Total 192 pathogenic variants reported for Pseudohypoaldosteronism type 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter) SNV
Germline
Chr12:868697 Pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA117304 rs_111033591

4 SubmittersRCV000005475RCV000480631RCV000822434

NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu) SNV
Germline
Chr17:42787494 Pathogenic Pseudohypoaldosteronism type 2B Criteria Provided
Single Submitter
CA254225 rs_137853092

3 SubmittersRCV000008099

NM_032387.5(WNK4):c.1684G>A (p.Glu562Lys) SNV
Germline
Chr17:42787485 Pathogenic Pseudohypoaldosteronism type 2B No Assertion Criteria Provided
CA254226 rs_137853093

2 SubmittersRCV000008100

NM_032387.5(WNK4):c.1691A>C (p.Asp564Ala) SNV
Germline
Chr17:42787492 Pathogenic Pseudohypoaldosteronism type 2B No Assertion Criteria Provided
CA254227 rs_137853094

2 SubmittersRCV000008101

NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) SNV
Germline
Chr2:224503791 Pathogenic Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA129109 rs_199469656

2 SubmittersRCV000023258RCV000128493

NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) SNV
Germline
Chr5:137639916 Pathogenic Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA129301 rs_199469639

2 SubmittersRCV000023473RCV000128507

NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu) SNV
Germline
Chr5:137637386 Pathogenic Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA129302 rs_199469641

2 SubmittersRCV000023474RCV000128521

NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) SNV
Germline
Chr5:137628305 Pathogenic Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA129303 rs_199469636

4 SubmittersRCV000023475RCV000128519RCV002513190

NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) SNV
Germline
Chr5:137661950 Pathogenic Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A
Criteria Provided
Single Submitter
CA129304 rs_199469638

3 SubmittersRCV000023476RCV000128514

NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) SNV
Germline
Chr5:137639874 Pathogenic Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA129306 rs_199469640

2 SubmittersRCV000023477RCV000128515

NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) SNV
Germline
Chr5:137628306 Pathogenic/Likely pathogenic Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A
Criteria Provided
Multiple Submitters
No Conflicts
CA129308 rs_199469635

4 SubmittersRCV000023479RCV000128518

NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) SNV
Germline
Chr5:137637317 Pathogenic Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA129309 rs_199469632

2 SubmittersRCV000023480RCV000128523

NM_017415.3(KLHL3):c.1193C>T (p.Ala398Val) SNV
Germline
Chr5:137638979 Pathogenic Pseudohypoaldosteronism type 2D No Assertion Criteria Provided
CA129795 rs_387907155

1 SubmittersRCV000024252

NM_017415.3(KLHL3):c.1587C>A (p.Asn529Lys) SNV
Germline
Chr5:137628301 Pathogenic Pseudohypoaldosteronism type 2D No Assertion Criteria Provided
rs_562736621

1 SubmittersRCV000024253

NM_017415.3(KLHL3):c.1277C>T (p.Pro426Leu) SNV
Germline
Chr5:137637338 Pathogenic Pseudohypoaldosteronism type 2D No Assertion Criteria Provided
CA129796 rs_387907156

1 SubmittersRCV000024254

NM_003590.5(CUL3):c.1207-12T>G SNV
Germline
Chr2:224503834 Pathogenic Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA269954 rs_199469651

2 SubmittersRCV000023254RCV000128486

NM_003590.5(CUL3):c.1207-1G>A SNV
Germline
Chr2:224503823 Pathogenic Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA269955 rs_199469654

2 SubmittersRCV000023257RCV000128487

NM_003590.5(CUL3):c.1207-26A>G SNV
Germline
Chr2:224503848 Pathogenic Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA269956 rs_199469650

2 SubmittersRCV000023252RCV000128488

NM_003590.5(CUL3):c.1207-28T>G SNV
Germline
Chr2:224503850 Pathogenic Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA269957 rs_199469649

2 SubmittersRCV000023253RCV000128489

NM_003590.5(CUL3):c.1207-3C>T SNV
Germline
Chr2:224503825 Pathogenic Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA269958 rs_199469653

2 SubmittersRCV000023256RCV000128490

NM_003590.5(CUL3):c.1207-5T>A SNV
Germline
Chr2:224503827 Pathogenic Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
No Assertion Criteria Provided
CA269959 rs_199469652

2 SubmittersRCV000023255RCV000128491

NM_003590.5(CUL3):c.1236G>A (p.Leu412=) SNV
Germline
Chr2:224503793 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269960 rs_199469655

1 SubmittersRCV000128492

NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) SNV
Germline
Chr2:224503653 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269962 rs_199469658

1 SubmittersRCV000128494

NM_003590.5(CUL3):c.1377+1G>C SNV
Germline
Chr2:224503651 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269965 rs_199469660

1 SubmittersRCV000128497

NM_003590.5(CUL3):c.1377+3A>G SNV
Germline
Chr2:224503649 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269966 rs_199469661

1 SubmittersRCV000128498

NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) SNV
Germline
Chr5:137634077 Pathogenic Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D
No Assertion Criteria Provided
CA269967 rs_199469644

2 SubmittersRCV000128499RCV001610387

NM_017415.3(KLHL3):c.753+1G>A SNV
Germline
Chr5:137661914 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269970 rs_199469648

1 SubmittersRCV000128501

NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr) SNV
Germline
Chr5:137628408 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269972 rs_199469633

1 SubmittersRCV000128503

NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu) SNV
Germline
Chr5:137709761 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269973 rs_199469623

1 SubmittersRCV000128504

NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe) SNV
Germline
Chr5:137692320 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269974 rs_199469626

1 SubmittersRCV000128505

NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala) SNV
Germline
Chr5:137698396 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269975 rs_199469625

1 SubmittersRCV000128506

NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) SNV
Germline
Chr5:137637335 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269977 rs_199469642

1 SubmittersRCV000128509

NM_017415.3(KLHL3):c.232A>G (p.Met78Val) SNV
Germline
Chr5:137709759 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269978 rs_199469624

1 SubmittersRCV000128510

NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr) SNV
Germline
Chr5:137628387 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269979 rs_199469634

1 SubmittersRCV000128511

NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter) SNV
Germline
Chr5:137692381 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269980 rs_199469637

1 SubmittersRCV000128512

NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg) SNV
Germline
Chr5:137639955 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269982 rs_199469627

1 SubmittersRCV000128513

NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln) SNV
Germline
Chr5:137639021 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269983 rs_199469629

1 SubmittersRCV000128516

NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp) SNV
Germline
Chr5:137625765 Pathogenic Pseudohypoaldosteronism type 2A No Assertion Criteria Provided
CA269985 rs_199469646

1 SubmittersRCV000128520

NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) SNV
Germline
Chr5:137637320 Likely pathogenic Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D
Criteria Provided
Single Submitter
CA269986 rs_199469631

2 SubmittersRCV000128522RCV002477257

NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) SNV
Germline
Chr12:865122 Conflicting classifications of pathogenicity Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA235850 rs_786205473

5 SubmittersRCV000171203RCV000705508RCV002426814

NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) SNV
Germline
Chr12:883483 Conflicting classifications of pathogenicity Condition: not provided
Pseudohypoaldosteronism type 2C
not specified
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
WNK1-related disorder
Criteria Provided
Conflicting Classifications
CA240768 rs_72650720

7 SubmittersRCV000175092RCV000313205RCV000999891RCV001081613RCV002326955RCV003955035

NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) SNV
Germline
Chr12:896221 Conflicting classifications of pathogenicity Condition: not provided
Hereditary sensory and autonomic neuropathy type 2
Pseudohypoaldosteronism type 2A
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA242472 rs_201995891

5 SubmittersRCV000176498RCV000345610RCV000288019RCV002362898RCV001043119

NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg) SNV
Germline
Chr12:900651 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA202065 rs_72650768

4 SubmittersRCV000176681RCV002381573RCV002272159RCV000872951

NM_017415.3(KLHL3):c.1519G>A (p.Val507Ile) SNV
Germline
Chr5:137628369 Likely pathogenic Pseudohypoaldosteronism type 2D No Assertion Criteria Provided
CA279652 rs_863225302

1 SubmittersRCV000201955

NM_213655.5(WNK1):c.2398C>T (p.Gln800Ter) SNV
Germline
Chr12:867869 Pathogenic/Likely pathogenic Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Multiple Submitters
No Conflicts
CA10584438 rs_879254311

2 SubmittersRCV000236734RCV002518469

NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile) SNV
Germline
Chr12:868076 Conflicting classifications of pathogenicity Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6382210 rs_377073379

5 SubmittersRCV000237034RCV001052902RCV001334035RCV002429149

NM_003590.5(CUL3):c.1377G>A (p.Lys459=) SNV
Germline
Chr2:224503652 Likely pathogenic Pseudohypoaldosteronism type 2A Criteria Provided
Single Submitter
CA10602470 rs_886038765

1 SubmittersRCV000256456

NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) SNV
Germline
Chr12:896637 Conflicting classifications of pathogenicity Condition: not provided
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA6383340 rs_151331381

8 SubmittersRCV000321750RCV000382313RCV001081595

NM_018979.4(WNK1):c.1074C>T (p.Thr358=) SNV
Germline
Chr12:827183 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA6381881 rs_72648621

8 SubmittersRCV000278467RCV000378664RCV001081594

NM_003590.5(CUL3):c.*2272T>C SNV
Germline
Chr2:224471973 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10612582 rs_556914502

2 SubmittersRCV000380730RCV001141958RCV002274986

NM_003590.5(CUL3):c.*2130A>G SNV
Germline
Chr2:224472115 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided
Pseudohypoaldosteronism type 2E
Criteria Provided
Conflicting Classifications
CA10612590 rs_555995940

2 SubmittersRCV000292532RCV002274987RCV001143759

NM_003590.5(CUL3):c.*3665T>A SNV
Germline
Chr2:224470580 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Criteria Provided
Conflicting Classifications
CA10612909 rs_374191606

1 SubmittersRCV000371517RCV001143652

NM_003590.5(CUL3):c.*89A>T SNV
Germline
Chr2:224474156 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Criteria Provided
Conflicting Classifications
CA10612934 rs_192166927

1 SubmittersRCV000393904RCV001140228

NM_003590.5(CUL3):c.*3753T>C SNV
Germline
Chr2:224470492 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Criteria Provided
Conflicting Classifications
CA10614351 rs_558805673

1 SubmittersRCV000370481RCV001143650

NM_003590.5(CUL3):c.*294A>G SNV
Germline
Chr2:224473951 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10614375 rs_532967850

2 SubmittersRCV000371433RCV001140225RCV003311765

NM_017415.3(KLHL3):c.*2360G>A SNV
Germline
Chr5:137619738 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10619065 rs_533076689

1 SubmittersRCV000356476RCV001153999

NM_017415.3(KLHL3):c.*1583C>T SNV
Germline
Chr5:137620515 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10619068 rs_554048189

1 SubmittersRCV000350076RCV001154858

NM_017415.3(KLHL3):c.*299G>A SNV
Germline
Chr5:137621799 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10619084 rs_539132895

1 SubmittersRCV000293639RCV001154113

NM_017415.3(KLHL3):c.1021+5G>A SNV
Germline
Chr5:137639855 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3422320 rs_183499982

2 SubmittersRCV000366474RCV001156624RCV003718222

NM_017415.3(KLHL3):c.*4066C>T SNV
Germline
Chr5:137618032 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10620201 rs_544519958

1 SubmittersRCV000391622RCV001153902

NM_017415.3(KLHL3):c.*790G>A SNV
Germline
Chr5:137621308 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10620231 rs_572765305

1 SubmittersRCV000303268RCV001152838

NM_017415.3(KLHL3):c.*224G>T SNV
Germline
Chr5:137621874 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10620234 rs_536807069

1 SubmittersRCV000350908RCV001154114

NM_017415.3(KLHL3):c.*141C>T SNV
Germline
Chr5:137621957 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10622704 rs_189064290

1 SubmittersRCV000279955RCV001154117

NM_017415.3(KLHL3):c.756G>A (p.Thr252=) SNV
Germline
Chr5:137658278 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA3422390 rs_143617205

1 SubmittersRCV000278015RCV001151153

NM_017415.3(KLHL3):c.-303G>C SNV
Germline
Chr5:137735949 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10622737 rs_567542768

1 SubmittersRCV000367355RCV001156727

NM_017415.3(KLHL3):c.*1651C>T SNV
Germline
Chr5:137620447 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA10622780 rs_577834025

1 SubmittersRCV000292776RCV001154857

NM_017415.3(KLHL3):c.*39G>A SNV
Germline
Chr5:137622059 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Criteria Provided
Conflicting Classifications
CA3422096 rs_762735618

1 SubmittersRCV000399262RCV001154119

NM_018979.4(WNK1):c.2468A>G (p.His823Arg) SNV
Germline
Chr12:879667 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6382487 rs_56015776

3 SubmittersRCV000384816RCV000532276RCV000994765

NM_018979.4(WNK1):c.3899C>T (p.Ser1300Phe) SNV
Germline
Chr12:884703 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA6382893 rs_143361850

3 SubmittersRCV000281301RCV002338889RCV001240672

NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) SNV
Germline
Chr12:908664 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6383550 rs_146042595

6 SubmittersRCV000291824RCV000542452RCV001546004RCV002411199

NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser) SNV
Germline
Chr12:861226 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6382040 rs_146450828

5 SubmittersRCV000322058RCV000647879RCV001508679RCV002411203

NM_018979.4(WNK1):c.3354A>C (p.Pro1118=) SNV
Germline
Chr12:882055 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA6382748 rs_549781052

2 SubmittersRCV000325167RCV002520845

NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg) SNV
Germline
Chr17:42795258 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8584448 rs_200187290

2 SubmittersRCV000362014RCV002521110

NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) SNV
Germline
Chr12:754143 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6381812 rs_72647372

6 SubmittersRCV000286715RCV000558626RCV001812801RCV002356420

NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) SNV
Germline
Chr12:871331 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6382410 rs_147099510

6 SubmittersRCV000354117RCV000538924RCV001093112RCV002348045

NM_018979.4(WNK1):c.2652G>A (p.Ala884=) SNV
Germline
Chr12:879851 Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 2
Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6382530 rs_142528714

3 SubmittersRCV000302917RCV000359952RCV000647862RCV003391116

NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) SNV
Germline
Chr12:881768 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA6382686 rs_201379287

5 SubmittersRCV000383285RCV000647831RCV001535659RCV002374531RCV003323505

NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg) SNV
Germline
Chr12:886062 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6383097 rs_752078094

4 SubmittersRCV000383349RCV000687160RCV001770248RCV002356421

NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys) SNV
Germline
Chr12:896320 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6383290 rs_117016551

3 SubmittersRCV000315167RCV000875539RCV001812792

NM_018979.4(WNK1):c.295C>T (p.Pro99Ser) SNV
Germline
Chr12:753860 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA6381751 rs_563691424

2 SubmittersRCV000355967RCV001487120

NM_018979.4(WNK1):c.296C>T (p.Pro99Leu) SNV
Germline
Chr12:753861 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA6381752 rs_560595238

2 SubmittersRCV000333359RCV001859861

NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) SNV
Germline
Chr12:861247 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
WNK1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6382044 rs_149388376

6 SubmittersRCV000286984RCV000524948RCV001812802RCV003967906RCV002411204

NM_018979.4(WNK1):c.4384G>C (p.Gly1462Arg) SNV
Germline
Chr12:885188 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
CA6382967 rs_368621387

2 SubmittersRCV000358041RCV001350772

NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys) SNV
Germline
Chr12:896356 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6383295 rs_201766777

3 SubmittersRCV000367530RCV000647841RCV002365355

NM_032387.5(WNK4):c.1885C>T (p.Arg629Cys) SNV
Germline
Chr17:42788151 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8584147 rs_61755600

3 SubmittersRCV000378074RCV001840486

NM_032387.5(WNK4):c.2005C>T (p.Arg669Trp) SNV
Germline
Chr17:42788372 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8584179 rs_769815091

3 SubmittersRCV000402811RCV002522972RCV003243078

NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys) SNV
Germline
Chr12:865332 Conflicting classifications of pathogenicity Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
WNK1-related disorder
Criteria Provided
Conflicting Classifications
CA6382147 rs_72649848

6 SubmittersRCV000488140RCV001085123RCV001333783RCV002446950RCV003902736

NM_018979.4(WNK1):c.2401A>G (p.Ile801Val) SNV
Germline
Chr12:879600 Conflicting classifications of pathogenicity not specified
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
CA6382475 rs_139449198

2 SubmittersRCV000508056RCV000808107

NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu) SNV
Germline
Chr12:868842 Conflicting classifications of pathogenicity Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6382347 rs_201042606

4 SubmittersRCV000519535RCV000819734RCV002456022

NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile) SNV
Germline
Chr12:885993 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6383085 rs_375562377

4 SubmittersRCV000541660RCV001109296RCV002358560RCV003480680

NM_018979.4(WNK1):c.46C>T (p.Leu16=) SNV
Germline
Chr12:753611 Conflicting classifications of pathogenicity Condition: not provided
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
CA478082934 rs_1443431827

2 SubmittersRCV000596187RCV003767383

NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) SNV
Germline
Chr12:885948 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
WNK1-related disorder
Criteria Provided
Conflicting Classifications
CA6383073 rs_756614581

4 SubmittersRCV000647854RCV002358851RCV003420135

NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu) SNV
Germline
Chr12:896207 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6383270 rs_200979623

3 SubmittersRCV000647832RCV002261155RCV002360614

NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp) SNV
Germline
Chr12:908781 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA6383568 rs_56262445

4 SubmittersRCV000647838RCV002422364RCV003994064

NM_018979.4(WNK1):c.1269G>A (p.Ser423=) SNV
Germline
Chr12:830118 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
CA231474684 rs_955095527

2 SubmittersRCV000647845

NM_018979.4(WNK1):c.128C>G (p.Ala43Gly) SNV
Germline
Chr12:753693 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_775564750

3 SubmittersRCV000685026RCV001111895RCV002386157

NM_018979.4(WNK1):c.865T>C (p.Ser289Pro) SNV
Germline
Chr12:813747 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_200234585

5 SubmittersRCV000691306RCV002442441RCV003480773

NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) SNV
Germline
Chr12:896338 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_72650764

4 SubmittersRCV000692654RCV001108934RCV003482299RCV002360748

NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val) SNV
Germline
Chr12:885627 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_781667314

3 SubmittersRCV000706095RCV004026711

NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu) SNV
Germline
Chr12:878254 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_768622577

3 SubmittersRCV000703964RCV001111333RCV002343550

NM_018979.4(WNK1):c.7008A>G (p.Gln2336=) SNV
Germline
Chr12:908651 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_369782445

2 SubmittersRCV000695459RCV001114899

NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala) SNV
Germline
Chr12:885872 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_771546256

2 SubmittersRCV000714786RCV000714785RCV002067010

NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter) SNV
Germline
Chr12:868391 Pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_1478989689

3 SubmittersRCV000788052RCV001869016

NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys) SNV
Germline
Chr12:868004 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_200794710

3 SubmittersRCV000814722RCV001731942RCV003353051

NM_213655.5(WNK1):c.2636G>A (p.Trp879Ter) SNV
Germline
Chr12:868107 Pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter
rs_1592095957

1 SubmittersRCV000815973

NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter) SNV
Germline
Chr12:882032 Pathogenic Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Single Submitter
rs_1051081383

1 SubmittersRCV000797300

NM_018979.4(WNK1):c.3935G>A (p.Arg1312His) SNV
Germline
Chr12:884739 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_375565845

2 SubmittersRCV000798637RCV002334504

NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala) SNV
Germline
Chr12:884939 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_758763241

3 SubmittersRCV000803133RCV002336619

NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu) SNV
Germline
Chr12:896201 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_759895083

3 SubmittersRCV000807813RCV002363078RCV003392615

NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr) SNV
Germline
Chr12:896228 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_184764148

2 SubmittersRCV000817175RCV002363138

NM_018979.4(WNK1):c.5638G>A (p.Ala1880Thr) SNV
Germline
Chr12:896125 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Condition: not provided
WNK1-related disorder
Criteria Provided
Conflicting Classifications
rs_72650763

4 SubmittersRCV000875533RCV002354694RCV002462210RCV003948234

NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys) SNV
Germline
Chr12:879658 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_74056058

2 SubmittersRCV000951805RCV001811549

NM_018979.4(WNK1):c.264C>T (p.Ser88=) SNV
Germline
Chr12:753829 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
rs_773586473

2 SubmittersRCV001112360RCV001398871

NM_032387.5(WNK4):c.2157+6G>C SNV
Germline
Chr17:42788803 Conflicting classifications of pathogenicity Condition: not provided
Pseudohypoaldosteronism type 2B
not specified
Criteria Provided
Conflicting Classifications
rs_61755607

3 SubmittersRCV000938145RCV002488018RCV003489972

NM_018979.4(WNK1):c.459C>G (p.Pro153=) SNV
Germline
Chr12:754024 Conflicting classifications of pathogenicity Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_1446171264

2 SubmittersRCV000994761RCV002067606

NM_018979.4(WNK1):c.3492G>A (p.Val1164=) SNV
Germline
Chr12:883397 Conflicting classifications of pathogenicity Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_778613425

2 SubmittersRCV000994766RCV002068719

NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile) SNV
Germline
Chr12:868410 Conflicting classifications of pathogenicity not specified
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_372091476

5 SubmittersRCV001001222RCV001423306RCV001552917RCV002434393

NM_018979.4(WNK1):c.131C>T (p.Ala44Val) SNV
Germline
Chr12:753696 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_754447060

2 SubmittersRCV001067970

NM_018979.4(WNK1):c.473G>C (p.Ser158Thr) SNV
Germline
Chr12:754038 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_920732487

3 SubmittersRCV001051709RCV001113717RCV002339260

NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln) SNV
Germline
Chr12:865330 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_550716144

2 SubmittersRCV001052255RCV002445276

NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val) SNV
Germline
Chr12:868578 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_187534119

4 SubmittersRCV001038247RCV001566097RCV002320240

NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val) SNV
Germline
Chr12:887252 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_770566791

2 SubmittersRCV001043392

NM_018979.4(WNK1):c.5442G>A (p.Ala1814=) SNV
Germline
Chr12:889217 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_557930357

2 SubmittersRCV001071156

NM_018979.4(WNK1):c.126G>A (p.Ala42=) SNV
Germline
Chr12:753691 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
rs_935728437

2 SubmittersRCV001111894RCV001402878

NM_018979.4(WNK1):c.198T>C (p.Arg66=) SNV
Germline
Chr12:753763 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
rs_777517901

2 SubmittersRCV001111897RCV002555081

NM_018979.4(WNK1):c.209C>G (p.Ala70Gly) SNV
Germline
Chr12:753774 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_368280492

3 SubmittersRCV001112358RCV001213082RCV002418582

NM_018979.4(WNK1):c.3468C>G (p.Pro1156=) SNV
Germline
Chr12:883038 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
rs_753078534

2 SubmittersRCV001109194RCV002556136

NM_018979.4(WNK1):c.3698C>T (p.Ala1233Val) SNV
Germline
Chr12:883808 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_772922134

2 SubmittersRCV001111530RCV002327389

NM_018979.4(WNK1):c.4830G>A (p.Val1610=) SNV
Germline
Chr12:885634 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_1953580574

2 SubmittersRCV001109293RCV003769115

NM_018979.4(WNK1):c.5513C>T (p.Ser1838Phe) SNV
Germline
Chr12:894565 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
WNK1-related disorder
Criteria Provided
Conflicting Classifications
rs_747791200

3 SubmittersRCV001114567RCV002069847RCV003405322

NM_018979.4(WNK1):c.6497C>T (p.Thr2166Ile) SNV
Germline
Chr12:900524 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Conflicting Classifications
rs_762925275

2 SubmittersRCV001114898RCV001856512

NM_032387.5(WNK4):c.383C>G (p.Pro128Arg) SNV
Germline
Chr17:42781081 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_773898452

2 SubmittersRCV001126848RCV002556765

NM_032387.5(WNK4):c.1414C>G (p.Gln472Glu) SNV
Germline
Chr17:42785420 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_761294614

3 SubmittersRCV001123185RCV002556661RCV003727878

NM_003590.5(CUL3):c.1036T>C (p.Leu346=) SNV
Germline
Chr2:224506126 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2E
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_758182990

2 SubmittersRCV001137312RCV002556921

NM_003590.5(CUL3):c.-246C>T SNV
Germline
Chr2:224585255 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2E
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_928887003

2 SubmittersRCV001142162RCV003433029

NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg) SNV
Germline
Chr12:894624 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_1395162926

2 SubmittersRCV001197784RCV001521461

NM_213655.5(WNK1):c.2995C>G (p.Leu999Val) SNV
Germline
Chr12:868466 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_72649856

2 SubmittersRCV001208855RCV002436804

NM_213655.5(WNK1):c.3402T>G (p.Tyr1134Ter) SNV
Germline
Chr12:868873 Pathogenic Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Single Submitter
rs_1951905881

1 SubmittersRCV001228794

NM_213655.5(WNK1):c.2722G>T (p.Glu908Ter) SNV
Germline
Chr12:868193 Pathogenic Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Single Submitter
rs_1592096494

1 SubmittersRCV001239765

NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val) SNV
Germline
Chr12:885854 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_770568108

2 SubmittersRCV001244183RCV002568578

NM_213655.5(WNK1):c.3633+1G>T SNV
Germline
Chr12:869105 Likely pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Multiple Submitters
No Conflicts
rs_762015494

2 SubmittersRCV001225976RCV001333784RCV001336290

NM_003590.5(CUL3):c.641C>G (p.Ala214Gly) SNV
Germline
Chr2:224513537 Pathogenic Pseudohypoaldosteronism type 2E Criteria Provided
Single Submitter
rs_1692920727

1 SubmittersRCV001253061

NM_018979.4(WNK1):c.4788A>G (p.Gln1596=) SNV
Germline
Chr12:885592 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_371448826

2 SubmittersRCV001309742

NM_018979.4(WNK1):c.5325C>T (p.Ser1775=) SNV
Germline
Chr12:887265 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_373370309

3 SubmittersRCV001366159RCV003394006

NM_213655.5(WNK1):c.2436C>A (p.Tyr812Ter) SNV
Germline
Chr12:867907 Pathogenic Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Single Submitter
rs_2154071377

1 SubmittersRCV001381962

NM_018979.4(WNK1):c.397G>A (p.Val133Ile) SNV
Germline
Chr12:753962 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_753342253

2 SubmittersRCV001397924RCV002377600

NM_213655.5(WNK1):c.2201C>T (p.Pro734Leu) SNV
Germline
Chr12:865171 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
WNK1-related disorder
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_564717613

5 SubmittersRCV001415676RCV002432152RCV003965776RCV003156345RCV004526849

NM_018979.4(WNK1):c.5584-5A>G SNV
Germline
Chr12:896066 Conflicting classifications of pathogenicity Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Conflicting Classifications
rs_771801197

3 SubmittersRCV002368303RCV001417028

NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser) SNV
Germline
Chr5:137639881 Likely pathogenic Pseudohypoaldosteronism type 2D Criteria Provided
Single Submitter
rs_2149885426

1 SubmittersRCV001533191

NM_032387.5(WNK4):c.506C>T (p.Pro169Leu) SNV
Germline
Chr17:42781204 Pathogenic Pseudohypoaldosteronism type 2B No Assertion Criteria Provided
rs_2143987485

1 SubmittersRCV001849665

NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr) SNV
Germline
Chr12:865203 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_763686798

4 SubmittersRCV001967093RCV002425353RCV003395328

NM_018979.4(WNK1):c.6448+2T>C SNV
Germline
Chr12:897683 Likely pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter
rs_2154096075

1 SubmittersRCV002050443

NM_018979.4(WNK1):c.2119G>A (p.Val707Ile) SNV
Germline
Chr12:862250 Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_761380468

2 SubmittersRCV001902015RCV004039824

NM_213655.5(WNK1):c.2464A>G (p.Ile822Val) SNV
Germline
Chr12:867935 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_751787202

2 SubmittersRCV001912503RCV004041474

NM_213655.5(WNK1):c.3373C>T (p.Gln1125Ter) SNV
Germline
Chr12:868844 Pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter
rs_2154072180

1 SubmittersRCV001900804

NM_213655.5(WNK1):c.3535C>T (p.Gln1179Ter) SNV
Germline
Chr12:869006 Pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter
rs_1951918264

1 SubmittersRCV001994487

NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu) SNV
Germline
Chr12:884934 Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_574069625

2 SubmittersRCV002161609RCV002337385

NM_018979.4(WNK1):c.2266C>T (p.Gln756Ter) SNV
Germline
Chr12:878254 Pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter

1 SubmittersRCV003084515

NM_018979.4(WNK1):c.1400+1G>A SNV
Germline
Chr12:857250 Likely pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter

1 SubmittersRCV002880923

NM_018979.4(WNK1):c.2140-2A>G SNV
Germline
Chr12:871263 Likely pathogenic Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Criteria Provided
Single Submitter

1 SubmittersRCV002872169

NM_018979.4(WNK1):c.3845-2A>G SNV
Germline
Chr12:884647 Likely pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter

1 SubmittersRCV002853072

NM_213655.5(WNK1):c.3209T>A (p.Leu1070Ter) SNV
Germline
Chr12:868680 Pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter

1 SubmittersRCV003057806

NM_213655.5(WNK1):c.2140-1G>A SNV
Germline
Chr12:865109 Likely pathogenic Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Criteria Provided
Single Submitter

1 SubmittersRCV003809704