | 205169347 | 205169347 | Human | | name |
| 407489796 | CV3430990 | single nucleotide variant | NM_015375.3(DSTYK):c.1503C>G (p.Ser501Arg) | not specified [RCV004620034] | uncertain significance | 1 | 205163777 | 205163777 | Human | | name |
| 408378846 | CV3505433 | single nucleotide variant | NM_015375.3(DSTYK):c.2608C>T (p.Arg870Cys) | DSTYK-related disorder [RCV004728084] | uncertain significance | 1 | 205147740 | 205147740 | Human | | name , trait , alternate_id |
| 408376373 | CV3513499 | single nucleotide variant | NM_015375.3(DSTYK):c.1729A>C (p.Ser577Arg) | DSTYK-related disorder [RCV004749088] | uncertain significance | 1 | 205162125 | 205162125 | Human | | name , trait , alternate_id |
| 408393034 | CV3528341 | single nucleotide variant | NM_015375.3(DSTYK):c.2215C>G (p.Arg739Gly) | not provided [RCV004776109] | uncertain significance | 1 | 205159570 | 205159570 | Human | | name |
| 597682862 | CV3673791 | single nucleotide variant | NM_015375.3(DSTYK):c.2369G>A (p.Arg790His) | not specified [RCV004914498] | uncertain significance | 1 | 205150778 | 205150778 | Human | | name |
| 597682872 | CV3673792 | single nucleotide variant | NM_015375.3(DSTYK):c.2099A>G (p.Tyr700Cys) | not specified [RCV004914499] | uncertain significance | 1 | 205160120 | 205160120 | Human | | name |
| 597682881 | CV3673793 | single nucleotide variant | NM_015375.3(DSTYK):c.2291G>T (p.Gly764Val) | not specified [RCV004914500] | uncertain significance | 1 | 205157334 | 205157334 | Human | | name |
| 597682900 | CV3673796 | single nucleotide variant | NM_015375.3(DSTYK):c.1003G>A (p.Glu335Lys) | not specified [RCV004914502] | uncertain significance | 1 | 205169484 | 205169484 | Human | | name |
| 597682912 | CV3673797 | single nucleotide variant | NM_015375.3(DSTYK):c.2327G>A (p.Arg776His) | not specified [RCV004914503] | uncertain significance | 1 | 205157298 | 205157298 | Human | | name |
| 597682920 | CV3673798 | single nucleotide variant | NM_015375.3(DSTYK):c.1834T>G (p.Ser612Ala) | not specified [RCV004914504] | uncertain significance | 1 | 205161372 | 205161372 | Human | | name |
| 597733839 | CV3714997 | single nucleotide variant | NM_015375.3(DSTYK):c.1317G>C (p.Glu439Asp) | Hereditary spastic paraplegia 23 [RCV005012206] | uncertain significance | 1 | 205169170 | 205169170 | Human | 1 | name |
| 597846108 | CV3736417 | single nucleotide variant | NM_015375.3(DSTYK):c.1651C>T (p.Arg551Cys) | not provided [RCV005059995] | uncertain significance | 1 | 205162203 | 205162203 | Human | | name |
| 597946321 | CV3755564 | single nucleotide variant | NM_015375.3(DSTYK):c.2285T>C (p.Val762Ala) | not provided [RCV005078574] | uncertain significance | 1 | 205157340 | 205157340 | Human | | name |
| 597832818 | CV3760301 | single nucleotide variant | NM_015375.3(DSTYK):c.2597G>A (p.Arg866Gln) | not provided [RCV005085044] | uncertain significance | 1 | 205148210 | 205148210 | Human | | name |
| 597874830 | CV3775545 | single nucleotide variant | NM_015375.3(DSTYK):c.2278G>A (p.Asp760Asn) | not provided [RCV005123275] | uncertain significance | 1 | 205157347 | 205157347 | Human | | name |
| 597875754 | CV3775873 | single nucleotide variant | NM_015375.3(DSTYK):c.2227A>G (p.Thr743Ala) | not provided [RCV005123400] | uncertain significance | 1 | 205159558 | 205159558 | Human | | name |
| 597839309 | CV3824934 | single nucleotide variant | NM_015375.3(DSTYK):c.2617C>T (p.Arg873Cys) | not provided [RCV005171798] | uncertain significance | 1 | 205147731 | 205147731 | Human | | name |
| 597976385 | CV3829633 | single nucleotide variant | NM_015375.3(DSTYK):c.1474G>C (p.Val492Leu) | not provided [RCV005169900] | uncertain significance | 1 | 205163806 | 205163806 | Human | | name |
| 597876041 | CV3829775 | single nucleotide variant | NM_015375.3(DSTYK):c.2735G>A (p.Arg912Gln) | not provided [RCV005177483] | uncertain significance | 1 | 205147613 | 205147613 | Human | | name |
| 597872300 | CV3836091 | single nucleotide variant | NM_015375.3(DSTYK):c.2726T>C (p.Ile909Thr) | not provided [RCV005176888] | uncertain significance | 1 | 205147622 | 205147622 | Human | | name |
| 597932894 | CV3844571 | single nucleotide variant | NM_015375.3(DSTYK):c.1081G>A (p.Ala361Thr) | not provided [RCV005186078] | uncertain significance | 1 | 205169406 | 205169406 | Human | | name |
| 597888642 | CV3859535 | single nucleotide variant | NM_015375.3(DSTYK):c.1813C>T (p.Arg605Trp) | not provided [RCV005200191] | uncertain significance | 1 | 205162041 | 205162041 | Human | | name |
| 597874822 | CV3859675 | single nucleotide variant | NM_015375.3(DSTYK):c.2674G>A (p.Asp892Asn) | not provided [RCV005198079] | uncertain significance | 1 | 205147674 | 205147674 | Human | | name |
| 597861176 | CV3880800 | single nucleotide variant | NM_015375.3(DSTYK):c.2231G>C (p.Gly744Ala) | DSTYK-related disroder [RCV005229635] | uncertain significance | 1 | 205159554 | 205159554 | Human | | name , trait |
| 598128583 | CV3887788 | microsatellite | NM_015375.3(DSTYK):c.54CGG[3] (p.Gly22del) | not provided [RCV005243962] | uncertain significance | 1 | 205211471 | 205211473 | Human | | name |
| 598189387 | CV3957360 | single nucleotide variant | NM_015375.3(DSTYK):c.1379G>A (p.Cys460Tyr) | not specified [RCV005334547] | uncertain significance | 1 | 205163901 | 205163901 | Human | | name |
| 598189401 | CV3957362 | single nucleotide variant | NM_015375.3(DSTYK):c.1936G>A (p.Val646Ile) | not specified [RCV005334549] | uncertain significance | 1 | 205161270 | 205161270 | Human | | name |
| 598189408 | CV3957363 | single nucleotide variant | NM_015375.3(DSTYK):c.1241A>T (p.Glu414Val) | not specified [RCV005334550] | uncertain significance | 1 | 205169246 | 205169246 | Human | | name |
| 598189414 | CV3957364 | single nucleotide variant | NM_015375.3(DSTYK):c.1364G>A (p.Arg455Lys) | not specified [RCV005334551] | uncertain significance | 1 | 205163916 | 205163916 | Human | | name |
| 598189421 | CV3957365 | single nucleotide variant | NM_015375.3(DSTYK):c.1247T>C (p.Met416Thr) | not specified [RCV005334552] | uncertain significance | 1 | 205169240 | 205169240 | Human | | name |
| 14696511 | CV622094 | single nucleotide variant | NM_015375.3(DSTYK):c.2528C>T (p.Ser843Leu) | not provided [RCV000782188] | uncertain significance | 1 | 205148279 | 205148279 | Human | | name |
| 15178060 | CV718563 | single nucleotide variant | NM_015375.3(DSTYK):c.2215C>T (p.Arg739Trp) | not provided [RCV000884972] | likely benign | 1 | 205159570 | 205159570 | Human | | name |
| 21075268 | CV794549 | single nucleotide variant | NM_015375.3(DSTYK):c.1007A>G (p.Gln336Arg) | not provided [RCV000996115] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 205169480 | 205169480 | Human | | name |
| 25318967 | CV816437 | single nucleotide variant | NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser) | Congenital anomalies of kidney and urinary tract 1 [RCV001028006] | uncertain significance | 1 | 205147743 | 205147743 | Human | 1 | name |
| 25314967 | CV818164 | single nucleotide variant | NM_015375.3(DSTYK):c.1060C>T (p.Arg354Cys) | Congenital anomalies of kidney and urinary tract 1 [RCV001029927] | uncertain significance | 1 | 205169427 | 205169427 | Human | 1 | name |
| 8629252 | CV84397 | single nucleotide variant | NM_015375.2(DSTYK):c.1691G>A (p.Trp564Ter) | Malignant melanoma [RCV000064479] | not provided | 1 | 205162163 | 205162163 | Human | | name |
| 28899019 | CV904075 | single nucleotide variant | NM_015375.3(DSTYK):c.2776G>T (p.Asp926Tyr) | Chronic kidney disease [RCV001171330]|not provided [RCV001859106] | uncertain significance | 1 | 205147572 | 205147572 | Human | 2 | name |
| 13832233 | CV582725 | deletion | NM_015375.3(DSTYK):c.136_148del (p.Arg46fs) | not provided [RCV000722917] | uncertain significance | 1 | 205211388 | 205211400 | Human | | name |
| 597900268 | CV3835353 | deletion | NM_015375.3(DSTYK):c.2764_2767del (p.Asn922fs) | not provided [RCV005181075] | uncertain significance | 1 | 205147581 | 205147584 | Human | | name |
| 153303923 | CV1690553 | deletion | NM_015375.3(DSTYK):c.1489_1491del (p.Arg497del) | not provided [RCV002269597] | uncertain significance | 1 | 205163789 | 205163791 | Human | | name |
| 12892653 | CV404687 | indel | NM_015375.3(DSTYK):c.2467+930_*1895delinsTGTAGTCCTGCTCCTTGAGG | Hereditary spastic paraplegia 23 [RCV000477749] | pathogenic | 1 | 205145663 | 205149750 | Human | | name |
