| 11629884 | CV344605 | single nucleotide variant | NM_032387.5(WNK4):c.*6G>A | Pseudohypoaldosteronism type 2B [RCV000335115]|not provided [RCV004709646] | benign|likely benign | 17 | 42796694 | 42796694 | Human | 1 | name |
| 11629681 | CV345959 | single nucleotide variant | NM_032387.5(WNK4):c.-22C>T | Pseudohypoaldosteronism type 2B [RCV000330442] | benign|uncertain significance | 17 | 42780677 | 42780677 | Human | 1 | name |
| 11625917 | CV328573 | single nucleotide variant | NM_032387.5(WNK4):c.*335C>G | Pseudohypoaldosteronism type 2B [RCV000404812]|not provided [RCV004709647] | benign|likely benign | 17 | 42797023 | 42797023 | Human | 1 | name |
| 11651595 | CV338514 | single nucleotide variant | NM_032387.5(WNK4):c.*340C>A | Pseudohypoaldosteronism type 2B [RCV000299786] | uncertain significance | 17 | 42797028 | 42797028 | Human | 1 | name |
| 28897872 | CV877603 | single nucleotide variant | NM_032387.5(WNK4):c.*148C>T | Pseudohypoaldosteronism type 2B [RCV001123369] | uncertain significance | 17 | 42796836 | 42796836 | Human | 1 | name |
| 28897875 | CV877604 | single nucleotide variant | NM_032387.5(WNK4):c.*370A>G | Pseudohypoaldosteronism type 2B [RCV001123370] | uncertain significance | 17 | 42797058 | 42797058 | Human | 1 | name |
| 597963562 | CV3837693 | single nucleotide variant | NM_032387.5(WNK4):c.792-2A>G | not provided [RCV005193675] | uncertain significance | 17 | 42783935 | 42783935 | Human | | name |
| 126737011 | CV1021651 | single nucleotide variant | NM_032387.5(WNK4):c.2295+1G>A | not provided [RCV002947678] | pathogenic|uncertain significance | 17 | 42793730 | 42793730 | Human | | name |
| 156250722 | CV1967202 | single nucleotide variant | NM_032387.5(WNK4):c.792-16A>G | not provided [RCV002597460] | likely benign | 17 | 42783921 | 42783921 | Human | | name |
| 156367207 | CV2130742 | single nucleotide variant | NM_032387.5(WNK4):c.3023-9G>A | WNK4-related disorder [RCV003961317]|not provided [RCV002967390] | benign|likely benign | 17 | 42795616 | 42795616 | Human | 1 | name , trait , alternate_id |
| 405190632 | CV3069864 | single nucleotide variant | NM_032387.5(WNK4):c.3729+9G>A | not provided [RCV003729686] | likely benign | 17 | 42796587 | 42796587 | Human | | name |
| 405170505 | CV3122488 | single nucleotide variant | NM_032387.5(WNK4):c.791+19T>C | not provided [RCV003819077] | benign | 17 | 42782949 | 42782949 | Human | | name |
| 405118231 | CV3131047 | single nucleotide variant | NM_032387.5(WNK4):c.3431+9C>T | not provided [RCV003837103] | likely benign | 17 | 42796042 | 42796042 | Human | | name |
| 405047247 | CV3137789 | single nucleotide variant | NM_032387.5(WNK4):c.1742-5A>G | not provided [RCV003831827] | uncertain significance | 17 | 42787773 | 42787773 | Human | | name |
| 404997213 | CV3172865 | single nucleotide variant | NM_032387.5(WNK4):c.791+11C>T | not provided [RCV003882147] | benign | 17 | 42782941 | 42782941 | Human | | name |
| 405272366 | CV3199295 | single nucleotide variant | NM_032387.5(WNK4):c.2350+4T>C | WNK4-related disorder [RCV003914245] | likely benign | 17 | 42794672 | 42794672 | Human | | name , trait , alternate_id |
| 11627921 | CV345981 | single nucleotide variant | NM_032387.5(WNK4):c.3022+3A>G | Pseudohypoaldosteronism type 2B [RCV000292053] | benign|likely benign | 17 | 42795524 | 42795524 | Human | 1 | name |
| 597716965 | CV3709064 | single nucleotide variant | NM_032387.5(WNK4):c.1477-2A>G | Pseudohypoaldosteronism type 2B [RCV005010240] | uncertain significance | 17 | 42787276 | 42787276 | Human | 1 | name |
| 597769793 | CV3709099 | single nucleotide variant | NM_032387.5(WNK4):c.2350+5G>A | Pseudohypoaldosteronism type 2B [RCV005020314] | uncertain significance | 17 | 42794673 | 42794673 | Human | 1 | name |
| 597847352 | CV3762007 | single nucleotide variant | NM_032387.5(WNK4):c.618+20C>T | not provided [RCV005087425] | benign | 17 | 42781336 | 42781336 | Human | | name |
| 597942373 | CV3779901 | deletion | NM_032387.5(WNK4):c.1863+6del | not provided [RCV005118910] | likely benign | 17 | 42787905 | 42787905 | Human | | name |
| 597943585 | CV3847711 | single nucleotide variant | NM_032387.5(WNK4):c.3729+8C>T | not provided [RCV005188439] | likely benign | 17 | 42796586 | 42796586 | Human | | name |
| 13831868 | CV582366 | single nucleotide variant | NM_032387.5(WNK4):c.1742-1G>A | not provided [RCV000722553] | uncertain significance | 17 | 42787777 | 42787777 | Human | | name |
| 15108383 | CV776322 | single nucleotide variant | NM_032387.5(WNK4):c.2157+6G>C | Pseudohypoaldosteronism type 2B [RCV002488018]|not provided [RCV000938145]|not specified [RCV003489972] | likely benign|uncertain significance | 17 | 42788803 | 42788803 | Human | 1 | name |
| 28900239 | CV880520 | single nucleotide variant | NM_032387.5(WNK4):c.1741+9C>G | Pseudohypoaldosteronism type 2B [RCV001124270] | uncertain significance | 17 | 42787551 | 42787551 | Human | 1 | name |
| 28907259 | CV880521 | single nucleotide variant | NM_032387.5(WNK4):c.3432-5C>T | Pseudohypoaldosteronism type 2B [RCV001127471] | uncertain significance | 17 | 42796118 | 42796118 | Human | 1 | name |
| 150501094 | CV1213283 | single nucleotide variant | NM_032387.5(WNK4):c.619-110C>G | not provided [RCV001594695] | benign | 17 | 42782648 | 42782648 | Human | | name |
| 150435136 | CV1221568 | single nucleotide variant | NM_032387.5(WNK4):c.2158-81G>C | not provided [RCV001609256] | benign | 17 | 42793511 | 42793511 | Human | | name |
| 150475372 | CV1271183 | single nucleotide variant | NM_032387.5(WNK4):c.2157+98G>A | not provided [RCV001696006] | benign | 17 | 42788895 | 42788895 | Human | | name |
| 150445642 | CV1278186 | single nucleotide variant | NM_032387.5(WNK4):c.1477-64C>T | not provided [RCV001707329] | benign | 17 | 42787214 | 42787214 | Human | | name |
| 150439250 | CV1287016 | single nucleotide variant | NM_032387.5(WNK4):c.2962-39C>T | not provided [RCV001724931] | benign | 17 | 42795422 | 42795422 | Human | | name |
| 156358090 | CV2006759 | single nucleotide variant | NM_032387.5(WNK4):c.3023-17T>C | not provided [RCV002676061] | likely benign | 17 | 42795608 | 42795608 | Human | | name |
| 156395376 | CV2012190 | single nucleotide variant | NM_032387.5(WNK4):c.2157+13G>C | not provided [RCV002725496] | likely benign | 17 | 42788810 | 42788810 | Human | | name |
| 156032132 | CV2036998 | single nucleotide variant | NM_032387.5(WNK4):c.2295+16G>A | not provided [RCV002781153] | benign | 17 | 42793745 | 42793745 | Human | | name |
| 11545163 | CV256173 | single nucleotide variant | NM_032387.5(WNK4):c.3432-20T>C | Pseudohypoaldosteronism type 2B [RCV002503948]|not provided [RCV002519940]|not specified [RCV000244765] | benign|likely benign | 17 | 42796103 | 42796103 | Human | 1 | name |
| 405110764 | CV2906743 | single nucleotide variant | NM_032387.5(WNK4):c.3431+10G>A | WNK4-related disorder [RCV003901200]|not provided [RCV003557865] | likely benign | 17 | 42796043 | 42796043 | Human | 1 | name , trait , alternate_id |
| 405157868 | CV3065156 | single nucleotide variant | NM_032387.5(WNK4):c.3631+10C>T | not provided [RCV003726887] | likely benign | 17 | 42796332 | 42796332 | Human | | name |
| 405210770 | CV3146152 | single nucleotide variant | NM_032387.5(WNK4):c.1863+13C>T | not provided [RCV003845683] | likely benign | 17 | 42787912 | 42787912 | Human | | name |
| 11625976 | CV338490 | single nucleotide variant | NM_032387.5(WNK4):c.1477-13A>G | Pseudohypoaldosteronism type 2B [RCV000405525]|not provided [RCV001613040] | benign|likely benign | 17 | 42787265 | 42787265 | Human | 1 | name |
| 11619047 | CV338495 | single nucleotide variant | NM_032387.5(WNK4):c.1864-11T>C | Pseudohypoaldosteronism type 2B [RCV000321058]|not provided [RCV003765879] | benign|likely benign | 17 | 42788119 | 42788119 | Human | 1 | name |
| 597769430 | CV3709052 | single nucleotide variant | NM_032387.5(WNK4):c.1170+20C>T | Pseudohypoaldosteronism type 2B [RCV005020272] | uncertain significance | 17 | 42784599 | 42784599 | Human | 1 | name |
| 597769471 | CV3709063 | single nucleotide variant | NM_032387.5(WNK4):c.1477-12C>G | Pseudohypoaldosteronism type 2B [RCV005020279]|not provided [RCV005061880] | uncertain significance | 17 | 42787266 | 42787266 | Human | 1 | name |
| 597836204 | CV3739822 | single nucleotide variant | NM_032387.5(WNK4):c.1171-20T>C | not provided [RCV005064042] | likely benign | 17 | 42785077 | 42785077 | Human | | name |
| 597914597 | CV3740652 | single nucleotide variant | NM_032387.5(WNK4):c.1171-15C>G | not provided [RCV005073989] | likely benign | 17 | 42785082 | 42785082 | Human | | name |
| 597846624 | CV3753100 | single nucleotide variant | NM_032387.5(WNK4):c.1259+16C>A | not provided [RCV005087325] | likely benign | 17 | 42785201 | 42785201 | Human | | name |
| 597947731 | CV3758977 | single nucleotide variant | NM_032387.5(WNK4):c.1260-12C>T | not provided [RCV005078773] | likely benign | 17 | 42785254 | 42785254 | Human | | name |
| 28897868 | CV880522 | single nucleotide variant | NM_032387.5(WNK4):c.3632-14C>A | Pseudohypoaldosteronism type 2B [RCV001123368] | uncertain significance | 17 | 42796467 | 42796467 | Human | 1 | name |
| 150330812 | CV1169723 | single nucleotide variant | NM_032387.5(WNK4):c.1171-188A>G | not provided [RCV001536143] | benign | 17 | 42784909 | 42784909 | Human | | name |
| 150472155 | CV1217134 | single nucleotide variant | NM_032387.5(WNK4):c.1170+145G>A | not provided [RCV001615429] | benign | 17 | 42784724 | 42784724 | Human | | name |
| 150486560 | CV1225761 | deletion | NM_032387.5(WNK4):c.1171-161del | not provided [RCV001617922] | benign | 17 | 42784927 | 42784927 | Human | | name |
| 150477997 | CV1252104 | single nucleotide variant | NM_032387.5(WNK4):c.1477-201G>A | not provided [RCV001672304] | benign | 17 | 42787077 | 42787077 | Human | | name |
| 150439392 | CV1264961 | single nucleotide variant | NM_032387.5(WNK4):c.2295+126G>A | not provided [RCV001678954] | benign | 17 | 42793855 | 42793855 | Human | | name |
| 150439225 | CV1287013 | single nucleotide variant | NM_032387.5(WNK4):c.2041-120G>A | not provided [RCV001724928] | benign | 17 | 42788561 | 42788561 | Human | 1 | name |
| 150439225 | CV1287013 | single nucleotide variant | NM_032387.5(WNK4):c.2041-120G>A | not provided [RCV001724928] | benign | 17 | 42788561 | 42788562 | Human | 1 | name |
| 156211059 | CV1929114 | single nucleotide variant | NM_032387.5(WNK4):c.15G>A (p.Pro5=) | not provided [RCV002643998] | likely benign | 17 | 42780713 | 42780713 | Human | | name |
| 153304830 | CV1687276 | single nucleotide variant | NM_032387.5(WNK4):c.45G>A (p.Gln15=) | not provided [RCV002263094] | likely benign | 17 | 42780743 | 42780743 | Human | | name |
| 405029189 | CV3073618 | single nucleotide variant | NM_032387.5(WNK4):c.33C>T (p.Val11=) | not provided [RCV003739013] | benign | 17 | 42780731 | 42780731 | Human | | name |
| 405175085 | CV3150604 | single nucleotide variant | NM_032387.5(WNK4):c.99G>A (p.Gln33=) | not provided [RCV003841878] | likely benign | 17 | 42780797 | 42780797 | Human | | name |
| 21075626 | CV797543 | deletion | NM_032387.5(WNK4):c.2041-7_2041-2del | not provided [RCV000996558] | uncertain significance | 17 | 42788670 | 42788675 | Human | | name |
| 156225012 | CV2121763 | single nucleotide variant | NM_032387.5(WNK4):c.297G>T (p.Pro99=) | not provided [RCV002958291] | benign | 17 | 42780995 | 42780995 | Human | | name |
| 156230935 | CV2227561 | single nucleotide variant | NM_032387.5(WNK4):c.17C>A (p.Ala6Asp) | Inborn genetic diseases [RCV002712753] | uncertain significance | 17 | 42780715 | 42780715 | Human | 1 | name |
| 11624511 | CV328525 | single nucleotide variant | NM_032387.5(WNK4):c.14C>T (p.Pro5Leu) | Inborn genetic diseases [RCV004678678]|Pseudohypoaldosteronism type 2B [RCV000387167]|not provided [RCV002522965] | likely benign|uncertain significance | 17 | 42780712 | 42780712 | Human | 2 | name |
| 11627356 | CV344552 | single nucleotide variant | NM_032387.5(WNK4):c.16G>A (p.Ala6Thr) | Pseudohypoaldosteronism type 2B [RCV000281170]|WNK4-related disorder [RCV003897737]|not provided [RCV000971310] | benign|likely benign | 17 | 42780714 | 42780714 | Human | 1 | name , trait , alternate_id |
| 407524763 | CV3487951 | single nucleotide variant | NM_032387.5(WNK4):c.11C>T (p.Ser4Phe) | Inborn genetic diseases [RCV004678546] | uncertain significance | 17 | 42780709 | 42780709 | Human | 1 | name |
| 597769417 | CV3709021 | single nucleotide variant | NM_032387.5(WNK4):c.26C>T (p.Thr9Ile) | Pseudohypoaldosteronism type 2B [RCV005020241] | uncertain significance | 17 | 42780724 | 42780724 | Human | 1 | name |
| 597769308 | CV3709031 | single nucleotide variant | NM_032387.5(WNK4):c.282C>A (p.Pro94=) | Pseudohypoaldosteronism type 2B [RCV005020251] | likely benign | 17 | 42780980 | 42780980 | Human | 1 | name |
| 597906820 | CV3738833 | single nucleotide variant | NM_032387.5(WNK4):c.198C>T (p.Asp66=) | not provided [RCV005073068] | benign | 17 | 42780896 | 42780896 | Human | | name |
| 28899998 | CV877568 | single nucleotide variant | NM_032387.5(WNK4):c.204G>A (p.Gly68=) | Pseudohypoaldosteronism type 2B [RCV001124179] | likely benign | 17 | 42780902 | 42780902 | Human | 1 | name |
| 156404658 | CV1898349 | single nucleotide variant | NM_032387.5(WNK4):c.825G>A (p.Arg275=) | not provided [RCV002585457] | benign | 17 | 42783970 | 42783970 | Human | | name |
| 156301323 | CV1902097 | single nucleotide variant | NM_032387.5(WNK4):c.474G>A (p.Glu158=) | not provided [RCV003087942] | benign | 17 | 42781172 | 42781172 | Human | | name |
| 156038678 | CV2047800 | deletion | NM_032387.5(WNK4):c.1476+20_1476+24del | not provided [RCV002781409] | benign | 17 | 42785499 | 42785503 | Human | | name |
| 155936493 | CV2074892 | single nucleotide variant | NM_032387.5(WNK4):c.35T>G (p.Leu12Arg) | not provided [RCV002861476] | uncertain significance | 17 | 42780733 | 42780733 | Human | | name |
| 155975997 | CV2085120 | single nucleotide variant | NM_032387.5(WNK4):c.987C>T (p.Arg329=) | not provided [RCV002863534] | likely benign | 17 | 42784132 | 42784132 | Human | | name |
| 156017794 | CV2121507 | single nucleotide variant | NM_032387.5(WNK4):c.762C>T (p.Thr254=) | not provided [RCV002948623] | likely benign | 17 | 42782901 | 42782901 | Human | | name |
| 329377435 | CV2462627 | single nucleotide variant | NM_032387.5(WNK4):c.64C>G (p.Leu22Val) | Inborn genetic diseases [RCV003211873] | uncertain significance | 17 | 42780762 | 42780762 | Human | 1 | name |
| 401931359 | CV2800948 | single nucleotide variant | NM_032387.5(WNK4):c.64C>A (p.Leu22Met) | WNK4-related disorder [RCV003391330] | uncertain significance | 17 | 42780762 | 42780762 | Human | | name , trait , alternate_id |
| 402484340 | CV2944871 | single nucleotide variant | NM_032387.5(WNK4):c.321G>A (p.Glu107=) | not provided [RCV003659931] | likely benign | 17 | 42781019 | 42781019 | Human | | name |
| 405227528 | CV3039665 | single nucleotide variant | NM_032387.5(WNK4):c.903G>A (p.Arg301=) | not provided [RCV003710960] | likely benign | 17 | 42784048 | 42784048 | Human | | name |
| 405183546 | CV3057818 | single nucleotide variant | NM_032387.5(WNK4):c.82C>G (p.Leu28Val) | Pseudohypoaldosteronism type 2B [RCV005014919]|not provided [RCV003729034] | uncertain significance | 17 | 42780780 | 42780780 | Human | 1 | name |
| 405203939 | CV3057916 | single nucleotide variant | NM_032387.5(WNK4):c.675C>T (p.Leu225=) | not provided [RCV003731090] | likely benign | 17 | 42782814 | 42782814 | Human | | name |
| 405189762 | CV3069716 | single nucleotide variant | NM_032387.5(WNK4):c.375C>G (p.Pro125=) | not provided [RCV003729612] | likely benign | 17 | 42781073 | 42781073 | Human | | name |
| 405217912 | CV3135643 | single nucleotide variant | NM_032387.5(WNK4):c.37A>G (p.Met13Val) | not provided [RCV003824268] | uncertain significance | 17 | 42780735 | 42780735 | Human | | name |
| 405277036 | CV3192582 | single nucleotide variant | NM_032387.5(WNK4):c.783G>A (p.Thr261=) | WNK4-related disorder [RCV003917312] | likely benign | 17 | 42782922 | 42782922 | Human | | name , trait , alternate_id |
| 405285174 | CV3202536 | single nucleotide variant | NM_032387.5(WNK4):c.730C>T (p.Leu244=) | WNK4-related disorder [RCV003909796]|not provided [RCV005101664] | benign|likely benign | 17 | 42782869 | 42782869 | Human | 1 | name , trait , alternate_id |
| 11625936 | CV328531 | single nucleotide variant | NM_032387.5(WNK4):c.717G>T (p.Ser239=) | Pseudohypoaldosteronism type 2A [RCV000404592]|Pseudohypoaldosteronism type 2B [RCV005016711]|not provided [RCV005090492] | benign|likely benign|uncertain significance | 17 | 42782856 | 42782856 | Human | 3 | name |
| 405812081 | CV3352903 | single nucleotide variant | NM_032387.5(WNK4):c.38T>G (p.Met13Arg) | Inborn genetic diseases [RCV004483103] | uncertain significance | 17 | 42780736 | 42780736 | Human | 1 | name |
| 11627295 | CV344558 | single nucleotide variant | NM_032387.5(WNK4):c.507C>A (p.Pro169=) | Pseudohypoaldosteronism type 2B [RCV000279867]|not provided [RCV002522967] | benign|likely benign | 17 | 42781205 | 42781205 | Human | 1 | name |
| 11628474 | CV344560 | single nucleotide variant | NM_032387.5(WNK4):c.945C>T (p.Gly315=) | Pseudohypoaldosteronism type 2B [RCV000303081]|not provided [RCV000883454] | benign|likely benign | 17 | 42784090 | 42784090 | Human | 1 | name |
| 11630046 | CV345961 | single nucleotide variant | NM_032387.5(WNK4):c.47C>T (p.Thr16Ile) | Pseudohypoaldosteronism type 2B [RCV000338395]|not provided [RCV002522966] | benign|likely benign | 17 | 42780745 | 42780745 | Human | 1 | name |
| 407465480 | CV3487947 | single nucleotide variant | NM_032387.5(WNK4):c.34C>T (p.Leu12Phe) | Inborn genetic diseases [RCV004688779] | uncertain significance | 17 | 42780732 | 42780732 | Human | 1 | name |
| 407477582 | CV3495169 | single nucleotide variant | NM_032387.5(WNK4):c.651C>T (p.Arg217=) | not specified [RCV004691072] | likely benign | 17 | 42782790 | 42782790 | Human | | name |
| 408380153 | CV3510439 | single nucleotide variant | NM_032387.5(WNK4):c.98A>T (p.Gln33Leu) | Inborn genetic diseases [RCV005301444]|WNK4-related disorder [RCV004753927] | likely benign|uncertain significance | 17 | 42780796 | 42780796 | Human | 2 | name , trait , alternate_id |
| 597769269 | CV3709022 | single nucleotide variant | NM_032387.5(WNK4):c.73C>T (p.Pro25Ser) | Pseudohypoaldosteronism type 2B [RCV005020242] | uncertain significance | 17 | 42780771 | 42780771 | Human | 1 | name |
| 597769264 | CV3709023 | single nucleotide variant | NM_032387.5(WNK4):c.79C>T (p.Pro27Ser) | Pseudohypoaldosteronism type 2B [RCV005020243] | uncertain significance | 17 | 42780777 | 42780777 | Human | 1 | name |
| 597769290 | CV3709028 | duplication | NM_032387.5(WNK4):c.252dup (p.Asp85fs) | Pseudohypoaldosteronism type 2B [RCV005020248] | uncertain significance | 17 | 42780943 | 42780944 | Human | 1 | name |
| 597922041 | CV3738455 | single nucleotide variant | NM_032387.5(WNK4):c.366C>G (p.Ser122=) | not provided [RCV005074862] | likely benign | 17 | 42781064 | 42781064 | Human | | name |
| 597909332 | CV3749515 | single nucleotide variant | NM_032387.5(WNK4):c.568C>A (p.Arg190=) | not provided [RCV005073363] | likely benign | 17 | 42781266 | 42781266 | Human | | name |
| 597885713 | CV3777302 | single nucleotide variant | NM_032387.5(WNK4):c.501G>A (p.Thr167=) | not provided [RCV005124901] | likely benign | 17 | 42781199 | 42781199 | Human | | name |
| 597884748 | CV3780647 | deletion | NM_032387.5(WNK4):c.144del (p.Lys49fs) | not provided [RCV005124775] | uncertain significance | 17 | 42780840 | 42780840 | Human | | name |
| 597966356 | CV3845015 | single nucleotide variant | NM_032387.5(WNK4):c.633T>C (p.Ser211=) | not provided [RCV005194343] | benign | 17 | 42782772 | 42782772 | Human | | name |
| 617151462 | CV4017988 | single nucleotide variant | NM_032387.5(WNK4):c.76C>T (p.Pro26Ser) | not specified [RCV005417778] | uncertain significance | 17 | 42780774 | 42780774 | Human | | name |
| 8621594 | CV75568 | single nucleotide variant | NM_032387.5(WNK4):c.546T>A (p.Arg182=) | not provided [RCV000054790] | uncertain significance | 17 | 42781244 | 42781244 | Human | | name |
| 28899989 | CV877565 | single nucleotide variant | NM_032387.5(WNK4):c.79C>G (p.Pro27Ala) | Pseudohypoaldosteronism type 2B [RCV001124176] | uncertain significance | 17 | 42780777 | 42780777 | Human | 1 | name |
| 28899992 | CV877566 | single nucleotide variant | NM_032387.5(WNK4):c.92C>A (p.Ala31Glu) | Pseudohypoaldosteronism type 2B [RCV001124177]|not provided [RCV005093572] | benign|likely benign | 17 | 42780790 | 42780790 | Human | 1 | name |
| 28906073 | CV877572 | single nucleotide variant | NM_032387.5(WNK4):c.450G>A (p.Arg150=) | Pseudohypoaldosteronism type 2B [RCV001126849] | uncertain significance | 17 | 42781148 | 42781148 | Human | 1 | name |
| 28906808 | CV877576 | single nucleotide variant | NM_032387.5(WNK4):c.924C>T (p.Val308=) | Pseudohypoaldosteronism type 2B [RCV001127249]|not provided [RCV002556782] | likely benign | 17 | 42784069 | 42784069 | Human | 1 | name |
| 156323701 | CV1882780 | single nucleotide variant | NM_032387.5(WNK4):c.292C>A (p.Pro98Thr) | not provided [RCV003089342] | likely benign | 17 | 42780990 | 42780990 | Human | | name |
| 156281274 | CV1922539 | single nucleotide variant | NM_032387.5(WNK4):c.1182G>A (p.Pro394=) | not provided [RCV002628441] | likely benign | 17 | 42785108 | 42785108 | Human | | name |
| 156435780 | CV1937141 | single nucleotide variant | NM_032387.5(WNK4):c.268G>T (p.Ala90Ser) | Inborn genetic diseases [RCV004244555]|not provided [RCV003105011] | likely benign|uncertain significance | 17 | 42780966 | 42780966 | Human | 1 | name |
| 156028538 | CV2109096 | single nucleotide variant | NM_032387.5(WNK4):c.2031G>A (p.Arg677=) | not provided [RCV002909956] | benign | 17 | 42788398 | 42788398 | Human | | name |
| 156018551 | CV2121552 | single nucleotide variant | NM_032387.5(WNK4):c.1329G>A (p.Ala443=) | not provided [RCV002948657] | benign | 17 | 42785335 | 42785335 | Human | | name |
| 156010088 | CV2124519 | single nucleotide variant | NM_032387.5(WNK4):c.1659C>T (p.Val553=) | not provided [RCV002948214] | benign | 17 | 42787460 | 42787460 | Human | | name |
| 156119299 | CV2128450 | single nucleotide variant | NM_032387.5(WNK4):c.182G>A (p.Arg61His) | not provided [RCV002953435] | benign | 17 | 42780880 | 42780880 | Human | | name |
| 156119332 | CV2128451 | single nucleotide variant | NM_032387.5(WNK4):c.2502C>A (p.Pro834=) | not provided [RCV002953436] | benign | 17 | 42794923 | 42794923 | Human | | name |
| 156326051 | CV2184343 | single nucleotide variant | NM_032387.5(WNK4):c.1287C>T (p.His429=) | not provided [RCV003046941] | likely benign | 17 | 42785293 | 42785293 | Human | | name |
| 156336228 | CV2189900 | deletion | NM_032387.5(WNK4):c.880del (p.Arg294fs) | not provided [RCV003063979] | uncertain significance | 17 | 42784023 | 42784023 | Human | | name |
| 156376967 | CV2206919 | single nucleotide variant | NM_032387.5(WNK4):c.148G>A (p.Ala50Thr) | Inborn genetic diseases [RCV002677926]|not provided [RCV003689022] | uncertain significance | 17 | 42780846 | 42780846 | Human | 1 | name |
| 156091462 | CV2256586 | single nucleotide variant | NM_032387.5(WNK4):c.154C>G (p.Pro52Ala) | Inborn genetic diseases [RCV002798534] | uncertain significance | 17 | 42780852 | 42780852 | Human | 1 | name |
| 156061546 | CV2320920 | single nucleotide variant | NM_032387.5(WNK4):c.140C>T (p.Ser47Phe) | Inborn genetic diseases [RCV002925080]|Pseudohypoaldosteronism type 2B [RCV005021730] | uncertain significance | 17 | 42780838 | 42780838 | Human | 2 | name |
| 156263339 | CV2329364 | single nucleotide variant | NM_032387.5(WNK4):c.103C>T (p.Arg35Cys) | Inborn genetic diseases [RCV002959886] | uncertain significance | 17 | 42780801 | 42780801 | Human | 1 | name |
| 405070350 | CV2876451 | single nucleotide variant | NM_032387.5(WNK4):c.1713C>T (p.Phe571=) | not provided [RCV003548492] | likely benign | 17 | 42787514 | 42787514 | Human | | name |
| 402505209 | CV2884400 | single nucleotide variant | NM_032387.5(WNK4):c.1278C>T (p.Leu426=) | not provided [RCV003546295] | benign | 17 | 42785284 | 42785284 | Human | | name |
| 405238731 | CV2996843 | single nucleotide variant | NM_032387.5(WNK4):c.2754C>A (p.Thr918=) | not provided [RCV003718721] | likely benign | 17 | 42795175 | 42795175 | Human | | name |
| 405052439 | CV3022201 | single nucleotide variant | NM_032387.5(WNK4):c.142G>C (p.Gly48Arg) | Inborn genetic diseases [RCV005301348]|not provided [RCV003697101] | likely benign|uncertain significance | 17 | 42780840 | 42780840 | Human | 1 | name |
| 405117443 | CV3130960 | single nucleotide variant | NM_032387.5(WNK4):c.1899A>G (p.Gly633=) | not provided [RCV003837016] | likely benign | 17 | 42788165 | 42788165 | Human | | name |
| 405287007 | CV3205512 | single nucleotide variant | NM_032387.5(WNK4):c.1911C>T (p.Ser637=) | WNK4-related disorder [RCV003959668] | likely benign | 17 | 42788177 | 42788177 | Human | | name , trait , alternate_id |
| 405279525 | CV3217500 | single nucleotide variant | NM_032387.5(WNK4):c.2829C>T (p.Ser943=) | WNK4-related disorder [RCV003976899]|not provided [RCV005103097] | likely benign | 17 | 42795250 | 42795250 | Human | 1 | name , trait , alternate_id |
| 11621365 | CV328549 | single nucleotide variant | NM_032387.5(WNK4):c.1953C>T (p.Ser651=) | Pseudohypoaldosteronism type 2B [RCV000347879] | likely benign|uncertain significance | 17 | 42788320 | 42788320 | Human | 1 | name |
| 11612685 | CV328551 | single nucleotide variant | NM_032387.5(WNK4):c.2724G>A (p.Pro908=) | Pseudohypoaldosteronism type 2B [RCV000261414]|not provided [RCV001675817] | benign | 17 | 42795145 | 42795145 | Human | 1 | name |
| 405812059 | CV3352892 | single nucleotide variant | NM_032387.5(WNK4):c.254A>G (p.Asp85Gly) | Inborn genetic diseases [RCV004483092] | uncertain significance | 17 | 42780952 | 42780952 | Human | 1 | name |
| 405812061 | CV3352893 | single nucleotide variant | NM_032387.5(WNK4):c.262G>C (p.Asp88His) | Inborn genetic diseases [RCV004483093]|not provided [RCV005104773] | uncertain significance | 17 | 42780960 | 42780960 | Human | 1 | name |
| 11622712 | CV338491 | single nucleotide variant | NM_032387.5(WNK4):c.1524T>C (p.Arg508=) | Pseudohypoaldosteronism type 2B [RCV000363826]|not provided [RCV000904291] | benign|likely benign | 17 | 42787325 | 42787325 | Human | 1 | name |
| 11618704 | CV338494 | single nucleotide variant | NM_032387.5(WNK4):c.1809G>A (p.Gln603=) | Pseudohypoaldosteronism type 2B [RCV000317145] | uncertain significance | 17 | 42787845 | 42787845 | Human | 1 | name |
| 11631229 | CV344554 | single nucleotide variant | NM_032387.5(WNK4):c.239C>A (p.Ala80Asp) | Pseudohypoaldosteronism type 2B [RCV000371996]|WNK4-related disorder [RCV003912340]|not provided [RCV000957610] | benign | 17 | 42780937 | 42780937 | Human | 1 | name , trait , alternate_id |
| 11631035 | CV344564 | single nucleotide variant | NM_032387.5(WNK4):c.1641C>T (p.Ala547=) | Pseudohypoaldosteronism type 2B [RCV000366794]|not provided [RCV002056601]|not specified [RCV000606499] | benign | 17 | 42787442 | 42787442 | Human | 1 | name |
| 11632362 | CV344589 | single nucleotide variant | NM_032387.5(WNK4):c.2334C>T (p.Leu778=) | Pseudohypoaldosteronism type 2B [RCV000406393]|not provided [RCV002522973] | benign|likely benign | 17 | 42794652 | 42794652 | Human | 1 | name |
| 11629430 | CV344595 | single nucleotide variant | NM_032387.5(WNK4):c.2823G>A (p.Leu941=) | Pseudohypoaldosteronism type 2B [RCV000323735] | uncertain significance | 17 | 42795244 | 42795244 | Human | 1 | name |
| 11627146 | CV345962 | single nucleotide variant | NM_032387.5(WNK4):c.1572G>T (p.Leu524=) | Pseudohypoaldosteronism type 2B [RCV000276243]|not provided [RCV002522969] | benign|likely benign | 17 | 42787373 | 42787373 | Human | 1 | name |
| 11627073 | CV345966 | single nucleotide variant | NM_032387.5(WNK4):c.1653C>T (p.Pro551=) | Pseudohypoaldosteronism type 2B [RCV000274566]|not provided [RCV000880337] | benign|likely benign | 17 | 42787454 | 42787454 | Human | 1 | name |
| 11631324 | CV345970 | single nucleotide variant | NM_032387.5(WNK4):c.1719C>T (p.His573=) | Pseudohypoaldosteronism type 2B [RCV000374989]|not provided [RCV000974373] | benign|likely benign | 17 | 42787520 | 42787520 | Human | 1 | name |
| 11631455 | CV345974 | single nucleotide variant | NM_032387.5(WNK4):c.1827A>G (p.Pro609=) | Pseudohypoaldosteronism type 2B [RCV000378684]|not provided [RCV000892115] | benign|likely benign | 17 | 42787863 | 42787863 | Human | 1 | name |
| 407524755 | CV3487948 | single nucleotide variant | NM_032387.5(WNK4):c.238G>A (p.Ala80Thr) | Inborn genetic diseases [RCV004678543] | uncertain significance | 17 | 42780936 | 42780936 | Human | 1 | name |
| 407524759 | CV3487950 | single nucleotide variant | NM_032387.5(WNK4):c.172C>G (p.Arg58Gly) | Inborn genetic diseases [RCV004678545] | uncertain significance | 17 | 42780870 | 42780870 | Human | 1 | name |
| 408381101 | CV3523761 | single nucleotide variant | NM_032387.5(WNK4):c.133C>A (p.Arg45Ser) | not provided [RCV004766159] | uncertain significance | 17 | 42780831 | 42780831 | Human | | name |
| 597631025 | CV3624180 | single nucleotide variant | NM_032387.5(WNK4):c.109G>A (p.Gly37Arg) | Inborn genetic diseases [RCV004967488] | uncertain significance | 17 | 42780807 | 42780807 | Human | 1 | name |
| 597769274 | CV3709025 | single nucleotide variant | NM_032387.5(WNK4):c.125G>A (p.Arg42Gln) | Pseudohypoaldosteronism type 2B [RCV005020245] | uncertain significance | 17 | 42780823 | 42780823 | Human | 1 | name |
| 597769279 | CV3709026 | single nucleotide variant | NM_032387.5(WNK4):c.130C>T (p.Arg44Cys) | Pseudohypoaldosteronism type 2B [RCV005020246] | uncertain significance | 17 | 42780828 | 42780828 | Human | 1 | name |
| 597769284 | CV3709027 | single nucleotide variant | NM_032387.5(WNK4):c.142G>A (p.Gly48Arg) | Pseudohypoaldosteronism type 2B [RCV005020247] | uncertain significance | 17 | 42780840 | 42780840 | Human | 1 | name |
| 597769297 | CV3709029 | single nucleotide variant | NM_032387.5(WNK4):c.251C>T (p.Pro84Leu) | Pseudohypoaldosteronism type 2B [RCV005020249] | uncertain significance | 17 | 42780949 | 42780949 | Human | 1 | name |
| 597769302 | CV3709030 | single nucleotide variant | NM_032387.5(WNK4):c.271G>C (p.Gly91Arg) | Pseudohypoaldosteronism type 2B [RCV005020250] | uncertain significance | 17 | 42780969 | 42780969 | Human | 1 | name |
| 597769313 | CV3709032 | single nucleotide variant | NM_032387.5(WNK4):c.292C>T (p.Pro98Ser) | Pseudohypoaldosteronism type 2B [RCV005020252] | uncertain significance | 17 | 42780990 | 42780990 | Human | 1 | name |
| 597769348 | CV3709038 | deletion | NM_032387.5(WNK4):c.683del (p.Leu228fs) | Pseudohypoaldosteronism type 2B [RCV005020258] | uncertain significance | 17 | 42782822 | 42782822 | Human | 1 | name |
| 597769528 | CV3709074 | single nucleotide variant | NM_032387.5(WNK4):c.1716C>T (p.Arg572=) | Pseudohypoaldosteronism type 2B [RCV005020289] | uncertain significance | 17 | 42787517 | 42787517 | Human | 1 | name |
| 597769762 | CV3709093 | single nucleotide variant | NM_032387.5(WNK4):c.2184G>A (p.Ser728=) | Pseudohypoaldosteronism type 2B [RCV005020308] | uncertain significance | 17 | 42793618 | 42793618 | Human | 1 | name |
| 597769831 | CV3709107 | single nucleotide variant | NM_032387.5(WNK4):c.2748C>T (p.Pro916=) | Pseudohypoaldosteronism type 2B [RCV005020322] | uncertain significance | 17 | 42795169 | 42795169 | Human | 1 | name |
| 597866075 | CV3742409 | single nucleotide variant | NM_032387.5(WNK4):c.1404A>C (p.Pro468=) | not provided [RCV005068025] | likely benign | 17 | 42785410 | 42785410 | Human | | name |
| 597849067 | CV3746545 | single nucleotide variant | NM_032387.5(WNK4):c.2409C>T (p.Ser803=) | not provided [RCV005060364] | likely benign | 17 | 42794830 | 42794830 | Human | | name |
| 597937967 | CV3787978 | single nucleotide variant | NM_032387.5(WNK4):c.1662C>T (p.Phe554=) | not provided [RCV005132857] | likely benign | 17 | 42787463 | 42787463 | Human | | name |
| 597901579 | CV3796732 | single nucleotide variant | NM_032387.5(WNK4):c.2865C>T (p.Ala955=) | not provided [RCV005152815] | likely benign | 17 | 42795286 | 42795286 | Human | | name |
| 597959718 | CV3797628 | single nucleotide variant | NM_032387.5(WNK4):c.221C>T (p.Ser74Phe) | not provided [RCV005138315] | uncertain significance | 17 | 42780919 | 42780919 | Human | | name |
| 597875061 | CV3816842 | duplication | NM_032387.5(WNK4):c.318dup (p.Glu107fs) | not provided [RCV005148895] | uncertain significance | 17 | 42781010 | 42781011 | Human | | name |
| 597947847 | CV3818177 | single nucleotide variant | NM_032387.5(WNK4):c.157C>G (p.Arg53Gly) | not provided [RCV005160438] | uncertain significance | 17 | 42780855 | 42780855 | Human | | name |
| 597872333 | CV3836097 | single nucleotide variant | NM_032387.5(WNK4):c.1782C>T (p.Phe594=) | not provided [RCV005176894] | likely benign | 17 | 42787818 | 42787818 | Human | | name |
| 597932018 | CV3837956 | single nucleotide variant | NM_032387.5(WNK4):c.2673G>A (p.Thr891=) | not provided [RCV005185925] | benign | 17 | 42795094 | 42795094 | Human | | name |
| 598236038 | CV3937143 | single nucleotide variant | NM_032387.5(WNK4):c.104G>T (p.Arg35Leu) | Inborn genetic diseases [RCV005295949] | uncertain significance | 17 | 42780802 | 42780802 | Human | 1 | name |
| 598190045 | CV4008781 | single nucleotide variant | NM_032387.5(WNK4):c.163C>T (p.Arg55Cys) | Pseudohypoaldosteronism type 2B [RCV005396280] | uncertain significance | 17 | 42780861 | 42780861 | Human | 1 | name |
| 8621591 | CV75565 | single nucleotide variant | NM_032387.5(WNK4):c.2577C>T (p.Thr859=) | not provided [RCV000054787] | uncertain significance | 17 | 42794998 | 42794998 | Human | | name |
| 8621592 | CV75566 | single nucleotide variant | NM_032387.5(WNK4):c.2718T>C (p.Phe906=) | not provided [RCV000054788] | uncertain significance | 17 | 42795139 | 42795139 | Human | | name |
| 15112097 | CV755867 | single nucleotide variant | NM_032387.5(WNK4):c.2136G>A (p.Pro712=) | Pseudohypoaldosteronism type 2B [RCV002479063]|not provided [RCV000916853] | likely benign | 17 | 42788776 | 42788776 | Human | 1 | name |
| 15108706 | CV755868 | single nucleotide variant | NM_032387.5(WNK4):c.2310A>G (p.Pro770=) | Pseudohypoaldosteronism type 2B [RCV002502769]|not provided [RCV000916192] | likely benign | 17 | 42794628 | 42794628 | Human | 1 | name |
| 15105313 | CV755869 | single nucleotide variant | NM_032387.5(WNK4):c.2490C>T (p.Pro830=) | not provided [RCV000915521] | likely benign | 17 | 42794911 | 42794911 | Human | | name |
| 21075625 | CV797542 | single nucleotide variant | NM_032387.5(WNK4):c.1080G>T (p.Ala360=) | not provided [RCV000996557] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 42784489 | 42784489 | Human | | name |
| 28899996 | CV877567 | single nucleotide variant | NM_032387.5(WNK4):c.164G>A (p.Arg55His) | Pseudohypoaldosteronism type 2B [RCV001124178] | uncertain significance | 17 | 42780862 | 42780862 | Human | 1 | name |
| 28900000 | CV877569 | single nucleotide variant | NM_032387.5(WNK4):c.246C>A (p.Asp82Glu) | Pseudohypoaldosteronism type 2B [RCV001124180] | likely benign|conflicting interpretations of pathogenicity | 17 | 42780944 | 42780944 | Human | 1 | name |
| 28897405 | CV877582 | single nucleotide variant | NM_032387.5(WNK4):c.1527A>G (p.Ala509=) | Pseudohypoaldosteronism type 2B [RCV001123186] | uncertain significance | 17 | 42787328 | 42787328 | Human | 1 | name |
| 28900243 | CV877584 | single nucleotide variant | NM_032387.5(WNK4):c.1743G>A (p.Ser581=) | Pseudohypoaldosteronism type 2B [RCV001124271] | benign|likely benign | 17 | 42787779 | 42787779 | Human | 1 | name |
| 28906239 | CV877585 | single nucleotide variant | NM_032387.5(WNK4):c.1818G>A (p.Gly606=) | Pseudohypoaldosteronism type 2B [RCV001126939]|not provided [RCV005093586] | likely benign | 17 | 42787854 | 42787854 | Human | 1 | name |
| 28906240 | CV877586 | single nucleotide variant | NM_032387.5(WNK4):c.1855C>T (p.Leu619=) | Pseudohypoaldosteronism type 2B [RCV001126940] | benign | 17 | 42787891 | 42787891 | Human | 1 | name |
| 28897652 | CV877592 | single nucleotide variant | NM_032387.5(WNK4):c.2481C>T (p.Pro827=) | Pseudohypoaldosteronism type 2B [RCV001123284]|not provided [RCV003727879] | likely benign | 17 | 42794902 | 42794902 | Human | 1 | name |
| 28897654 | CV877593 | single nucleotide variant | NM_032387.5(WNK4):c.2610C>T (p.Pro870=) | Pseudohypoaldosteronism type 2B [RCV001123285] | uncertain significance | 17 | 42795031 | 42795031 | Human | 1 | name |
| 28897657 | CV877594 | single nucleotide variant | NM_032387.5(WNK4):c.2625A>G (p.Pro875=) | Pseudohypoaldosteronism type 2B [RCV001123286] | uncertain significance | 17 | 42795046 | 42795046 | Human | 1 | name |
| 28900576 | CV877596 | single nucleotide variant | NM_032387.5(WNK4):c.2814C>G (p.Ala938=) | Pseudohypoaldosteronism type 2B [RCV001124389] | uncertain significance | 17 | 42795235 | 42795235 | Human | 1 | name |
| 126912264 | CV1038534 | single nucleotide variant | NM_032387.5(WNK4):c.776C>T (p.Ser259Leu) | not provided [RCV001356333] | uncertain significance | 17 | 42782915 | 42782915 | Human | | name |
| 150475405 | CV1271188 | duplication | NM_032387.5(WNK4):c.1171-162_1171-161dup | not provided [RCV001696011] | benign | 17 | 42784926 | 42784927 | Human | | name |
| 150520467 | CV1289679 | deletion | NM_032387.5(WNK4):c.1822del (p.Val608fs) | Pseudohypoaldosteronism type 2B [RCV001730098]|not provided [RCV005094906] | uncertain significance | 17 | 42787852 | 42787852 | Human | 1 | name |
| 151732825 | CV1336437 | single nucleotide variant | NM_032387.5(WNK4):c.506C>T (p.Pro169Leu) | Pseudohypoaldosteronism type 2B [RCV001849665] | pathogenic | 17 | 42781204 | 42781204 | Human | 1 | name |
| 153345983 | CV1690901 | deletion | NM_032387.5(WNK4):c.1800del (p.Ala601fs) | Pseudohypoaldosteronism type 2B [RCV005017179]|not provided [RCV003096115]|not specified [RCV002271801] | likely benign|uncertain significance | 17 | 42787836 | 42787836 | Human | 1 | name |
| 156262000 | CV1913591 | single nucleotide variant | NM_032387.5(WNK4):c.731T>C (p.Leu244Pro) | not provided [RCV002627796] | uncertain significance | 17 | 42782870 | 42782870 | Human | | name |
| 156022410 | CV1919942 | single nucleotide variant | NM_032387.5(WNK4):c.476A>G (p.Asp159Gly) | Inborn genetic diseases [RCV004068921]|Pseudohypoaldosteronism type 2B [RCV005021596]|not provided [RCV002619463] | uncertain significance | 17 | 42781174 | 42781174 | Human | 2 | name |
| 156446510 | CV1947856 | single nucleotide variant | NM_032387.5(WNK4):c.703C>T (p.Arg235Cys) | Inborn genetic diseases [RCV004244603]|Pseudohypoaldosteronism type 2B [RCV005021799]|not provided [RCV003118017] | uncertain significance | 17 | 42782842 | 42782842 | Human | 2 | name |
| 156146183 | CV1973839 | single nucleotide variant | NM_032387.5(WNK4):c.3480T>C (p.Ile1160=) | not provided [RCV002593997] | likely benign | 17 | 42796171 | 42796171 | Human | | name |
| 156012163 | CV2016835 | single nucleotide variant | NM_032387.5(WNK4):c.587C>A (p.Thr196Asn) | Pseudohypoaldosteronism type 2B [RCV005019341]|not provided [RCV002734952] | uncertain significance | 17 | 42781285 | 42781285 | Human | 1 | name |
| 155910287 | CV2032853 | single nucleotide variant | NM_032387.5(WNK4):c.3669C>G (p.Thr1223=) | not provided [RCV002750084] | likely benign | 17 | 42796518 | 42796518 | Human | | name |
| 155901184 | CV2043583 | single nucleotide variant | NM_032387.5(WNK4):c.692C>T (p.Pro231Leu) | not provided [RCV002770980] | uncertain significance | 17 | 42782831 | 42782831 | Human | | name |
| 156160139 | CV2128674 | single nucleotide variant | NM_032387.5(WNK4):c.374C>G (p.Pro125Arg) | Inborn genetic diseases [RCV005288854]|Pseudohypoaldosteronism type 2B [RCV005019502]|not provided [RCV002929213]|not specified [RCV005059093] | likely benign|uncertain significance | 17 | 42781072 | 42781072 | Human | 2 | name |
| 156146756 | CV2130908 | single nucleotide variant | NM_032387.5(WNK4):c.3640C>A (p.Arg1214=) | not provided [RCV002982509] | likely benign | 17 | 42796489 | 42796489 | Human | | name |
| 156160297 | CV2136742 | single nucleotide variant | NM_032387.5(WNK4):c.3075G>A (p.Pro1025=) | not provided [RCV003005036] | likely benign | 17 | 42795677 | 42795677 | Human | | name |
| 156313802 | CV2143907 | single nucleotide variant | NM_032387.5(WNK4):c.3009G>A (p.Ala1003=) | not provided [RCV003011268]|not specified [RCV005419530] | benign|likely benign | 17 | 42795508 | 42795508 | Human | | name |
| 156221026 | CV2173245 | single nucleotide variant | NM_032387.5(WNK4):c.550T>C (p.Ser184Pro) | not provided [RCV003025194] | uncertain significance | 17 | 42781248 | 42781248 | Human | | name |
| 156032624 | CV2214487 | single nucleotide variant | NM_032387.5(WNK4):c.650G>A (p.Arg217His) | Inborn genetic diseases [RCV002691692] | uncertain significance | 17 | 42782789 | 42782789 | Human | 1 | name |
| 156028072 | CV2238196 | single nucleotide variant | NM_032387.5(WNK4):c.901C>G (p.Arg301Gly) | Inborn genetic diseases [RCV002757861] | uncertain significance | 17 | 42784046 | 42784046 | Human | 1 | name |
| 156307738 | CV2249423 | single nucleotide variant | NM_032387.5(WNK4):c.941C>T (p.Thr314Ile) | Inborn genetic diseases [RCV002808685] | uncertain significance | 17 | 42784086 | 42784086 | Human | 1 | name |
| 155951077 | CV2267948 | single nucleotide variant | NM_032387.5(WNK4):c.884T>G (p.Val295Gly) | Inborn genetic diseases [RCV002840374] | uncertain significance | 17 | 42784029 | 42784029 | Human | 1 | name |
| 156030840 | CV2278757 | single nucleotide variant | NM_032387.5(WNK4):c.977C>A (p.Thr326Lys) | Inborn genetic diseases [RCV002845370] | uncertain significance | 17 | 42784122 | 42784122 | Human | 1 | name |
| 155902380 | CV2378507 | single nucleotide variant | NM_032387.5(WNK4):c.533T>C (p.Ile178Thr) | Inborn genetic diseases [RCV002748914] | uncertain significance | 17 | 42781231 | 42781231 | Human | 1 | name |
| 243062087 | CV2414293 | single nucleotide variant | NM_032387.5(WNK4):c.716C>A (p.Ser239Ter) | Pseudohypoaldosteronism type 2B [RCV003139362] | uncertain significance | 17 | 42782855 | 42782855 | Human | 1 | name |
| 329373217 | CV2455956 | single nucleotide variant | NM_032387.5(WNK4):c.493G>T (p.Val165Leu) | Inborn genetic diseases [RCV003210374]|Pseudohypoaldosteronism type 2B [RCV005021855]|not provided [RCV005101325] | uncertain significance | 17 | 42781191 | 42781191 | Human | 2 | name |
| 401777879 | CV2704426 | single nucleotide variant | NM_032387.5(WNK4):c.491C>T (p.Ala164Val) | Inborn genetic diseases [RCV003286885] | uncertain significance | 17 | 42781189 | 42781189 | Human | 1 | name |
| 401872925 | CV2793085 | single nucleotide variant | NM_032387.5(WNK4):c.959G>A (p.Gly320Glu) | Inborn genetic diseases [RCV003381816] | uncertain significance | 17 | 42784104 | 42784104 | Human | 1 | name |
| 405133229 | CV2959227 | single nucleotide variant | NM_032387.5(WNK4):c.986G>T (p.Arg329Leu) | not provided [RCV003668498] | uncertain significance | 17 | 42784131 | 42784131 | Human | | name |
| 405242394 | CV2967293 | single nucleotide variant | NM_032387.5(WNK4):c.704G>A (p.Arg235His) | Pseudohypoaldosteronism type 2B [RCV005014834]|not provided [RCV003684343] | uncertain significance | 17 | 42782843 | 42782843 | Human | 1 | name |
| 405196982 | CV2976171 | single nucleotide variant | NM_032387.5(WNK4):c.824G>A (p.Arg275Gln) | not provided [RCV003677769] | uncertain significance | 17 | 42783969 | 42783969 | Human | | name |
| 405019653 | CV3001887 | single nucleotide variant | NM_032387.5(WNK4):c.920A>C (p.Asn307Thr) | not provided [RCV003694709] | uncertain significance | 17 | 42784065 | 42784065 | Human | | name |
| 405192411 | CV3069923 | single nucleotide variant | NM_032387.5(WNK4):c.3519G>A (p.Pro1173=) | Pseudohypoaldosteronism type 2B [RCV005014929]|not provided [RCV003729722] | uncertain significance | 17 | 42796210 | 42796210 | Human | 1 | name |
| 405222802 | CV3158324 | single nucleotide variant | NM_032387.5(WNK4):c.3412C>T (p.Leu1138=) | not provided [RCV003863820] | likely benign | 17 | 42796014 | 42796014 | Human | | name |
| 11620856 | CV328526 | single nucleotide variant | NM_032387.5(WNK4):c.679G>T (p.Gly227Trp) | Inborn genetic diseases [RCV004965410]|Pseudohypoaldosteronism type 2B [RCV000341945]|not provided [RCV002522968] | benign|likely benign|uncertain significance | 17 | 42782818 | 42782818 | Human | 2 | name |
| 405812083 | CV3352904 | single nucleotide variant | NM_032387.5(WNK4):c.500C>A (p.Thr167Lys) | Inborn genetic diseases [RCV004483104] | uncertain significance | 17 | 42781198 | 42781198 | Human | 1 | name |
| 407524757 | CV3487949 | single nucleotide variant | NM_032387.5(WNK4):c.842G>A (p.Ser281Asn) | Inborn genetic diseases [RCV004678544] | uncertain significance | 17 | 42783987 | 42783987 | Human | 1 | name |
| 407524764 | CV3487952 | single nucleotide variant | NM_032387.5(WNK4):c.821C>T (p.Pro274Leu) | Inborn genetic diseases [RCV004678547] | uncertain significance | 17 | 42783966 | 42783966 | Human | 1 | name |
| 407476869 | CV3494957 | single nucleotide variant | NM_032387.5(WNK4):c.812A>T (p.Glu271Val) | not specified [RCV004690858] | uncertain significance | 17 | 42783957 | 42783957 | Human | | name |
| 407573208 | CV3498852 | duplication | NM_032387.5(WNK4):c.2605dup (p.Thr869fs) | not specified [RCV004699821] | uncertain significance | 17 | 42795025 | 42795026 | Human | | name |
| 596923093 | CV3530254 | single nucleotide variant | NM_032387.5(WNK4):c.673C>G (p.Leu225Val) | not provided [RCV004776853] | uncertain significance | 17 | 42782812 | 42782812 | Human | | name |
| 597628069 | CV3624173 | single nucleotide variant | NM_032387.5(WNK4):c.623G>A (p.Arg208Gln) | Inborn genetic diseases [RCV004967481]|Pseudohypoaldosteronism type 2B [RCV005017323] | likely benign|uncertain significance | 17 | 42782762 | 42782762 | Human | 2 | name |
| 597631013 | CV3624175 | single nucleotide variant | NM_032387.5(WNK4):c.370C>T (p.Arg124Cys) | Inborn genetic diseases [RCV004967483] | uncertain significance | 17 | 42781068 | 42781068 | Human | 1 | name |
| 597631026 | CV3624181 | single nucleotide variant | NM_032387.5(WNK4):c.997G>T (p.Ala333Ser) | Inborn genetic diseases [RCV004967489] | uncertain significance | 17 | 42784142 | 42784142 | Human | 1 | name |
| 597631032 | CV3624183 | single nucleotide variant | NM_032387.5(WNK4):c.887C>T (p.Pro296Leu) | Inborn genetic diseases [RCV004967491] | uncertain significance | 17 | 42784032 | 42784032 | Human | 1 | name |
| 597631039 | CV3624186 | single nucleotide variant | NM_032387.5(WNK4):c.769A>G (p.Met257Val) | Inborn genetic diseases [RCV004967494] | uncertain significance | 17 | 42782908 | 42782908 | Human | 1 | name |
| 597769320 | CV3709033 | single nucleotide variant | NM_032387.5(WNK4):c.314C>G (p.Pro105Arg) | Pseudohypoaldosteronism type 2B [RCV005020253] | uncertain significance | 17 | 42781012 | 42781012 | Human | 1 | name |
| 597769326 | CV3709034 | single nucleotide variant | NM_032387.5(WNK4):c.337G>A (p.Gly113Arg) | Pseudohypoaldosteronism type 2B [RCV005020254] | uncertain significance | 17 | 42781035 | 42781035 | Human | 1 | name |
| 597769331 | CV3709035 | single nucleotide variant | NM_032387.5(WNK4):c.412G>T (p.Glu138Ter) | Pseudohypoaldosteronism type 2B [RCV005020255] | uncertain significance | 17 | 42781110 | 42781110 | Human | 1 | name |
| 597769336 | CV3709036 | single nucleotide variant | NM_032387.5(WNK4):c.440C>T (p.Ala147Val) | Pseudohypoaldosteronism type 2B [RCV005020256] | uncertain significance | 17 | 42781138 | 42781138 | Human | 1 | name |
| 597769343 | CV3709037 | single nucleotide variant | NM_032387.5(WNK4):c.656C>T (p.Ser219Leu) | Pseudohypoaldosteronism type 2B [RCV005020257] | uncertain significance | 17 | 42782795 | 42782795 | Human | 1 | name |
| 597769353 | CV3709039 | single nucleotide variant | NM_032387.5(WNK4):c.685C>T (p.Gln229Ter) | Pseudohypoaldosteronism type 2B [RCV005020259] | uncertain significance | 17 | 42782824 | 42782824 | Human | 1 | name |
| 597769359 | CV3709040 | single nucleotide variant | NM_032387.5(WNK4):c.716C>T (p.Ser239Leu) | Pseudohypoaldosteronism type 2B [RCV005020260] | uncertain significance | 17 | 42782855 | 42782855 | Human | 1 | name |
| 597769366 | CV3709041 | single nucleotide variant | NM_032387.5(WNK4):c.779G>A (p.Gly260Asp) | Pseudohypoaldosteronism type 2B [RCV005020261] | uncertain significance | 17 | 42782918 | 42782918 | Human | 1 | name |
| 597769372 | CV3709042 | single nucleotide variant | NM_032387.5(WNK4):c.904G>C (p.Asp302His) | Pseudohypoaldosteronism type 2B [RCV005020262] | uncertain significance | 17 | 42784049 | 42784049 | Human | 1 | name |
| 597769377 | CV3709043 | single nucleotide variant | NM_032387.5(WNK4):c.932C>T (p.Thr311Met) | Pseudohypoaldosteronism type 2B [RCV005020263] | uncertain significance | 17 | 42784077 | 42784077 | Human | 1 | name |
| 597769382 | CV3709044 | single nucleotide variant | NM_032387.5(WNK4):c.956T>C (p.Ile319Thr) | Pseudohypoaldosteronism type 2B [RCV005020264] | uncertain significance | 17 | 42784101 | 42784101 | Human | 1 | name |
| 597769389 | CV3709045 | single nucleotide variant | NM_032387.5(WNK4):c.958G>C (p.Gly320Arg) | Pseudohypoaldosteronism type 2B [RCV005020265] | uncertain significance | 17 | 42784103 | 42784103 | Human | 1 | name |
| 597769394 | CV3709046 | single nucleotide variant | NM_032387.5(WNK4):c.963C>G (p.Asp321Glu) | Pseudohypoaldosteronism type 2B [RCV005020266] | uncertain significance | 17 | 42784108 | 42784108 | Human | 1 | name |
| 597769400 | CV3709047 | single nucleotide variant | NM_032387.5(WNK4):c.977C>T (p.Thr326Met) | Pseudohypoaldosteronism type 2B [RCV005020267] | uncertain significance | 17 | 42784122 | 42784122 | Human | 1 | name |
| 597769509 | CV3709071 | deletion | NM_032387.5(WNK4):c.1668del (p.Glu557fs) | Pseudohypoaldosteronism type 2B [RCV005020286] | uncertain significance | 17 | 42787469 | 42787469 | Human | 1 | name |
| 597769561 | CV3709081 | duplication | NM_032387.5(WNK4):c.1822dup (p.Val608fs) | Pseudohypoaldosteronism type 2B [RCV005020295]|not provided [RCV005112673] | uncertain significance | 17 | 42787851 | 42787852 | Human | 1 | name |
| 597769778 | CV3709096 | duplication | NM_032387.5(WNK4):c.2325dup (p.Val776fs) | Pseudohypoaldosteronism type 2B [RCV005020311] | uncertain significance | 17 | 42794640 | 42794641 | Human | 1 | name |
| 597769935 | CV3709129 | single nucleotide variant | NM_032387.5(WNK4):c.3627C>T (p.Gly1209=) | Pseudohypoaldosteronism type 2B [RCV005020343] | uncertain significance | 17 | 42796318 | 42796318 | Human | 1 | name |
| 597838894 | CV3736943 | single nucleotide variant | NM_032387.5(WNK4):c.512G>A (p.Gly171Asp) | not provided [RCV005064423] | uncertain significance | 17 | 42781210 | 42781210 | Human | | name |
| 597898086 | CV3740784 | duplication | NM_032387.5(WNK4):c.1398dup (p.Arg467fs) | not provided [RCV005071947] | uncertain significance | 17 | 42785398 | 42785399 | Human | | name |
| 597881567 | CV3763849 | single nucleotide variant | NM_032387.5(WNK4):c.484A>G (p.Thr162Ala) | not provided [RCV005109249] | uncertain significance | 17 | 42781182 | 42781182 | Human | | name |
| 597970061 | CV3791816 | single nucleotide variant | NM_032387.5(WNK4):c.622C>T (p.Arg208Trp) | not provided [RCV005141633] | uncertain significance | 17 | 42782761 | 42782761 | Human | | name |
| 597964668 | CV3792529 | single nucleotide variant | NM_032387.5(WNK4):c.3366C>T (p.Ser1122=) | not provided [RCV005139896] | benign | 17 | 42795968 | 42795968 | Human | | name |
| 597961808 | CV3840844 | single nucleotide variant | NM_032387.5(WNK4):c.3567C>T (p.Leu1189=) | not provided [RCV005193137] | likely benign | 17 | 42796258 | 42796258 | Human | | name |
| 597888727 | CV3859547 | single nucleotide variant | NM_032387.5(WNK4):c.3219C>T (p.Ser1073=) | not provided [RCV005200203] | likely benign | 17 | 42795821 | 42795821 | Human | | name |
| 598190067 | CV4008784 | single nucleotide variant | NM_032387.5(WNK4):c.741G>C (p.Gln247His) | Pseudohypoaldosteronism type 2B [RCV005396283] | uncertain significance | 17 | 42782880 | 42782880 | Human | 1 | name |
| 616934267 | CV4012261 | single nucleotide variant | NM_032387.5(WNK4):c.3033G>A (p.Pro1011=) | not specified [RCV005409297] | likely benign | 17 | 42795635 | 42795635 | Human | | name |
| 8621595 | CV75569 | single nucleotide variant | NM_032387.5(WNK4):c.973G>A (p.Ala325Thr) | not provided [RCV000054791] | uncertain significance | 17 | 42784118 | 42784118 | Human | | name |
| 28906068 | CV877570 | single nucleotide variant | NM_032387.5(WNK4):c.316C>A (p.Pro106Thr) | Pseudohypoaldosteronism type 2B [RCV001126847] | uncertain significance | 17 | 42781014 | 42781014 | Human | 1 | name |
| 28906071 | CV877571 | single nucleotide variant | NM_032387.5(WNK4):c.383C>G (p.Pro128Arg) | Inborn genetic diseases [RCV002556765]|Pseudohypoaldosteronism type 2B [RCV001126848] | benign|uncertain significance | 17 | 42781081 | 42781081 | Human | 2 | name |
| 28906076 | CV877573 | single nucleotide variant | NM_032387.5(WNK4):c.560C>T (p.Thr187Met) | Pseudohypoaldosteronism type 2B [RCV001126850] | uncertain significance | 17 | 42781258 | 42781258 | Human | 1 | name |
| 28906077 | CV877574 | single nucleotide variant | NM_032387.5(WNK4):c.643C>T (p.Arg215Trp) | Inborn genetic diseases [RCV004963135]|Pseudohypoaldosteronism type 2B [RCV001126851]|not provided [RCV003769215] | uncertain significance | 17 | 42782782 | 42782782 | Human | 2 | name |
| 28906078 | CV877575 | single nucleotide variant | NM_032387.5(WNK4):c.716C>G (p.Ser239Trp) | Inborn genetic diseases [RCV004678966]|Pseudohypoaldosteronism type 2B [RCV001126852]|not provided [RCV001355913] | likely benign|uncertain significance | 17 | 42782855 | 42782855 | Human | 2 | name |
| 28906810 | CV877577 | single nucleotide variant | NM_032387.5(WNK4):c.937C>G (p.Pro313Ala) | Inborn genetic diseases [RCV002556783]|Pseudohypoaldosteronism type 2B [RCV001127250] | uncertain significance | 17 | 42784082 | 42784082 | Human | 2 | name |
| 126743385 | CV1021652 | deletion | NM_032387.5(WNK4):c.3133del (p.Ser1045fs) | Pseudohypoaldosteronism type 2B [RCV005367873] | pathogenic|uncertain significance | 17 | 42795734 | 42795734 | Human | 1 | name |
| 127278815 | CV1104851 | single nucleotide variant | NM_032387.5(WNK4):c.1573C>G (p.Arg525Gly) | Pseudohypoaldosteronism type 2B [RCV005014565]|not provided [RCV001445335] | likely benign | 17 | 42787374 | 42787374 | Human | 1 | name |
| 150338030 | CV1166721 | deletion | NM_032387.5(WNK4):c.3108del (p.Thr1037fs) | Pseudohypoaldosteronism type 2B [RCV001533200] | likely pathogenic | 17 | 42795706 | 42795706 | Human | 1 | name |
| 155645775 | CV1709129 | single nucleotide variant | NM_032387.5(WNK4):c.2258G>A (p.Gly753Asp) | not provided [RCV002292005] | uncertain significance | 17 | 42793692 | 42793692 | Human | | name |
| 155935839 | CV1916445 | single nucleotide variant | NM_032387.5(WNK4):c.1555C>T (p.Arg519Ter) | not provided [RCV002615299] | uncertain significance | 17 | 42787356 | 42787356 | Human | | name |
| 156069914 | CV1928076 | single nucleotide variant | NM_032387.5(WNK4):c.1531C>T (p.Arg511Cys) | Inborn genetic diseases [RCV002638568]|not provided [RCV002654899] | benign|uncertain significance | 17 | 42787332 | 42787332 | Human | 1 | name |
| 156168040 | CV1959996 | deletion | NM_032387.5(WNK4):c.3673del (p.Ser1225fs) | not provided [RCV002573729] | uncertain significance | 17 | 42796522 | 42796522 | Human | | name |
| 156236882 | CV1982468 | single nucleotide variant | NM_032387.5(WNK4):c.1456G>A (p.Glu486Lys) | not provided [RCV002627000] | uncertain significance | 17 | 42785462 | 42785462 | Human | | name |
| 156138321 | CV2006486 | single nucleotide variant | NM_032387.5(WNK4):c.1246G>T (p.Asp416Tyr) | Pseudohypoaldosteronism type 2B [RCV005019321]|not provided [RCV002663474] | uncertain significance | 17 | 42785172 | 42785172 | Human | 1 | name |
| 155941639 | CV2022416 | single nucleotide variant | NM_032387.5(WNK4):c.1306C>A (p.Arg436Ser) | Inborn genetic diseases [RCV002730155]|not provided [RCV002717275] | uncertain significance | 17 | 42785312 | 42785312 | Human | 1 | name |
| 156029223 | CV2022569 | single nucleotide variant | NM_032387.5(WNK4):c.2110C>T (p.Arg704Ter) | not provided [RCV002735733] | uncertain significance | 17 | 42788750 | 42788750 | Human | | name |
| 156174230 | CV2026563 | single nucleotide variant | NM_032387.5(WNK4):c.1822G>T (p.Val608Leu) | not provided [RCV002765412] | uncertain significance | 17 | 42787858 | 42787858 | Human | | name |
| 156038519 | CV2047792 | single nucleotide variant | NM_032387.5(WNK4):c.1666C>G (p.Pro556Ala) | Pseudohypoaldosteronism type 2B [RCV005398987]|not provided [RCV002781403] | uncertain significance | 17 | 42787467 | 42787467 | Human | 1 | name |
| 156339905 | CV2092600 | single nucleotide variant | NM_032387.5(WNK4):c.2536A>G (p.Ile846Val) | Pseudohypoaldosteronism type 2B [RCV005019450]|not provided [RCV002900416] | uncertain significance | 17 | 42794957 | 42794957 | Human | 1 | name |
| 156025429 | CV2106082 | single nucleotide variant | NM_032387.5(WNK4):c.1822G>A (p.Val608Met) | not provided [RCV002923266] | likely benign | 17 | 42787858 | 42787858 | Human | | name |
| 156027084 | CV2108850 | single nucleotide variant | NM_032387.5(WNK4):c.2893C>T (p.Leu965Phe) | Pseudohypoaldosteronism type 2B [RCV005399020]|WNK4-related disorder [RCV004753591]|not provided [RCV002909891] | benign|likely benign|uncertain significance | 17 | 42795314 | 42795314 | Human | 1 | name , trait , alternate_id |
| 156318608 | CV2111826 | single nucleotide variant | NM_032387.5(WNK4):c.2006G>A (p.Arg669Gln) | not provided [RCV002937604] | likely benign | 17 | 42788373 | 42788373 | Human | | name |
| 156195120 | CV2113615 | single nucleotide variant | NM_032387.5(WNK4):c.1915G>A (p.Gly639Arg) | Inborn genetic diseases [RCV002957182]|not provided [RCV002933822] | likely benign|uncertain significance | 17 | 42788181 | 42788181 | Human | 1 | name |
| 156020567 | CV2118568 | single nucleotide variant | NM_032387.5(WNK4):c.2527T>C (p.Phe843Leu) | not provided [RCV002948752] | uncertain significance | 17 | 42794948 | 42794948 | Human | | name |
| 155910440 | CV2141540 | single nucleotide variant | NM_032387.5(WNK4):c.2080C>T (p.Gln694Ter) | Pseudohypoaldosteronism type 2B [RCV005019526]|not provided [RCV002968007] | uncertain significance | 17 | 42788720 | 42788720 | Human | 1 | name |
| 156097900 | CV2183692 | single nucleotide variant | NM_032387.5(WNK4):c.2095A>G (p.Lys699Glu) | not provided [RCV003054612] | uncertain significance | 17 | 42788735 | 42788735 | Human | | name |
| 156160681 | CV2236374 | single nucleotide variant | NM_032387.5(WNK4):c.1033C>T (p.Pro345Ser) | Inborn genetic diseases [RCV002787465] | uncertain significance | 17 | 42784442 | 42784442 | Human | 1 | name |
| 156081456 | CV2249063 | single nucleotide variant | NM_032387.5(WNK4):c.1672C>T (p.Pro558Ser) | Inborn genetic diseases [RCV002797979] | uncertain significance | 17 | 42787473 | 42787473 | Human | 1 | name |
| 8597613 | CV22699 | single nucleotide variant | NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu) | Pseudohypoaldosteronism type 2B [RCV000008099] | pathogenic | 17 | 42787494 | 42787494 | Human | 1 | name |
| 8597614 | CV22700 | single nucleotide variant | NM_032387.5(WNK4):c.1684G>A (p.Glu562Lys) | Pseudohypoaldosteronism type 2B [RCV000008100] | pathogenic | 17 | 42787485 | 42787485 | Human | 1 | name |
| 8597615 | CV22701 | single nucleotide variant | NM_032387.5(WNK4):c.1691A>C (p.Asp564Ala) | Pseudohypoaldosteronism type 2B [RCV000008101] | pathogenic | 17 | 42787492 | 42787492 | Human | 1 | name |
| 156024880 | CV2273917 | single nucleotide variant | NM_032387.5(WNK4):c.2746C>T (p.Pro916Ser) | Inborn genetic diseases [RCV002844924] | uncertain significance | 17 | 42795167 | 42795167 | Human | 1 | name |
| 156086761 | CV2289994 | single nucleotide variant | NM_032387.5(WNK4):c.1391G>C (p.Arg464Pro) | Inborn genetic diseases [RCV002869586] | uncertain significance | 17 | 42785397 | 42785397 | Human | 1 | name |
| 156286411 | CV2292080 | single nucleotide variant | NM_032387.5(WNK4):c.2155A>G (p.Met719Val) | Inborn genetic diseases [RCV002896848]|not provided [RCV003708711] | uncertain significance | 17 | 42788795 | 42788795 | Human | 1 | name |
| 156081789 | CV2292850 | single nucleotide variant | NM_032387.5(WNK4):c.2885G>C (p.Ser962Thr) | Inborn genetic diseases [RCV002869302] | uncertain significance | 17 | 42795306 | 42795306 | Human | 1 | name |
| 155901357 | CV2294452 | single nucleotide variant | NM_032387.5(WNK4):c.2659A>G (p.Thr887Ala) | Inborn genetic diseases [RCV002901116] | uncertain significance | 17 | 42795080 | 42795080 | Human | 1 | name |
| 156293865 | CV2306368 | single nucleotide variant | NM_032387.5(WNK4):c.1700A>G (p.Gln567Arg) | Inborn genetic diseases [RCV002897375] | uncertain significance | 17 | 42787501 | 42787501 | Human | 1 | name |
| 156357780 | CV2318362 | single nucleotide variant | NM_032387.5(WNK4):c.2014C>A (p.Pro672Thr) | Inborn genetic diseases [RCV002940873] | uncertain significance | 17 | 42788381 | 42788381 | Human | 1 | name |
| 156101360 | CV2347798 | single nucleotide variant | NM_032387.5(WNK4):c.2905G>A (p.Val969Ile) | Inborn genetic diseases [RCV002980016]|Pseudohypoaldosteronism type 2B [RCV005021741] | uncertain significance | 17 | 42795326 | 42795326 | Human | 2 | name |
| 329385989 | CV2428163 | single nucleotide variant | NM_032387.5(WNK4):c.2671A>G (p.Thr891Ala) | Inborn genetic diseases [RCV003189501] | uncertain significance | 17 | 42795092 | 42795092 | Human | 1 | name |
| 329392630 | CV2439078 | single nucleotide variant | NM_032387.5(WNK4):c.1328C>T (p.Ala443Val) | Inborn genetic diseases [RCV003192762]|Pseudohypoaldosteronism type 2B [RCV005021845] | uncertain significance | 17 | 42785334 | 42785334 | Human | 2 | name |
| 329370580 | CV2461769 | single nucleotide variant | NM_032387.5(WNK4):c.2422G>A (p.Gly808Arg) | Inborn genetic diseases [RCV003209453] | uncertain significance | 17 | 42794843 | 42794843 | Human | 1 | name |
| 329351550 | CV2462097 | single nucleotide variant | NM_032387.5(WNK4):c.2902C>G (p.Pro968Ala) | Inborn genetic diseases [RCV003199870] | uncertain significance | 17 | 42795323 | 42795323 | Human | 1 | name |
| 401767214 | CV2681530 | single nucleotide variant | NM_032387.5(WNK4):c.2839G>A (p.Gly947Arg) | Inborn genetic diseases [RCV003259739] | uncertain significance | 17 | 42795260 | 42795260 | Human | 1 | name |
| 401728192 | CV2685939 | single nucleotide variant | NM_032387.5(WNK4):c.1241G>C (p.Arg414Pro) | Inborn genetic diseases [RCV003270480]|not provided [RCV005102548] | uncertain significance | 17 | 42785167 | 42785167 | Human | 1 | name |
| 401746966 | CV2698749 | single nucleotide variant | NM_032387.5(WNK4):c.1459G>A (p.Glu487Lys) | Inborn genetic diseases [RCV003242114]|Pseudohypoaldosteronism type 2B [RCV005012845] | likely benign|uncertain significance | 17 | 42785465 | 42785465 | Human | 2 | name |
| 401778409 | CV2709088 | single nucleotide variant | NM_032387.5(WNK4):c.1370T>A (p.Leu457Gln) | Inborn genetic diseases [RCV003287050] | uncertain significance | 17 | 42785376 | 42785376 | Human | 1 | name |
| 401772538 | CV2712782 | single nucleotide variant | NM_032387.5(WNK4):c.2357T>C (p.Leu786Pro) | Inborn genetic diseases [RCV003261881] | uncertain significance | 17 | 42794778 | 42794778 | Human | 1 | name |
| 401744341 | CV2730689 | single nucleotide variant | NM_032387.5(WNK4):c.1829C>T (p.Ser610Phe) | Inborn genetic diseases [RCV003293286] | uncertain significance | 17 | 42787865 | 42787865 | Human | 1 | name |
| 401796423 | CV2740607 | single nucleotide variant | NM_032387.5(WNK4):c.1294T>C (p.Phe432Leu) | not provided [RCV003321277] | uncertain significance | 17 | 42785300 | 42785300 | Human | | name |
| 401870801 | CV2766380 | single nucleotide variant | NM_032387.5(WNK4):c.2326G>A (p.Val776Ile) | Inborn genetic diseases [RCV003361339]|not provided [RCV003730548] | likely benign|uncertain significance | 17 | 42794644 | 42794644 | Human | 1 | name |
| 401890405 | CV2768189 | single nucleotide variant | NM_032387.5(WNK4):c.1352C>G (p.Pro451Arg) | Inborn genetic diseases [RCV003354408]|Pseudohypoaldosteronism type 2B [RCV005021921] | uncertain significance | 17 | 42785358 | 42785358 | Human | 2 | name |
| 401882246 | CV2781594 | single nucleotide variant | NM_032387.5(WNK4):c.1300G>A (p.Glu434Lys) | Inborn genetic diseases [RCV003365223] | uncertain significance | 17 | 42785306 | 42785306 | Human | 1 | name |
| 402489295 | CV2862057 | single nucleotide variant | NM_032387.5(WNK4):c.2723C>T (p.Pro908Leu) | Inborn genetic diseases [RCV004963685]|Pseudohypoaldosteronism type 2B [RCV005022010]|not provided [RCV003544789] | likely benign|uncertain significance | 17 | 42795144 | 42795144 | Human | 2 | name |
| 405210131 | CV2866939 | single nucleotide variant | NM_032387.5(WNK4):c.1564G>T (p.Glu522Ter) | not provided [RCV003552382] | uncertain significance | 17 | 42787365 | 42787365 | Human | | name |
| 405193438 | CV2872193 | duplication | NM_032387.5(WNK4):c.3653dup (p.Ser1219fs) | not provided [RCV003550561] | uncertain significance | 17 | 42796501 | 42796502 | Human | | name |
| 405191441 | CV2875818 | single nucleotide variant | NM_032387.5(WNK4):c.2185G>C (p.Glu729Gln) | not provided [RCV003550431] | uncertain significance | 17 | 42793619 | 42793619 | Human | | name |
| 405155902 | CV2894361 | single nucleotide variant | NM_032387.5(WNK4):c.1352C>T (p.Pro451Leu) | Pseudohypoaldosteronism type 2B [RCV005014763]|not provided [RCV003561976] | uncertain significance | 17 | 42785358 | 42785358 | Human | 1 | name |
| 402472068 | CV2912142 | single nucleotide variant | NM_032387.5(WNK4):c.1694A>C (p.Gln565Pro) | not provided [RCV003570707] | uncertain significance | 17 | 42787495 | 42787495 | Human | | name |
| 405086099 | CV2943191 | single nucleotide variant | NM_032387.5(WNK4):c.1090T>G (p.Cys364Gly) | not provided [RCV003664961] | uncertain significance | 17 | 42784499 | 42784499 | Human | | name |
| 405071818 | CV2946562 | single nucleotide variant | NM_032387.5(WNK4):c.1967G>A (p.Gly656Glu) | Pseudohypoaldosteronism type 2B [RCV005014820]|not provided [RCV003659391] | uncertain significance | 17 | 42788334 | 42788334 | Human | 1 | name |
| 405242958 | CV3043865 | single nucleotide variant | NM_032387.5(WNK4):c.2807C>T (p.Thr936Ile) | not provided [RCV003719623] | uncertain significance | 17 | 42795228 | 42795228 | Human | | name |
| 405253597 | CV3044452 | single nucleotide variant | NM_032387.5(WNK4):c.2575A>C (p.Thr859Pro) | not provided [RCV003722512] | uncertain significance | 17 | 42794996 | 42794996 | Human | | name |
| 405221183 | CV3060139 | single nucleotide variant | NM_032387.5(WNK4):c.1862C>T (p.Ser621Leu) | Pseudohypoaldosteronism type 2B [RCV005014913]|not provided [RCV003733335] | uncertain significance | 17 | 42787898 | 42787898 | Human | 1 | name |
| 405232837 | CV3157651 | single nucleotide variant | NM_032387.5(WNK4):c.1481C>G (p.Ala494Gly) | not provided [RCV003865601] | uncertain significance | 17 | 42787282 | 42787282 | Human | | name |
| 405158412 | CV3159805 | single nucleotide variant | NM_032387.5(WNK4):c.1913C>G (p.Pro638Arg) | not provided [RCV003856876] | uncertain significance | 17 | 42788179 | 42788179 | Human | | name |
| 402502846 | CV3181131 | deletion | NM_032387.5(WNK4):c.3715del (p.Asp1239fs) | not provided [RCV003878148] | uncertain significance | 17 | 42796561 | 42796561 | Human | | name |
| 405654112 | CV3228110 | single nucleotide variant | NM_032387.5(WNK4):c.2447C>G (p.Pro816Arg) | Pseudohypoaldosteronism type 2B [RCV005015114]|not specified [RCV003994844] | uncertain significance | 17 | 42794868 | 42794868 | Human | 1 | name |
| 11617651 | CV328537 | single nucleotide variant | NM_032387.5(WNK4):c.1523G>A (p.Arg508His) | Pseudohypoaldosteronism type 2B [RCV000306761]|not provided [RCV002056600] | likely benign | 17 | 42787324 | 42787324 | Human | 1 | name |
| 11618780 | CV328538 | single nucleotide variant | NM_032387.5(WNK4):c.1664C>G (p.Pro555Arg) | Pseudohypoaldosteronism type 2B [RCV000318029]|not provided [RCV000962593] | benign|likely benign | 17 | 42787465 | 42787465 | Human | 1 | name |
| 11622555 | CV328556 | single nucleotide variant | NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg) | Inborn genetic diseases [RCV002521110]|Pseudohypoaldosteronism type 2A [RCV000362014]|Pseudohypoaldosteronism type 2B [RCV005016712] | likely benign|uncertain significance | 17 | 42795258 | 42795258 | Human | 4 | name |
| 11613087 | CV328566 | single nucleotide variant | NM_032387.5(WNK4):c.2842C>A (p.Leu948Ile) | Pseudohypoaldosteronism type 2B [RCV000265130] | benign|likely benign | 17 | 42795263 | 42795263 | Human | 1 | name |
| 405812046 | CV3352885 | single nucleotide variant | NM_032387.5(WNK4):c.1160A>G (p.Lys387Arg) | Inborn genetic diseases [RCV004483085] | uncertain significance | 17 | 42784569 | 42784569 | Human | 1 | name |
| 405812050 | CV3352887 | single nucleotide variant | NM_032387.5(WNK4):c.1469A>G (p.Gln490Arg) | Inborn genetic diseases [RCV004483087]|Pseudohypoaldosteronism type 2B [RCV005015151] | uncertain significance | 17 | 42785475 | 42785475 | Human | 2 | name |
| 405812052 | CV3352888 | single nucleotide variant | NM_032387.5(WNK4):c.1522C>T (p.Arg508Cys) | Inborn genetic diseases [RCV004483088]|Pseudohypoaldosteronism type 2B [RCV005006422] | uncertain significance | 17 | 42787323 | 42787323 | Human | 2 | name |
| 405812054 | CV3352889 | single nucleotide variant | NM_032387.5(WNK4):c.1556G>A (p.Arg519Gln) | Inborn genetic diseases [RCV004483089] | uncertain significance | 17 | 42787357 | 42787357 | Human | 1 | name |
| 405812055 | CV3352890 | single nucleotide variant | NM_032387.5(WNK4):c.1816G>C (p.Gly606Arg) | Inborn genetic diseases [RCV004483090] | uncertain significance | 17 | 42787852 | 42787852 | Human | 1 | name |
| 405812057 | CV3352891 | single nucleotide variant | NM_032387.5(WNK4):c.2111G>A (p.Arg704Gln) | Inborn genetic diseases [RCV004483091] | uncertain significance | 17 | 42788751 | 42788751 | Human | 1 | name |
| 405812063 | CV3352894 | single nucleotide variant | NM_032387.5(WNK4):c.2657C>T (p.Thr886Met) | Inborn genetic diseases [RCV004483094] | likely benign | 17 | 42795078 | 42795078 | Human | 1 | name |
| 405812065 | CV3352895 | single nucleotide variant | NM_032387.5(WNK4):c.2980C>T (p.Arg994Trp) | Inborn genetic diseases [RCV004483095]|Pseudohypoaldosteronism type 2B [RCV005015152] | uncertain significance | 17 | 42795479 | 42795479 | Human | 2 | name |
| 405812067 | CV3352896 | single nucleotide variant | NM_032387.5(WNK4):c.2981G>A (p.Arg994Gln) | Inborn genetic diseases [RCV004483096]|Pseudohypoaldosteronism type 2B [RCV005015153] | uncertain significance | 17 | 42795480 | 42795480 | Human | 2 | name |
| 11621230 | CV338482 | single nucleotide variant | NM_032387.5(WNK4):c.1339G>A (p.Asp447Asn) | Pseudohypoaldosteronism type 2B [RCV000346224] | likely benign|uncertain significance | 17 | 42785345 | 42785345 | Human | 1 | name |
| 11618554 | CV338493 | single nucleotide variant | NM_032387.5(WNK4):c.1574G>A (p.Arg525His) | Pseudohypoaldosteronism type 2B [RCV000314959] | benign|likely benign | 17 | 42787375 | 42787375 | Human | 1 | name |
| 11623833 | CV338502 | single nucleotide variant | NM_032387.5(WNK4):c.1885C>T (p.Arg629Cys) | Pseudohypoaldosteronism type 2B [RCV000378074]|not provided [RCV001840486] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 42788151 | 42788151 | Human | 1 | name |
| 11623119 | CV338507 | single nucleotide variant | NM_032387.5(WNK4):c.2474C>T (p.Pro825Leu) | Pseudohypoaldosteronism type 2B [RCV000368894]|not provided [RCV000968742] | benign | 17 | 42794895 | 42794895 | Human | 1 | name |
| 11624281 | CV338509 | single nucleotide variant | NM_032387.5(WNK4):c.2900C>G (p.Pro967Arg) | Pseudohypoaldosteronism type 2B [RCV000384224] | uncertain significance | 17 | 42795321 | 42795321 | Human | 1 | name |
| 11626247 | CV344566 | single nucleotide variant | NM_032387.5(WNK4):c.1801G>T (p.Ala601Ser) | Pseudohypoaldosteronism type 2B [RCV000259612]|not provided [RCV001723910] | benign | 17 | 42787837 | 42787837 | Human | 1 | name |
| 11627640 | CV344567 | single nucleotide variant | NM_032387.5(WNK4):c.1853G>T (p.Cys618Phe) | Pseudohypoaldosteronism type 2B [RCV000286594]|not provided [RCV002522970] | benign|likely benign | 17 | 42787889 | 42787889 | Human | 1 | name |
| 11632249 | CV344570 | single nucleotide variant | NM_032387.5(WNK4):c.2005C>T (p.Arg669Trp) | Inborn genetic diseases [RCV003243078]|Pseudohypoaldosteronism type 2B [RCV000402811]|not provided [RCV002522972] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 42788372 | 42788372 | Human | 2 | name |
| 11627871 | CV344571 | single nucleotide variant | NM_032387.5(WNK4):c.2207G>A (p.Arg736Gln) | Pseudohypoaldosteronism type 2B [RCV000289222] | benign|likely benign | 17 | 42793641 | 42793641 | Human | 1 | name |
| 11630472 | CV344582 | single nucleotide variant | NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln) | Pseudohypoaldosteronism type 2B [RCV000351244]|not provided [RCV002521109]|not specified [RCV004701410] | benign|likely benign|uncertain significance | 17 | 42793647 | 42793647 | Human | 1 | name |
| 11628452 | CV344593 | single nucleotide variant | NM_032387.5(WNK4):c.2588T>G (p.Leu863Arg) | Pseudohypoaldosteronism type 2B [RCV000301297] | benign|likely benign | 17 | 42795009 | 42795009 | Human | 1 | name |
| 11629582 | CV344596 | single nucleotide variant | NM_032387.5(WNK4):c.2881C>T (p.Pro961Ser) | Pseudohypoaldosteronism type 2B [RCV000327309]|not provided [RCV001528080] | benign | 17 | 42795302 | 42795302 | Human | 1 | name |
| 11627881 | CV345975 | single nucleotide variant | NM_032387.5(WNK4):c.1888T>C (p.Ser630Pro) | Pseudohypoaldosteronism type 2B [RCV000290625]|WNK4-related disorder [RCV003950102]|not provided [RCV002522971] | benign|likely benign | 17 | 42788154 | 42788154 | Human | 1 | name , trait , alternate_id |
| 11628914 | CV345978 | single nucleotide variant | NM_032387.5(WNK4):c.2369C>A (p.Thr790Asn) | Pseudohypoaldosteronism type 2B [RCV000311885]|not provided [RCV000953043]|not specified [RCV004782356] | benign|likely benign | 17 | 42794790 | 42794790 | Human | 1 | name |
| 11630587 | CV345980 | single nucleotide variant | NM_032387.5(WNK4):c.2672C>T (p.Thr891Met) | Pseudohypoaldosteronism type 2B [RCV000354003]|not provided [RCV000971123] | benign|likely benign | 17 | 42795093 | 42795093 | Human | 1 | name |
| 407524746 | CV3487943 | single nucleotide variant | NM_032387.5(WNK4):c.2611G>A (p.Glu871Lys) | Inborn genetic diseases [RCV004678539]|Pseudohypoaldosteronism type 2B [RCV005015235] | uncertain significance | 17 | 42795032 | 42795032 | Human | 2 | name |
| 407524753 | CV3487946 | single nucleotide variant | NM_032387.5(WNK4):c.2212C>T (p.Arg738Trp) | Inborn genetic diseases [RCV004678542]|Pseudohypoaldosteronism type 2B [RCV005017205] | likely benign|uncertain significance | 17 | 42793646 | 42793646 | Human | 2 | name |
| 407524767 | CV3487953 | single nucleotide variant | NM_032387.5(WNK4):c.2453C>T (p.Ser818Phe) | Inborn genetic diseases [RCV004678548] | uncertain significance | 17 | 42794874 | 42794874 | Human | 1 | name |
| 407524774 | CV3487957 | single nucleotide variant | NM_032387.5(WNK4):c.2747C>T (p.Pro916Leu) | Inborn genetic diseases [RCV004678551] | uncertain significance | 17 | 42795168 | 42795168 | Human | 1 | name |
| 408386221 | CV3522423 | single nucleotide variant | NM_032387.5(WNK4):c.1562G>A (p.Arg521His) | Inborn genetic diseases [RCV004968633]|Pseudohypoaldosteronism type 2B [RCV005017262]|not provided [RCV004767783] | uncertain significance | 17 | 42787363 | 42787363 | Human | 2 | name |
| 596945938 | CV3550307 | single nucleotide variant | NM_032387.5(WNK4):c.2263A>G (p.Met755Val) | Pseudohypoaldosteronism type 2B [RCV004818846] | uncertain significance | 17 | 42793697 | 42793697 | Human | 1 | name |
| 597631007 | CV3624169 | single nucleotide variant | NM_032387.5(WNK4):c.2656A>G (p.Thr886Ala) | Inborn genetic diseases [RCV004967478]|not provided [RCV005110004] | likely benign|uncertain significance | 17 | 42795077 | 42795077 | Human | 1 | name |
| 597631009 | CV3624170 | single nucleotide variant | NM_032387.5(WNK4):c.2344T>C (p.Ser782Pro) | Inborn genetic diseases [RCV004967479] | uncertain significance | 17 | 42794662 | 42794662 | Human | 1 | name |
| 597628066 | CV3624172 | single nucleotide variant | NM_032387.5(WNK4):c.2234A>T (p.Glu745Val) | Inborn genetic diseases [RCV004967480]|Pseudohypoaldosteronism type 2B [RCV005017322] | uncertain significance | 17 | 42793668 | 42793668 | Human | 2 | name |
| 597631016 | CV3624176 | single nucleotide variant | NM_032387.5(WNK4):c.1603C>T (p.Pro535Ser) | Inborn genetic diseases [RCV004967484] | uncertain significance | 17 | 42787404 | 42787404 | Human | 1 | name |
| 597631019 | CV3624177 | single nucleotide variant | NM_032387.5(WNK4):c.1561C>T (p.Arg521Cys) | Inborn genetic diseases [RCV004967485] | uncertain significance | 17 | 42787362 | 42787362 | Human | 1 | name |
| 597631021 | CV3624178 | single nucleotide variant | NM_032387.5(WNK4):c.1134C>G (p.Cys378Trp) | Inborn genetic diseases [RCV004967486] | uncertain significance | 17 | 42784543 | 42784543 | Human | 1 | name |
| 597631023 | CV3624179 | single nucleotide variant | NM_032387.5(WNK4):c.2771T>A (p.Leu924His) | Inborn genetic diseases [RCV004967487] | uncertain significance | 17 | 42795192 | 42795192 | Human | 1 | name |
| 597631037 | CV3624185 | single nucleotide variant | NM_032387.5(WNK4):c.2782A>G (p.Ser928Gly) | Inborn genetic diseases [RCV004967493] | uncertain significance | 17 | 42795203 | 42795203 | Human | 1 | name |
| 12791738 | CV362585 | single nucleotide variant | NM_032387.5(WNK4):c.1679A>G (p.Glu560Gly) | Pseudohypoaldosteronism type 2B [RCV000417202] | pathogenic|not provided | 17 | 42787480 | 42787480 | Human | 1 | name |
| 12791736 | CV362586 | single nucleotide variant | NM_032387.5(WNK4):c.1682C>T (p.Pro561Leu) | Pseudohypoaldosteronism type 2B [RCV000417199] | pathogenic|not provided | 17 | 42787483 | 42787483 | Human | 1 | name |
| 12791739 | CV362587 | single nucleotide variant | NM_032387.5(WNK4):c.1690G>C (p.Asp564His) | Pseudohypoaldosteronism type 2B [RCV000417204] | pathogenic|not provided | 17 | 42787491 | 42787491 | Human | 1 | name |
| 597769405 | CV3709048 | single nucleotide variant | NM_032387.5(WNK4):c.1033C>G (p.Pro345Ala) | Pseudohypoaldosteronism type 2B [RCV005020268] | uncertain significance | 17 | 42784442 | 42784442 | Human | 1 | name |
| 597769411 | CV3709049 | single nucleotide variant | NM_032387.5(WNK4):c.1040T>C (p.Met347Thr) | Pseudohypoaldosteronism type 2B [RCV005020269]|not provided [RCV005112672] | uncertain significance | 17 | 42784449 | 42784449 | Human | 1 | name |
| 597769734 | CV3709050 | single nucleotide variant | NM_032387.5(WNK4):c.1102A>G (p.Met368Val) | Pseudohypoaldosteronism type 2B [RCV005020270] | uncertain significance | 17 | 42784511 | 42784511 | Human | 1 | name |
| 597769423 | CV3709051 | single nucleotide variant | NM_032387.5(WNK4):c.1121C>T (p.Pro374Leu) | Pseudohypoaldosteronism type 2B [RCV005020271] | uncertain significance | 17 | 42784530 | 42784530 | Human | 1 | name |
| 597769435 | CV3709053 | single nucleotide variant | NM_032387.5(WNK4):c.1210G>A (p.Glu404Lys) | Pseudohypoaldosteronism type 2B [RCV005020273] | uncertain significance | 17 | 42785136 | 42785136 | Human | 1 | name |
| 597769442 | CV3709054 | single nucleotide variant | NM_032387.5(WNK4):c.1232G>A (p.Gly411Asp) | Pseudohypoaldosteronism type 2B [RCV005020274] | uncertain significance | 17 | 42785158 | 42785158 | Human | 1 | name |
| 597769448 | CV3709055 | single nucleotide variant | NM_032387.5(WNK4):c.1287C>A (p.His429Gln) | Pseudohypoaldosteronism type 2B [RCV005020275] | uncertain significance | 17 | 42785293 | 42785293 | Human | 1 | name |
| 597769453 | CV3709056 | single nucleotide variant | NM_032387.5(WNK4):c.1318G>A (p.Val440Met) | Pseudohypoaldosteronism type 2B [RCV005020276] | uncertain significance | 17 | 42785324 | 42785324 | Human | 1 | name |
| 597769458 | CV3709057 | single nucleotide variant | NM_032387.5(WNK4):c.1333G>C (p.Glu445Gln) | Pseudohypoaldosteronism type 2B [RCV005020277] | uncertain significance | 17 | 42785339 | 42785339 | Human | 1 | name |
| 597717000 | CV3709059 | single nucleotide variant | NM_032387.5(WNK4):c.1360A>G (p.Lys454Glu) | Pseudohypoaldosteronism type 2B [RCV005010237] | uncertain significance | 17 | 42785366 | 42785366 | Human | 1 | name |
| 597716990 | CV3709060 | single nucleotide variant | NM_032387.5(WNK4):c.1387C>T (p.Arg463Trp) | Pseudohypoaldosteronism type 2B [RCV005010238] | uncertain significance | 17 | 42785393 | 42785393 | Human | 1 | name |
| 597769465 | CV3709061 | single nucleotide variant | NM_032387.5(WNK4):c.1412A>G (p.Asn471Ser) | Pseudohypoaldosteronism type 2B [RCV005020278] | uncertain significance | 17 | 42785418 | 42785418 | Human | 1 | name |
| 597716979 | CV3709062 | single nucleotide variant | NM_032387.5(WNK4):c.1458G>T (p.Glu486Asp) | Pseudohypoaldosteronism type 2B [RCV005010239] | uncertain significance | 17 | 42785464 | 42785464 | Human | 1 | name |
| 597769476 | CV3709065 | single nucleotide variant | NM_032387.5(WNK4):c.1526C>T (p.Ala509Val) | Pseudohypoaldosteronism type 2B [RCV005020280] | likely benign | 17 | 42787327 | 42787327 | Human | 1 | name |
| 597769481 | CV3709066 | single nucleotide variant | NM_032387.5(WNK4):c.1573C>T (p.Arg525Cys) | Pseudohypoaldosteronism type 2B [RCV005020281] | uncertain significance | 17 | 42787374 | 42787374 | Human | 1 | name |
| 597769486 | CV3709067 | single nucleotide variant | NM_032387.5(WNK4):c.1583G>A (p.Arg528Lys) | Pseudohypoaldosteronism type 2B [RCV005020282] | uncertain significance | 17 | 42787384 | 42787384 | Human | 1 | name |
| 597769494 | CV3709068 | single nucleotide variant | NM_032387.5(WNK4):c.1598T>C (p.Leu533Pro) | Pseudohypoaldosteronism type 2B [RCV005020283] | uncertain significance | 17 | 42787399 | 42787399 | Human | 1 | name |
| 597769499 | CV3709069 | single nucleotide variant | NM_032387.5(WNK4):c.1645G>A (p.Gly549Ser) | Pseudohypoaldosteronism type 2B [RCV005020284] | uncertain significance | 17 | 42787446 | 42787446 | Human | 1 | name |
| 597769504 | CV3709070 | single nucleotide variant | NM_032387.5(WNK4):c.1664C>A (p.Pro555His) | Pseudohypoaldosteronism type 2B [RCV005020285] | uncertain significance | 17 | 42787465 | 42787465 | Human | 1 | name |
| 597769515 | CV3709072 | single nucleotide variant | NM_032387.5(WNK4):c.1714C>T (p.Arg572Cys) | Pseudohypoaldosteronism type 2B [RCV005020287] | uncertain significance | 17 | 42787515 | 42787515 | Human | 1 | name |
| 597769523 | CV3709073 | single nucleotide variant | NM_032387.5(WNK4):c.1715G>A (p.Arg572His) | Inborn genetic diseases [RCV005301476]|Pseudohypoaldosteronism type 2B [RCV005020288] | uncertain significance | 17 | 42787516 | 42787516 | Human | 2 | name |
| 597769533 | CV3709075 | single nucleotide variant | NM_032387.5(WNK4):c.1720G>T (p.Ala574Ser) | Pseudohypoaldosteronism type 2B [RCV005020290] | uncertain significance | 17 | 42787521 | 42787521 | Human | 1 | name |
| 597769543 | CV3709077 | single nucleotide variant | NM_032387.5(WNK4):c.1768A>G (p.Ser590Gly) | Pseudohypoaldosteronism type 2B [RCV005020292] | uncertain significance | 17 | 42787804 | 42787804 | Human | 1 | name |
| 597769551 | CV3709078 | single nucleotide variant | NM_032387.5(WNK4):c.1777G>A (p.Gly593Ser) | Pseudohypoaldosteronism type 2B [RCV005020293] | uncertain significance | 17 | 42787813 | 42787813 | Human | 1 | name |
| 597769556 | CV3709079 | single nucleotide variant | NM_032387.5(WNK4):c.1813C>T (p.Pro605Ser) | Pseudohypoaldosteronism type 2B [RCV005020294] | uncertain significance | 17 | 42787849 | 42787849 | Human | 1 | name |
| 597769571 | CV3709082 | single nucleotide variant | NM_032387.5(WNK4):c.1906T>G (p.Phe636Val) | Pseudohypoaldosteronism type 2B [RCV005020297] | uncertain significance | 17 | 42788172 | 42788172 | Human | 1 | name |
| 597769578 | CV3709083 | single nucleotide variant | NM_032387.5(WNK4):c.1912C>T (p.Pro638Ser) | Pseudohypoaldosteronism type 2B [RCV005020298]|not provided [RCV005112674] | uncertain significance | 17 | 42788178 | 42788178 | Human | 1 | name |
| 597769585 | CV3709084 | single nucleotide variant | NM_032387.5(WNK4):c.1940C>T (p.Ala647Val) | Pseudohypoaldosteronism type 2B [RCV005020299] | uncertain significance | 17 | 42788307 | 42788307 | Human | 1 | name |
| 597769590 | CV3709085 | single nucleotide variant | NM_032387.5(WNK4):c.1961G>C (p.Gly654Ala) | Pseudohypoaldosteronism type 2B [RCV005020300] | uncertain significance | 17 | 42788328 | 42788328 | Human | 1 | name |
| 597769602 | CV3709087 | single nucleotide variant | NM_032387.5(WNK4):c.1991C>T (p.Pro664Leu) | Pseudohypoaldosteronism type 2B [RCV005020302] | uncertain significance | 17 | 42788358 | 42788358 | Human | 1 | name |
| 597769739 | CV3709088 | single nucleotide variant | NM_032387.5(WNK4):c.1993G>A (p.Gly665Arg) | Pseudohypoaldosteronism type 2B [RCV005020303] | uncertain significance | 17 | 42788360 | 42788360 | Human | 1 | name |
| 597769743 | CV3709089 | single nucleotide variant | NM_032387.5(WNK4):c.2014C>G (p.Pro672Ala) | Pseudohypoaldosteronism type 2B [RCV005020304] | uncertain significance | 17 | 42788381 | 42788381 | Human | 1 | name |
| 597769748 | CV3709090 | single nucleotide variant | NM_032387.5(WNK4):c.2017C>G (p.Arg673Gly) | Pseudohypoaldosteronism type 2B [RCV005020305] | uncertain significance | 17 | 42788384 | 42788384 | Human | 1 | name |
| 597769753 | CV3709091 | single nucleotide variant | NM_032387.5(WNK4):c.2087A>G (p.His696Arg) | Pseudohypoaldosteronism type 2B [RCV005020306] | uncertain significance | 17 | 42788727 | 42788727 | Human | 1 | name |
| 597769758 | CV3709092 | single nucleotide variant | NM_032387.5(WNK4):c.2102T>C (p.Val701Ala) | Pseudohypoaldosteronism type 2B [RCV005020307] | uncertain significance | 17 | 42788742 | 42788742 | Human | 1 | name |
| 597769767 | CV3709094 | single nucleotide variant | NM_032387.5(WNK4):c.2188C>T (p.Arg730Ter) | Pseudohypoaldosteronism type 2B [RCV005020309] | uncertain significance | 17 | 42793622 | 42793622 | Human | 1 | name |
| 597769773 | CV3709095 | single nucleotide variant | NM_032387.5(WNK4):c.2244G>C (p.Leu748Phe) | Pseudohypoaldosteronism type 2B [RCV005020310] | uncertain significance | 17 | 42793678 | 42793678 | Human | 1 | name |
| 597769783 | CV3709097 | single nucleotide variant | NM_032387.5(WNK4):c.2338G>C (p.Asp780His) | Pseudohypoaldosteronism type 2B [RCV005020312] | uncertain significance | 17 | 42794656 | 42794656 | Human | 1 | name |
| 597769788 | CV3709098 | single nucleotide variant | NM_032387.5(WNK4):c.2340C>A (p.Asp780Glu) | Pseudohypoaldosteronism type 2B [RCV005020313] | uncertain significance | 17 | 42794658 | 42794658 | Human | 1 | name |
| 597769798 | CV3709100 | single nucleotide variant | NM_032387.5(WNK4):c.2402C>T (p.Ser801Phe) | Pseudohypoaldosteronism type 2B [RCV005020315] | uncertain significance | 17 | 42794823 | 42794823 | Human | 1 | name |
| 597769812 | CV3709103 | single nucleotide variant | NM_032387.5(WNK4):c.2618C>T (p.Pro873Leu) | Pseudohypoaldosteronism type 2B [RCV005020318] | uncertain significance | 17 | 42795039 | 42795039 | Human | 1 | name |
| 597769817 | CV3709104 | single nucleotide variant | NM_032387.5(WNK4):c.2643G>A (p.Trp881Ter) | Pseudohypoaldosteronism type 2B [RCV005020319] | uncertain significance | 17 | 42795064 | 42795064 | Human | 1 | name |
| 597769822 | CV3709105 | single nucleotide variant | NM_032387.5(WNK4):c.2668C>G (p.Pro890Ala) | Pseudohypoaldosteronism type 2B [RCV005020320] | uncertain significance | 17 | 42795089 | 42795089 | Human | 1 | name |
| 597769826 | CV3709106 | single nucleotide variant | NM_032387.5(WNK4):c.2680C>G (p.Pro894Ala) | Inborn genetic diseases [RCV005301477]|Pseudohypoaldosteronism type 2B [RCV005020321] | uncertain significance | 17 | 42795101 | 42795101 | Human | 2 | name |
| 597769836 | CV3709108 | single nucleotide variant | NM_032387.5(WNK4):c.2764C>T (p.Pro922Ser) | Pseudohypoaldosteronism type 2B [RCV005020323] | uncertain significance | 17 | 42795185 | 42795185 | Human | 1 | name |
| 597769841 | CV3709109 | single nucleotide variant | NM_032387.5(WNK4):c.2869C>G (p.Pro957Ala) | Pseudohypoaldosteronism type 2B [RCV005020324] | uncertain significance | 17 | 42795290 | 42795290 | Human | 1 | name |
| 597769846 | CV3709111 | single nucleotide variant | NM_032387.5(WNK4):c.2915G>C (p.Gly972Ala) | Pseudohypoaldosteronism type 2B [RCV005020325] | uncertain significance | 17 | 42795336 | 42795336 | Human | 1 | name |
| 597769855 | CV3709112 | single nucleotide variant | NM_032387.5(WNK4):c.2987T>C (p.Leu996Pro) | Pseudohypoaldosteronism type 2B [RCV005020327] | uncertain significance | 17 | 42795486 | 42795486 | Human | 1 | name |
| 597769973 | CV3709137 | deletion | NM_032387.5(WNK4):c.3702del (p.Thr1235fs) | Pseudohypoaldosteronism type 2B [RCV005020351] | uncertain significance | 17 | 42796551 | 42796551 | Human | 1 | name |
| 597862851 | CV3745239 | single nucleotide variant | NM_032387.5(WNK4):c.2219T>C (p.Ile740Thr) | not provided [RCV005067595] | likely benign | 17 | 42793653 | 42793653 | Human | | name |
| 597946224 | CV3755524 | single nucleotide variant | NM_032387.5(WNK4):c.2321T>C (p.Leu774Pro) | not provided [RCV005078533] | uncertain significance | 17 | 42794639 | 42794639 | Human | | name |
| 597881576 | CV3763850 | single nucleotide variant | NM_032387.5(WNK4):c.1310G>A (p.Gly437Asp) | not provided [RCV005109250] | uncertain significance | 17 | 42785316 | 42785316 | Human | | name |
| 597881601 | CV3763854 | single nucleotide variant | NM_032387.5(WNK4):c.2750C>T (p.Ser917Phe) | not provided [RCV005109254] | uncertain significance | 17 | 42795171 | 42795171 | Human | | name |
| 597876884 | CV3766706 | single nucleotide variant | NM_032387.5(WNK4):c.2228G>A (p.Arg743Gln) | not provided [RCV005108646] | likely benign | 17 | 42793662 | 42793662 | Human | | name |
| 597878630 | CV3813712 | single nucleotide variant | NM_032387.5(WNK4):c.2014C>T (p.Pro672Ser) | not provided [RCV005149454] | uncertain significance | 17 | 42788381 | 42788381 | Human | | name |
| 597956439 | CV3817970 | single nucleotide variant | NM_032387.5(WNK4):c.2812G>T (p.Ala938Ser) | not provided [RCV005162421] | uncertain significance | 17 | 42795233 | 42795233 | Human | | name |
| 597925609 | CV3840417 | single nucleotide variant | NM_032387.5(WNK4):c.1342G>T (p.Gly448Cys) | Inborn genetic diseases [RCV005303517]|not provided [RCV005184886] | uncertain significance | 17 | 42785348 | 42785348 | Human | 1 | name |
| 598160098 | CV3897219 | single nucleotide variant | NM_032387.5(WNK4):c.1240C>A (p.Arg414Ser) | not provided [RCV005368193] | uncertain significance | 17 | 42785166 | 42785166 | Human | | name |
| 598275499 | CV3937139 | single nucleotide variant | NM_032387.5(WNK4):c.2162A>G (p.Tyr721Cys) | Inborn genetic diseases [RCV005304633] | uncertain significance | 17 | 42793596 | 42793596 | Human | 1 | name |
| 598275501 | CV3937142 | single nucleotide variant | NM_032387.5(WNK4):c.1865C>G (p.Ala622Gly) | Inborn genetic diseases [RCV005304635] | uncertain significance | 17 | 42788131 | 42788131 | Human | 1 | name |
| 598275502 | CV3937144 | single nucleotide variant | NM_032387.5(WNK4):c.2093G>A (p.Ser698Asn) | Inborn genetic diseases [RCV005304636] | uncertain significance | 17 | 42788733 | 42788733 | Human | 1 | name |
| 598236040 | CV3937145 | single nucleotide variant | NM_032387.5(WNK4):c.2308C>G (p.Pro770Ala) | Inborn genetic diseases [RCV005295950] | uncertain significance | 17 | 42794626 | 42794626 | Human | 1 | name |
| 598190037 | CV4008780 | single nucleotide variant | NM_032387.5(WNK4):c.1547C>A (p.Ala516Asp) | Pseudohypoaldosteronism type 2B [RCV005396279] | uncertain significance | 17 | 42787348 | 42787348 | Human | 1 | name |
| 598190051 | CV4008782 | single nucleotide variant | NM_032387.5(WNK4):c.2033T>C (p.Val678Ala) | Pseudohypoaldosteronism type 2B [RCV005396281] | uncertain significance | 17 | 42788400 | 42788400 | Human | 1 | name |
| 13832147 | CV582639 | deletion | NM_032387.5(WNK4):c.3293del (p.Gly1098fs) | Pseudohypoaldosteronism type 2B [RCV005021125]|not provided [RCV000722831] | uncertain significance | 17 | 42795891 | 42795891 | Human | 1 | name |
| 15017060 | CV681811 | single nucleotide variant | NM_032387.5(WNK4):c.2009G>A (p.Arg670His) | Pseudohypoaldosteronism type 2B [RCV000855411] | uncertain significance | 17 | 42788376 | 42788376 | Human | 1 | name |
| 15098716 | CV727190 | single nucleotide variant | NM_032387.5(WNK4):c.2224C>G (p.Gln742Glu) | not provided [RCV000891801] | benign | 17 | 42793658 | 42793658 | Human | | name |
| 8621585 | CV75559 | single nucleotide variant | NM_032387.5(WNK4):c.1222A>T (p.Ile408Phe) | not provided [RCV000054781] | uncertain significance | 17 | 42785148 | 42785148 | Human | | name |
| 8621586 | CV75560 | single nucleotide variant | NM_032387.5(WNK4):c.1323A>T (p.Glu441Asp) | Pseudohypoaldosteronism type 2B [RCV001127252]|not provided [RCV000054782] | benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 42785329 | 42785329 | Human | 1 | name |
| 8621587 | CV75561 | single nucleotide variant | NM_032387.5(WNK4):c.1444C>T (p.Arg482Trp) | not provided [RCV000054783] | uncertain significance | 17 | 42785450 | 42785450 | Human | | name |
| 8621588 | CV75562 | single nucleotide variant | NM_032387.5(WNK4):c.1892G>A (p.Gly631Asp) | not provided [RCV000054784] | uncertain significance | 17 | 42788158 | 42788158 | Human | | name |
| 8621589 | CV75563 | single nucleotide variant | NM_032387.5(WNK4):c.2084C>G (p.Thr695Ser) | not provided [RCV000054785] | uncertain significance | 17 | 42788724 | 42788724 | Human | | name |
| 8621590 | CV75564 | single nucleotide variant | NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser) | Pseudohypoaldosteronism type 2B [RCV000396383]|WNK4-related disorder [RCV003905017]|not provided [RCV000054786] | benign|likely benign|uncertain significance | 17 | 42794897 | 42794897 | Human | 1 | name , trait , alternate_id |
| 28906811 | CV877578 | single nucleotide variant | NM_032387.5(WNK4):c.1073T>A (p.Val358Glu) | Pseudohypoaldosteronism type 2B [RCV001127251] | uncertain significance | 17 | 42784482 | 42784482 | Human | 1 | name |
| 28906814 | CV877579 | single nucleotide variant | NM_032387.5(WNK4):c.1357C>T (p.Leu453Phe) | Pseudohypoaldosteronism type 2B [RCV001127253] | uncertain significance | 17 | 42785363 | 42785363 | Human | 1 | name |
| 28906815 | CV877580 | single nucleotide variant | NM_032387.5(WNK4):c.1405C>T (p.Arg469Trp) | Inborn genetic diseases [RCV004963137]|Pseudohypoaldosteronism type 2B [RCV001127254] | benign|uncertain significance | 17 | 42785411 | 42785411 | Human | 2 | name |
| 28897403 | CV877581 | single nucleotide variant | NM_032387.5(WNK4):c.1414C>G (p.Gln472Glu) | Inborn genetic diseases [RCV002556661]|Pseudohypoaldosteronism type 2B [RCV001123185]|not provided [RCV003727878] | benign|likely benign|uncertain significance | 17 | 42785420 | 42785420 | Human | 2 | name |
| 28900236 | CV877583 | single nucleotide variant | NM_032387.5(WNK4):c.1666C>A (p.Pro556Thr) | Pseudohypoaldosteronism type 2B [RCV001124269]|not provided [RCV002070026] | benign|likely benign | 17 | 42787467 | 42787467 | Human | 1 | name |
| 28907033 | CV877587 | single nucleotide variant | NM_032387.5(WNK4):c.2029C>T (p.Arg677Trp) | Pseudohypoaldosteronism type 2B [RCV001127352]|WNK4-related disorder [RCV003918719]|not provided [RCV002558256] | benign|likely benign | 17 | 42788396 | 42788396 | Human | 1 | name , trait , alternate_id |
| 28907036 | CV877588 | single nucleotide variant | NM_032387.5(WNK4):c.2030G>A (p.Arg677Gln) | Pseudohypoaldosteronism type 2B [RCV001127353] | likely benign | 17 | 42788397 | 42788397 | Human | 1 | name |
| 28907039 | CV877589 | single nucleotide variant | NM_032387.5(WNK4):c.2264T>A (p.Met755Lys) | Pseudohypoaldosteronism type 2B [RCV001127354] | uncertain significance | 17 | 42793698 | 42793698 | Human | 1 | name |
| 28907042 | CV877590 | single nucleotide variant | NM_032387.5(WNK4):c.2297A>G (p.Glu766Gly) | Pseudohypoaldosteronism type 2B [RCV001127355] | likely benign | 17 | 42794615 | 42794615 | Human | 1 | name |
| 28897649 | CV877591 | single nucleotide variant | NM_032387.5(WNK4):c.2348A>G (p.Asn783Ser) | Inborn genetic diseases [RCV004032247]|Pseudohypoaldosteronism type 2B [RCV001123283]|not provided [RCV004710240] | benign|likely benign | 17 | 42794666 | 42794666 | Human | 2 | name |
| 28900579 | CV877595 | single nucleotide variant | NM_032387.5(WNK4):c.2681C>T (p.Pro894Leu) | Pseudohypoaldosteronism type 2B [RCV001124388] | uncertain significance | 17 | 42795102 | 42795102 | Human | 1 | name |
| 28900504 | CV877597 | single nucleotide variant | NM_032387.5(WNK4):c.2860C>T (p.Pro954Ser) | Pseudohypoaldosteronism type 2B [RCV001124390] | uncertain significance | 17 | 42795281 | 42795281 | Human | 1 | name |
| 42722837 | CV985354 | single nucleotide variant | NM_032387.5(WNK4):c.1510C>T (p.Gln504Ter) | Pseudohypoaldosteronism type 2B [RCV005019658]|not provided [RCV003085882]|not specified [RCV004587427] | pathogenic|likely benign|uncertain significance | 17 | 42787311 | 42787311 | Human | 1 | name |
| 126729841 | CV986090 | single nucleotide variant | NM_032387.5(WNK4):c.2017C>T (p.Arg673Ter) | not provided [RCV003565816] | pathogenic|uncertain significance | 17 | 42788384 | 42788384 | Human | | name |
| 156344626 | CV1871638 | single nucleotide variant | NM_032387.5(WNK4):c.3503G>A (p.Gly1168Glu) | Pseudohypoaldosteronism type 2B [RCV005019590]|not provided [RCV003064446] | uncertain significance | 17 | 42796194 | 42796194 | Human | 1 | name |
| 156047069 | CV1887546 | single nucleotide variant | NM_032387.5(WNK4):c.3182G>C (p.Gly1061Ala) | Inborn genetic diseases [RCV003089664]|not provided [RCV003078738]|not specified [RCV003151441] | uncertain significance | 17 | 42795784 | 42795784 | Human | 1 | name |
| 156321791 | CV1978725 | single nucleotide variant | NM_032387.5(WNK4):c.3550A>G (p.Ser1184Gly) | not provided [RCV002630395] | uncertain significance | 17 | 42796241 | 42796241 | Human | | name |
| 156015448 | CV2043991 | single nucleotide variant | NM_032387.5(WNK4):c.3559C>T (p.Arg1187Cys) | Inborn genetic diseases [RCV002795325]|not provided [RCV002781457] | uncertain significance | 17 | 42796250 | 42796250 | Human | 1 | name |
| 156140211 | CV2109868 | single nucleotide variant | NM_032387.5(WNK4):c.3187G>A (p.Gly1063Arg) | Inborn genetic diseases [RCV002928526]|not provided [RCV002928527] | uncertain significance | 17 | 42795789 | 42795789 | Human | 1 | name |
| 155902450 | CV2127036 | single nucleotide variant | NM_032387.5(WNK4):c.3693C>G (p.Ser1231Arg) | not provided [RCV002967506] | benign | 17 | 42796542 | 42796542 | Human | | name |
| 156385101 | CV2128371 | single nucleotide variant | NM_032387.5(WNK4):c.3593G>A (p.Arg1198His) | not provided [RCV002943428]|not specified [RCV003226561] | benign|likely benign|uncertain significance | 17 | 42796284 | 42796284 | Human | | name |
| 155916829 | CV2239846 | single nucleotide variant | NM_032387.5(WNK4):c.3418A>T (p.Ser1140Cys) | Inborn genetic diseases [RCV002772417] | uncertain significance | 17 | 42796020 | 42796020 | Human | 1 | name |
| 8597616 | CV22702 | single nucleotide variant | NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) | Pseudohypoaldosteronism type 2B [RCV000008102]|not provided [RCV000731744] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 17 | 42796244 | 42796244 | Human | 1 | name |
| 156344818 | CV2294239 | single nucleotide variant | NM_032387.5(WNK4):c.3046C>T (p.Arg1016Cys) | Inborn genetic diseases [RCV002900724]|Pseudohypoaldosteronism type 2B [RCV005021717] | uncertain significance | 17 | 42795648 | 42795648 | Human | 2 | name |
| 156395445 | CV2329193 | single nucleotide variant | NM_032387.5(WNK4):c.3281C>G (p.Pro1094Arg) | Inborn genetic diseases [RCV002944556] | uncertain significance | 17 | 42795883 | 42795883 | Human | 1 | name |
| 155986009 | CV2344008 | single nucleotide variant | NM_032387.5(WNK4):c.3474A>T (p.Lys1158Asn) | Inborn genetic diseases [RCV002947096] | uncertain significance | 17 | 42796165 | 42796165 | Human | 1 | name |
| 243062085 | CV2414291 | single nucleotide variant | NM_032387.5(WNK4):c.3676C>T (p.Gln1226Ter) | Pseudohypoaldosteronism type 2B [RCV003139360] | uncertain significance | 17 | 42796525 | 42796525 | Human | 1 | name |
| 243062086 | CV2414292 | single nucleotide variant | NM_032387.5(WNK4):c.3242G>A (p.Gly1081Glu) | Pseudohypoaldosteronism type 2B [RCV003139361] | uncertain significance | 17 | 42795844 | 42795844 | Human | 1 | name |
| 405129843 | CV3054567 | single nucleotide variant | NM_032387.5(WNK4):c.3479T>C (p.Ile1160Thr) | Inborn genetic diseases [RCV004963782]|not provided [RCV003724727]|not specified [RCV004783096] | uncertain significance | 17 | 42796170 | 42796170 | Human | 1 | name |
| 405081741 | CV3137463 | single nucleotide variant | NM_032387.5(WNK4):c.3424C>T (p.Arg1142Trp) | Pseudohypoaldosteronism type 2B [RCV005015016]|not provided [RCV003834172] | uncertain significance | 17 | 42796026 | 42796026 | Human | 1 | name |
| 405153124 | CV3163058 | single nucleotide variant | NM_032387.5(WNK4):c.3490T>C (p.Tyr1164His) | Pseudohypoaldosteronism type 2B [RCV005015045]|not provided [RCV003856501] | uncertain significance | 17 | 42796181 | 42796181 | Human | 1 | name |
| 402473260 | CV3172138 | single nucleotide variant | NM_032387.5(WNK4):c.3709G>A (p.Ala1237Thr) | not provided [RCV003874741] | uncertain significance | 17 | 42796558 | 42796558 | Human | | name |
| 11624993 | CV328570 | single nucleotide variant | NM_032387.5(WNK4):c.3595C>A (p.Arg1199Ser) | Pseudohypoaldosteronism type 2B [RCV000393657] | benign|likely benign | 17 | 42796286 | 42796286 | Human | 1 | name |
| 405812069 | CV3352897 | single nucleotide variant | NM_032387.5(WNK4):c.3119G>A (p.Gly1040Asp) | Inborn genetic diseases [RCV004483097]|Pseudohypoaldosteronism type 2B [RCV005015154] | uncertain significance | 17 | 42795721 | 42795721 | Human | 2 | name |
| 405812071 | CV3352898 | single nucleotide variant | NM_032387.5(WNK4):c.3497G>A (p.Arg1166Gln) | Inborn genetic diseases [RCV004483098] | uncertain significance | 17 | 42796188 | 42796188 | Human | 1 | name |
| 405812073 | CV3352899 | single nucleotide variant | NM_032387.5(WNK4):c.3521G>T (p.Gly1174Val) | Inborn genetic diseases [RCV004483099] | uncertain significance | 17 | 42796212 | 42796212 | Human | 1 | name |
| 405812075 | CV3352900 | single nucleotide variant | NM_032387.5(WNK4):c.3532C>A (p.Pro1178Thr) | Inborn genetic diseases [RCV004483100] | uncertain significance | 17 | 42796223 | 42796223 | Human | 1 | name |
| 405812077 | CV3352901 | single nucleotide variant | NM_032387.5(WNK4):c.3535G>T (p.Ala1179Ser) | Inborn genetic diseases [RCV004483101] | uncertain significance | 17 | 42796226 | 42796226 | Human | 1 | name |
| 405812079 | CV3352902 | single nucleotide variant | NM_032387.5(WNK4):c.3542T>C (p.Met1181Thr) | Inborn genetic diseases [RCV004483102] | uncertain significance | 17 | 42796233 | 42796233 | Human | 1 | name |
| 11619698 | CV338511 | single nucleotide variant | NM_032387.5(WNK4):c.3074C>T (p.Pro1025Leu) | Pseudohypoaldosteronism type 2B [RCV000328268]|not provided [RCV000948453] | benign|likely benign | 17 | 42795676 | 42795676 | Human | 1 | name |
| 11631744 | CV344603 | single nucleotide variant | NM_032387.5(WNK4):c.3251T>C (p.Val1084Ala) | Pseudohypoaldosteronism type 2B [RCV000387384]|not provided [RCV000912774] | benign|likely benign | 17 | 42795853 | 42795853 | Human | 1 | name |
| 11628026 | CV345983 | single nucleotide variant | NM_032387.5(WNK4):c.3518C>A (p.Pro1173Gln) | Pseudohypoaldosteronism type 2B [RCV000293015]|not provided [RCV003556335] | benign|likely benign | 17 | 42796209 | 42796209 | Human | 1 | name |
| 11630535 | CV345984 | single nucleotide variant | NM_032387.5(WNK4):c.3523A>G (p.Ile1175Val) | Pseudohypoaldosteronism type 2B [RCV000352617] | uncertain significance | 17 | 42796214 | 42796214 | Human | 1 | name |
| 11627349 | CV345994 | single nucleotide variant | NM_032387.5(WNK4):c.3610C>T (p.Arg1204Cys) | Pseudohypoaldosteronism type 2B [RCV000279946]|not provided [RCV000883389] | benign|likely benign | 17 | 42796301 | 42796301 | Human | 1 | name |
| 407524748 | CV3487944 | single nucleotide variant | NM_032387.5(WNK4):c.3712G>A (p.Gly1238Arg) | Inborn genetic diseases [RCV004678540]|Pseudohypoaldosteronism type 2B [RCV005015236]|not provided [RCV005103517] | uncertain significance | 17 | 42796561 | 42796561 | Human | 2 | name |
| 407524768 | CV3487954 | single nucleotide variant | NM_032387.5(WNK4):c.3287T>C (p.Val1096Ala) | Inborn genetic diseases [RCV004678549] | uncertain significance | 17 | 42795889 | 42795889 | Human | 1 | name |
| 407465484 | CV3487956 | single nucleotide variant | NM_032387.5(WNK4):c.3055G>A (p.Val1019Met) | Inborn genetic diseases [RCV004688780] | uncertain significance | 17 | 42795657 | 42795657 | Human | 1 | name |
| 408379968 | CV3509030 | single nucleotide variant | NM_032387.5(WNK4):c.3563G>A (p.Arg1188His) | Pseudohypoaldosteronism type 2B [RCV005017238]|WNK4-related disorder [RCV004753846] | uncertain significance | 17 | 42796254 | 42796254 | Human | 1 | name , trait , alternate_id |
| 596942243 | CV3544030 | single nucleotide variant | NM_032387.5(WNK4):c.3265G>C (p.Asp1089His) | not specified [RCV004800020] | uncertain significance | 17 | 42795867 | 42795867 | Human | | name |
| 597631011 | CV3624174 | single nucleotide variant | NM_032387.5(WNK4):c.3425G>A (p.Arg1142Gln) | Inborn genetic diseases [RCV004967482]|not provided [RCV005110005] | uncertain significance | 17 | 42796027 | 42796027 | Human | 1 | name |
| 597631029 | CV3624182 | single nucleotide variant | NM_032387.5(WNK4):c.3680A>C (p.Glu1227Ala) | Inborn genetic diseases [RCV004967490] | uncertain significance | 17 | 42796529 | 42796529 | Human | 1 | name |
| 597631034 | CV3624184 | single nucleotide variant | NM_032387.5(WNK4):c.3047G>T (p.Arg1016Leu) | Inborn genetic diseases [RCV004967492] | uncertain significance | 17 | 42795649 | 42795649 | Human | 1 | name |
| 12791740 | CV362588 | single nucleotide variant | NM_032387.5(WNK4):c.3505A>G (p.Lys1169Glu) | Pseudohypoaldosteronism type 2B [RCV000417205] | pathogenic|not provided | 17 | 42796196 | 42796196 | Human | 1 | name |
| 597769860 | CV3709113 | single nucleotide variant | NM_032387.5(WNK4):c.3008C>T (p.Ala1003Val) | Pseudohypoaldosteronism type 2B [RCV005020328] | uncertain significance | 17 | 42795507 | 42795507 | Human | 1 | name |
| 597769864 | CV3709114 | single nucleotide variant | NM_032387.5(WNK4):c.3011C>T (p.Pro1004Leu) | Pseudohypoaldosteronism type 2B [RCV005020329] | uncertain significance | 17 | 42795510 | 42795510 | Human | 1 | name |
| 597769869 | CV3709115 | single nucleotide variant | NM_032387.5(WNK4):c.3058A>C (p.Thr1020Pro) | Pseudohypoaldosteronism type 2B [RCV005020330] | uncertain significance | 17 | 42795660 | 42795660 | Human | 1 | name |
| 597769874 | CV3709116 | single nucleotide variant | NM_032387.5(WNK4):c.3067A>G (p.Lys1023Glu) | Pseudohypoaldosteronism type 2B [RCV005020331] | uncertain significance | 17 | 42795669 | 42795669 | Human | 1 | name |
| 597769879 | CV3709117 | single nucleotide variant | NM_032387.5(WNK4):c.3154G>C (p.Glu1052Gln) | Pseudohypoaldosteronism type 2B [RCV005020332] | uncertain significance | 17 | 42795756 | 42795756 | Human | 1 | name |
| 597769884 | CV3709118 | single nucleotide variant | NM_032387.5(WNK4):c.3251T>G (p.Val1084Gly) | Pseudohypoaldosteronism type 2B [RCV005020333] | uncertain significance | 17 | 42795853 | 42795853 | Human | 1 | name |
| 597769889 | CV3709119 | single nucleotide variant | NM_032387.5(WNK4):c.3308T>C (p.Leu1103Pro) | Pseudohypoaldosteronism type 2B [RCV005020334] | uncertain significance | 17 | 42795910 | 42795910 | Human | 1 | name |
| 597769894 | CV3709120 | single nucleotide variant | NM_032387.5(WNK4):c.3316C>G (p.Pro1106Ala) | Pseudohypoaldosteronism type 2B [RCV005020335] | uncertain significance | 17 | 42795918 | 42795918 | Human | 1 | name |
| 597769898 | CV3709121 | single nucleotide variant | NM_032387.5(WNK4):c.3400T>C (p.Phe1134Leu) | Pseudohypoaldosteronism type 2B [RCV005020336] | uncertain significance | 17 | 42796002 | 42796002 | Human | 1 | name |
| 597769903 | CV3709122 | single nucleotide variant | NM_032387.5(WNK4):c.3480T>G (p.Ile1160Met) | Pseudohypoaldosteronism type 2B [RCV005020337] | uncertain significance | 17 | 42796171 | 42796171 | Human | 1 | name |
| 597769908 | CV3709124 | single nucleotide variant | NM_032387.5(WNK4):c.3511C>G (p.Pro1171Ala) | Pseudohypoaldosteronism type 2B [RCV005020338] | uncertain significance | 17 | 42796202 | 42796202 | Human | 1 | name |
| 597769915 | CV3709125 | single nucleotide variant | NM_032387.5(WNK4):c.3520G>T (p.Gly1174Cys) | Pseudohypoaldosteronism type 2B [RCV005020339] | uncertain significance | 17 | 42796211 | 42796211 | Human | 1 | name |
| 597769920 | CV3709126 | single nucleotide variant | NM_032387.5(WNK4):c.3554G>A (p.Arg1185His) | Pseudohypoaldosteronism type 2B [RCV005020340] | uncertain significance | 17 | 42796245 | 42796245 | Human | 1 | name |
| 597769925 | CV3709127 | single nucleotide variant | NM_032387.5(WNK4):c.3560G>A (p.Arg1187His) | Pseudohypoaldosteronism type 2B [RCV005020341] | uncertain significance | 17 | 42796251 | 42796251 | Human | 1 | name |
| 597769930 | CV3709128 | single nucleotide variant | NM_032387.5(WNK4):c.3596G>A (p.Arg1199His) | Inborn genetic diseases [RCV005301478]|Pseudohypoaldosteronism type 2B [RCV005020342]|not provided [RCV005112675] | uncertain significance | 17 | 42796287 | 42796287 | Human | 2 | name |
| 597769939 | CV3709130 | single nucleotide variant | NM_032387.5(WNK4):c.3628C>T (p.Pro1210Ser) | Pseudohypoaldosteronism type 2B [RCV005020344] | uncertain significance | 17 | 42796319 | 42796319 | Human | 1 | name |
| 597769944 | CV3709131 | single nucleotide variant | NM_032387.5(WNK4):c.3634A>G (p.Ile1212Val) | Pseudohypoaldosteronism type 2B [RCV005020345] | uncertain significance | 17 | 42796483 | 42796483 | Human | 1 | name |
| 597769949 | CV3709132 | single nucleotide variant | NM_032387.5(WNK4):c.3641G>A (p.Arg1214Gln) | Pseudohypoaldosteronism type 2B [RCV005020346] | uncertain significance | 17 | 42796490 | 42796490 | Human | 1 | name |
| 597769954 | CV3709133 | single nucleotide variant | NM_032387.5(WNK4):c.3653T>C (p.Leu1218Pro) | Pseudohypoaldosteronism type 2B [RCV005020347] | uncertain significance | 17 | 42796502 | 42796502 | Human | 1 | name |
| 597769959 | CV3709134 | single nucleotide variant | NM_032387.5(WNK4):c.3661A>G (p.Ser1221Gly) | Pseudohypoaldosteronism type 2B [RCV005020348] | uncertain significance | 17 | 42796510 | 42796510 | Human | 1 | name |
| 597769964 | CV3709135 | single nucleotide variant | NM_032387.5(WNK4):c.3685C>T (p.Arg1229Trp) | Pseudohypoaldosteronism type 2B [RCV005020349] | likely benign | 17 | 42796534 | 42796534 | Human | 1 | name |
| 597769968 | CV3709136 | single nucleotide variant | NM_032387.5(WNK4):c.3700G>A (p.Val1234Met) | Pseudohypoaldosteronism type 2B [RCV005020350] | uncertain significance | 17 | 42796549 | 42796549 | Human | 1 | name |
| 597881611 | CV3763855 | single nucleotide variant | NM_032387.5(WNK4):c.3088C>A (p.Pro1030Thr) | not provided [RCV005109255] | uncertain significance | 17 | 42795690 | 42795690 | Human | | name |
| 597922698 | CV3839842 | single nucleotide variant | NM_032387.5(WNK4):c.3515C>T (p.Pro1172Leu) | not provided [RCV005184581] | uncertain significance | 17 | 42796206 | 42796206 | Human | | name |
| 597952850 | CV3843848 | single nucleotide variant | NM_032387.5(WNK4):c.3421C>G (p.Leu1141Val) | not provided [RCV005190710] | uncertain significance | 17 | 42796023 | 42796023 | Human | | name |
| 598236034 | CV3937140 | single nucleotide variant | NM_032387.5(WNK4):c.3518C>T (p.Pro1173Leu) | Inborn genetic diseases [RCV005295948] | uncertain significance | 17 | 42796209 | 42796209 | Human | 1 | name |
| 598275503 | CV3937146 | single nucleotide variant | NM_032387.5(WNK4):c.3125C>T (p.Pro1042Leu) | Inborn genetic diseases [RCV005304637] | likely benign | 17 | 42795727 | 42795727 | Human | 1 | name |
| 598275504 | CV3937147 | single nucleotide variant | NM_032387.5(WNK4):c.3525T>G (p.Ile1175Met) | Inborn genetic diseases [RCV005304638] | uncertain significance | 17 | 42796216 | 42796216 | Human | 1 | name |
| 598190060 | CV4008783 | single nucleotide variant | NM_032387.5(WNK4):c.3041T>C (p.Val1014Ala) | Pseudohypoaldosteronism type 2B [RCV005396282] | uncertain significance | 17 | 42795643 | 42795643 | Human | 1 | name |
| 13512737 | CV485863 | single nucleotide variant | NM_032387.5(WNK4):c.3659G>T (p.Gly1220Val) | Pseudohypoaldosteronism type 2B [RCV000584086] | uncertain significance | 17 | 42796508 | 42796508 | Human | 1 | name |
| 15151846 | CV740778 | single nucleotide variant | NM_032387.5(WNK4):c.3032C>G (p.Pro1011Arg) | Pseudohypoaldosteronism type 2B [RCV001125382]|WNK4-related disorder [RCV003968255]|not provided [RCV000901445]|not specified [RCV004526784] | benign|likely benign | 17 | 42795634 | 42795634 | Human | 1 | name , trait , alternate_id |
| 8621593 | CV75567 | single nucleotide variant | NM_032387.5(WNK4):c.3536C>T (p.Ala1179Val) | not provided [RCV000054789] | uncertain significance | 17 | 42796227 | 42796227 | Human | | name |
| 28902844 | CV877598 | single nucleotide variant | NM_032387.5(WNK4):c.3032C>T (p.Pro1011Leu) | Inborn genetic diseases [RCV005286315]|Pseudohypoaldosteronism type 2B [RCV001125383] | likely benign|uncertain significance | 17 | 42795634 | 42795634 | Human | 2 | name |
| 28902847 | CV877599 | single nucleotide variant | NM_032387.5(WNK4):c.3223C>T (p.Arg1075Cys) | Pseudohypoaldosteronism type 2B [RCV001125384] | uncertain significance | 17 | 42795825 | 42795825 | Human | 1 | name |
| 28902851 | CV877600 | single nucleotide variant | NM_032387.5(WNK4):c.3409G>A (p.Glu1137Lys) | Pseudohypoaldosteronism type 2B [RCV001125385] | uncertain significance | 17 | 42796011 | 42796011 | Human | 1 | name |
| 28907262 | CV877601 | single nucleotide variant | NM_032387.5(WNK4):c.3440C>T (p.Ser1147Leu) | Pseudohypoaldosteronism type 2B [RCV001127472] | uncertain significance | 17 | 42796131 | 42796131 | Human | 1 | name |
| 28907265 | CV877602 | single nucleotide variant | NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys) | Inborn genetic diseases [RCV002556787]|Pseudohypoaldosteronism type 2B [RCV001127473] | uncertain significance | 17 | 42796286 | 42796286 | Human | 2 | name |
| 126729845 | CV986091 | single nucleotide variant | NM_032387.5(WNK4):c.3404G>A (p.Trp1135Ter) | Pseudohypoaldosteronism type 2B [RCV001293949] | pathogenic | 17 | 42796006 | 42796006 | Human | | name |
| 156446543 | CV1947889 | deletion | NM_032387.5(WNK4):c.531_532del (p.Ile178fs) | not provided [RCV003118052] | uncertain significance | 17 | 42781228 | 42781229 | Human | | name |
| 405171978 | CV3122514 | duplication | NM_032387.5(WNK4):c.665_668dup (p.Glu223fs) | not provided [RCV003819103] | uncertain significance | 17 | 42782803 | 42782804 | Human | | name |
| 401901699 | CV2804490 | microsatellite | NM_032387.5(WNK4):c.1675GAG[1] (p.Glu560del) | WNK4-related disorder [RCV003393132] | likely pathogenic | 17 | 42787476 | 42787478 | Human | | name , trait , alternate_id |
| 405176740 | CV3049472 | microsatellite | NM_032387.5(WNK4):c.2856TCC[1] (p.Pro954del) | not provided [RCV003728407] | uncertain significance | 17 | 42795276 | 42795278 | Human | | name |
| 597769595 | CV3709086 | microsatellite | NM_032387.5(WNK4):c.1980GAG[1] (p.Arg662del) | Pseudohypoaldosteronism type 2B [RCV005020301] | uncertain significance | 17 | 42788347 | 42788349 | Human | | name |
| 597769808 | CV3709102 | microsatellite | NM_032387.5(WNK4):c.2550CTC[1] (p.Ser852del) | Pseudohypoaldosteronism type 2B [RCV005020317] | uncertain significance | 17 | 42794971 | 42794973 | Human | | name |
| 15098720 | CV727191 | microsatellite | NM_032387.5(WNK4):c.2413TCT[1] (p.Ser806del) | not provided [RCV000891802] | benign | 17 | 42794834 | 42794836 | Human | | name |
| 243053632 | CV2416357 | microsatellite | NM_032387.5(WNK4):c.2629_2632del (p.Gln878fs) | not provided [RCV003149418] | uncertain significance | 17 | 42795047 | 42795050 | Human | | name |
| 597769729 | CV3709024 | indel | NM_032387.5(WNK4):c.91_92delinsAG (p.Ala31Arg) | Pseudohypoaldosteronism type 2B [RCV005020244] | uncertain significance | 17 | 42780789 | 42780790 | Human | | name |
| 597769803 | CV3709101 | deletion | NM_032387.5(WNK4):c.2533_2535del (p.Pro845del) | Pseudohypoaldosteronism type 2B [RCV005020316] | uncertain significance | 17 | 42794952 | 42794954 | Human | 1 | name |
| 597769538 | CV3709076 | indel | NM_032387.5(WNK4):c.1759_1760delinsTC (p.Gly587Ser) | Pseudohypoaldosteronism type 2B [RCV005020291] | uncertain significance | 17 | 42787795 | 42787796 | Human | | name |
| 13831831 | CV582328 | indel | NM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile) | Pseudohypoaldosteronism type 2B [RCV002493295]|not provided [RCV000722514] | uncertain significance | 17 | 42784504 | 42784505 | Human | | name |
| 597964083 | CV3837843 | deletion | NM_032387.5(WNK4):c.3307del (p.Pro1102_Leu1103insTer) | not provided [RCV005193827] | uncertain significance | 17 | 42795906 | 42795906 | Human | | name |