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.3301C>T (p.Gln1101Ter)	SNV Germline	Chr12:868772	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Multiple Submitters No Conflicts	CA117301	rs_111033590	4 SubmittersRCV000020433 RCV002321473 RCV005222668
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	5 SubmittersRCV000005475 RCV000480631 RCV000822434
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_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)	SNV Germline	Chr17:42796244	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA254228	rs_137853095	7 SubmittersRCV000008102 RCV000731744
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 SubmittersRCV000023258 RCV000128493
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 SubmittersRCV000023473 RCV000128507
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu)	SNV Germline	Chr5:137637386	Pathogenic	Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D	No Assertion Criteria Provided	CA129302	rs_199469641	2 SubmittersRCV000128521 RCV000023474
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)	SNV Germline	Chr5:137628305	Pathogenic	Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129303	rs_199469636	5 SubmittersRCV000128519 RCV000023475 RCV002513190
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)	SNV Germline	Chr5:137661950	Pathogenic	Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129304	rs_199469638	4 SubmittersRCV000128514 RCV000023476 RCV004772832
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)	SNV Germline	Chr5:137639874	Likely pathogenic	Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A	Criteria Provided Single Submitter	CA129306	rs_199469640	3 SubmittersRCV000023477 RCV000128515
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)	SNV Germline	Chr5:137628306	Likely pathogenic	Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D	Criteria Provided Multiple Submitters No Conflicts	CA129308	rs_199469635	4 SubmittersRCV000128518 RCV000023479
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn)	SNV Germline	Chr5:137637317	Pathogenic	Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A	Criteria Provided Single Submitter	CA129309	rs_199469632	3 SubmittersRCV000023480 RCV000128523
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	CA361045355	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_032387.5(WNK4):c.1323A>T (p.Glu441Asp)	SNV Germline	Chr17:42785329	Conflicting classifications of pathogenicity	Condition: not provided Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA216476	rs_387907562	3 SubmittersRCV000054782 RCV001127252
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 SubmittersRCV000023254 RCV000128486
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 SubmittersRCV000023257 RCV000128487
NM_003590.5(CUL3):c.1207-26A>G	SNV Germline	Chr2:224503848	Pathogenic	Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A Condition: not provided	Criteria Provided Single Submitter	CA269956	rs_199469650	3 SubmittersRCV000023252 RCV000128488 RCV004700408
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 SubmittersRCV000023253 RCV000128489
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 SubmittersRCV000023256 RCV000128490
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 SubmittersRCV000023255 RCV000128491
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 SubmittersRCV000128499 RCV001610387
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	Likely pathogenic	Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D	Criteria Provided Single Submitter	CA269977	rs_199469642	2 SubmittersRCV000128509 RCV005042201
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 Condition: not provided	Criteria Provided Single Submitter	CA269982	rs_199469627	2 SubmittersRCV000128513 RCV005089566
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.1295G>A (p.Ser432Asn)	SNV Germline	Chr5:137637320	Likely pathogenic	Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D	Criteria Provided Single Submitter	CA269986	rs_199469631	2 SubmittersRCV000128522 RCV002477257
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 SubmittersRCV000171203 RCV000705508 RCV002426814
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)	SNV Germline	Chr12:883483	Conflicting classifications of pathogenicity	Condition: not provided Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A not specified Inborn genetic diseases WNK1-related disorder	Criteria Provided Conflicting Classifications	CA240768	rs_72650720	7 SubmittersRCV000175092 RCV000313205 RCV001081613 RCV000999891 RCV002326955 RCV003955035
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)	SNV Germline	Chr12:896221	Conflicting classifications of pathogenicity	Condition: not provided Pseudohypoaldosteronism type 2A Hereditary sensory and autonomic neuropathy type 2 Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242472	rs_201995891	6 SubmittersRCV000176498 RCV000288019 RCV000345610 RCV001043119 RCV002362898
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg)	SNV Germline	Chr12:900651	Conflicting classifications of pathogenicity	not specified Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA202065	rs_72650768	6 SubmittersRCV000176681 RCV000872951 RCV002272159 RCV002381573
NM_213655.5(WNK1):c.2398C>T (p.Gln800Ter)	SNV Germline	Chr12:867869	Pathogenic/Likely pathogenic	Condition: not provided Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Multiple Submitters No Conflicts	CA10584438	rs_879254311	2 SubmittersRCV000236734 RCV002518469
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)	SNV Germline	Chr12:868076	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6382210	rs_377073379	5 SubmittersRCV000237034 RCV002429149 RCV001052902 RCV001334035
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 Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6383340	rs_151331381	8 SubmittersRCV000321750 RCV000382313 RCV001081595
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)	SNV Germline	Chr12:827183	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Condition: not provided Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6381881	rs_72648621	8 SubmittersRCV000278467 RCV000378664 RCV001081594
NM_003590.5(CUL3):c.*2272T>C	SNV Germline	Chr2:224471973	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Condition: not provided Pseudohypoaldosteronism type 2E	Criteria Provided Conflicting Classifications	CA10612582	rs_556914502	2 SubmittersRCV000380730 RCV002274986 RCV001141958
NM_003590.5(CUL3):c.*2130A>G	SNV Germline	Chr2:224472115	Conflicting classifications of pathogenicity	Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E Condition: not provided	Criteria Provided Conflicting Classifications	CA10612590	rs_555995940	2 SubmittersRCV000292532 RCV001143759 RCV002274987
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 SubmittersRCV000371517 RCV001143652
NM_003590.5(CUL3):c.*89A>T	SNV Germline	Chr2:224474156	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2E Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA10612934	rs_192166927	1 SubmittersRCV001140228 RCV000393904
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 SubmittersRCV000370481 RCV001143650
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 SubmittersRCV000371433 RCV001140225 RCV003311765
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 SubmittersRCV000356476 RCV001153999
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 SubmittersRCV000350076 RCV001154858
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 SubmittersRCV000293639 RCV001154113
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 SubmittersRCV000366474 RCV001156624 RCV003718222
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 SubmittersRCV000391622 RCV001153902
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 SubmittersRCV000303268 RCV001152838
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 SubmittersRCV000350908 RCV001154114
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 SubmittersRCV000279955 RCV001154117
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA3422390	rs_143617205	2 SubmittersRCV000278015 RCV001151153 RCV005090569
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 SubmittersRCV000367355 RCV001156727
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 SubmittersRCV000292776 RCV001154857
NM_017415.3(KLHL3):c.*39G>A	SNV Germline	Chr5:137622059	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2D Autosomal dominant pseudohypoaldosteronism type 1	Criteria Provided Conflicting Classifications	CA3422096	rs_762735618	1 SubmittersRCV001154119 RCV000399262
NM_018979.4(WNK1):c.2468A>G (p.His823Arg)	SNV Germline	Chr12:879667	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided WNK1-related disorder	Criteria Provided Conflicting Classifications	CA6382487	rs_56015776	4 SubmittersRCV000384816 RCV000532276 RCV000994765 RCV004748722
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	4 SubmittersRCV000281301 RCV002338889 RCV001240672
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)	SNV Germline	Chr12:908664	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	CA6383550	rs_146042595	6 SubmittersRCV000291824 RCV000542452 RCV001546004 RCV002411199
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)	SNV Germline	Chr12:861226	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	CA6382040	rs_146450828	5 SubmittersRCV000322058 RCV000647879 RCV002411203 RCV001508679
NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg)	SNV Germline	Chr12:879823	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2A Hereditary sensory and autonomic neuropathy type 2 Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6382525	rs_529032048	2 SubmittersRCV000338635 RCV000395044 RCV005003632
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 SubmittersRCV000325167 RCV002520845
NM_032387.5(WNK4):c.679G>T (p.Gly227Trp)	SNV Germline	Chr17:42782818	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8583738	rs_140897013	4 SubmittersRCV000341945 RCV002522968 RCV004965410
NM_032387.5(WNK4):c.717G>T (p.Ser239=)	SNV Germline	Chr17:42782856	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA8583747	rs_765644398	3 SubmittersRCV000404592 RCV005016711 RCV005090492
NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg)	SNV Germline	Chr17:42795258	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2A Inborn genetic diseases Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA8584448	rs_200187290	3 SubmittersRCV000362014 RCV002521110 RCV005016712
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)	SNV Germline	Chr12:754143	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	CA6381812	rs_72647372	6 SubmittersRCV000286715 RCV000558626 RCV001812801 RCV002356420
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 Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA6382530	rs_142528714	3 SubmittersRCV000302917 RCV000359952 RCV000647862 RCV003391116
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)	SNV Germline	Chr12:881768	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6382686	rs_201379287	7 SubmittersRCV000383285 RCV000647831 RCV001535659 RCV002374531 RCV003323505
NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg)	SNV Germline	Chr12:886062	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	CA6383097	rs_752078094	5 SubmittersRCV000687160 RCV000383349 RCV001770248 RCV002356421
NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys)	SNV Germline	Chr12:896320	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA6383290	rs_117016551	3 SubmittersRCV000315167 RCV000875539 RCV001812792
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 SubmittersRCV000355967 RCV001487120
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 SubmittersRCV000333359 RCV001859861
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)	SNV Germline	Chr12:861247	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided Inborn genetic diseases WNK1-related disorder not specified	Criteria Provided Conflicting Classifications	CA6382044	rs_149388376	7 SubmittersRCV000286984 RCV000524948 RCV001812802 RCV002411204 RCV003967906 RCV005418071
NM_018979.4(WNK1):c.4384G>C (p.Gly1462Arg)	SNV Germline	Chr12:885188	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6382967	rs_368621387	2 SubmittersRCV000358041 RCV001350772
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6383295	rs_201766777	4 SubmittersRCV000367530 RCV000647841 RCV002365355 RCV004703609
NM_032387.5(WNK4):c.1574G>A (p.Arg525His)	SNV Germline	Chr17:42787375	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8584029	rs_200182836	3 SubmittersRCV000314959 RCV005512724
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 SubmittersRCV000378074 RCV001840486
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	4 SubmittersRCV000402811 RCV002522972 RCV003243078
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 SubmittersRCV000488140 RCV001085123 RCV001333783 RCV002446950 RCV003902736
NM_018979.4(WNK1):c.2401A>G (p.Ile801Val)	SNV Germline	Chr12:879600	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C not specified	Criteria Provided Conflicting Classifications	CA6382475	rs_139449198	2 SubmittersRCV000808107 RCV000508056
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 SubmittersRCV000519535 RCV000819734 RCV002456022
NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile)	SNV Germline	Chr12:885993	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6383085	rs_375562377	4 SubmittersRCV000541660 RCV001109296 RCV002358560 RCV003480680
NM_018979.4(WNK1):c.46C>T (p.Leu16=)	SNV Germline	Chr12:753611	Conflicting classifications of pathogenicity	Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA478082934	rs_1443431827	2 SubmittersRCV000596187 RCV003767383
NM_003590.5(CUL3):c.739C>T (p.Arg247Ter)	SNV Germline	Chr2:224511498	Pathogenic	Condition: not provided Pseudohypoaldosteronism type 2E Neurodevelopmental disorder with or without autism or seizures	Criteria Provided Multiple Submitters No Conflicts	CA350830494	rs_201496024	2 SubmittersRCV000627335 RCV004796257
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)	SNV Germline	Chr12:885948	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A WNK1-related disorder	Criteria Provided Conflicting Classifications	CA6383073	rs_756614581	5 SubmittersRCV000647854 RCV002358851 RCV005357862 RCV003420135
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)	SNV Germline	Chr12:896207	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6383270	rs_200979623	4 SubmittersRCV000647832 RCV002261155 RCV002360614
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 SubmittersRCV000647838 RCV002422364 RCV003994064
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	CA6381725	rs_775564750	3 SubmittersRCV000685026 RCV001111895 RCV002386157
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 not specified	Criteria Provided Conflicting Classifications	CA6381854	rs_200234585	6 SubmittersRCV000691306 RCV002442441 RCV003480773 RCV005240477
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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6383293	rs_72650764	6 SubmittersRCV000692654 RCV001108934 RCV002360748 RCV003482299
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	CA6383037	rs_781667314	3 SubmittersRCV000706095 RCV004026711
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)	SNV Germline	Chr12:878254	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6382426	rs_768622577	3 SubmittersRCV000703964 RCV001111333 RCV002343550
NM_018979.4(WNK1):c.7008A>G (p.Gln2336=)	SNV Germline	Chr12:908651	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6383545	rs_369782445	2 SubmittersRCV000695459 RCV001114899
NM_018979.4(WNK1):c.2187G>A (p.Gly729=)	SNV Germline	Chr12:871312	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6382405	rs_759764709	2 SubmittersRCV000714605 RCV005223139
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 Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6383062	rs_771546256	2 SubmittersRCV000714786 RCV000714785 RCV002067010
NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter)	SNV Germline	Chr12:868391	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Multiple Submitters No Conflicts	CA383339900	rs_1478989689	4 SubmittersRCV000788052 RCV001869016
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	CA6382196	rs_200794710	5 SubmittersRCV000814722 RCV001731942 RCV003353051
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	CA383339292	rs_1592095957	1 SubmittersRCV000815973
NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)	SNV Germline	Chr12:882032	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Single Submitter	CA231477837	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	CA6382898	rs_375565845	3 SubmittersRCV000798637 RCV002334504
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	CA6382924	rs_758763241	3 SubmittersRCV000803133 RCV002336619
NM_018979.4(WNK1):c.4487C>G (p.Thr1496Ser)	SNV Germline	Chr12:885291	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6382984	rs_763829194	2 SubmittersRCV000808403
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 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6383269	rs_759895083	6 SubmittersRCV000807813 RCV002363078 RCV005432436 RCV003392615
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	CA6383277	rs_184764148	2 SubmittersRCV000817175 RCV002363138
NM_018979.4(WNK1):c.618G>A (p.Glu206=)	SNV Germline	Chr12:754183	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C not specified	Criteria Provided Conflicting Classifications	CA6381823	rs_146461512	3 SubmittersRCV000878749 RCV005236383
NM_018979.4(WNK1):c.4104A>G (p.Thr1368=)	SNV Germline	Chr12:884908	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C not specified	Criteria Provided Conflicting Classifications	CA6382918	rs_142787842	3 SubmittersRCV000873761 RCV005408036
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	CA6383260	rs_72650763	5 SubmittersRCV000875533 RCV002354694 RCV002462210 RCV003948234
NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys)	SNV Germline	Chr12:879658	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided	Criteria Provided Conflicting Classifications	CA6382485	rs_74056058	2 SubmittersRCV000951805 RCV001811549
NM_018979.4(WNK1):c.3102A>G (p.Ala1034=)	SNV Germline	Chr12:880990	Conflicting classifications of pathogenicity	Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6382646	rs_747140718	2 SubmittersRCV000927693 RCV005004468
NM_018979.4(WNK1):c.264C>T (p.Ser88=)	SNV Germline	Chr12:753829	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA6381748	rs_773586473	3 SubmittersRCV001112360 RCV001398871 RCV005231976
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	CA8584227	rs_61755607	3 SubmittersRCV000938145 RCV002488018 RCV003489972
NM_018979.4(WNK1):c.459C>G (p.Pro153=)	SNV Germline	Chr12:754024	Conflicting classifications of pathogenicity	Condition: not provided Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA478082708	rs_1446171264	2 SubmittersRCV000994761 RCV002067606
NM_018979.4(WNK1):c.3492G>A (p.Val1164=)	SNV Germline	Chr12:883397	Conflicting classifications of pathogenicity	Condition: not provided Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6382793	rs_778613425	2 SubmittersRCV000994766 RCV002068719
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)	SNV Germline	Chr12:868410	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6382268	rs_372091476	5 SubmittersRCV001552917 RCV001001222 RCV001423306 RCV002434393
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	CA6381728	rs_754447060	2 SubmittersRCV001067970
NM_018979.4(WNK1):c.473G>C (p.Ser158Thr)	SNV Germline	Chr12:754038	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231464226	rs_920732487	3 SubmittersRCV001051709 RCV001113717 RCV002339260
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6382146	rs_550716144	3 SubmittersRCV001052255 RCV002445276 RCV004693522
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	CA6382302	rs_187534119	4 SubmittersRCV001038247 RCV001566097 RCV002320240
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	CA6383131	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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6383169	rs_557930357	4 SubmittersRCV001071156 RCV004693585 RCV005418983
NM_018979.4(WNK1):c.126G>A (p.Ala42=)	SNV Germline	Chr12:753691	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA231463721	rs_935728437	2 SubmittersRCV001111894 RCV001402878
NM_018979.4(WNK1):c.198T>C (p.Arg66=)	SNV Germline	Chr12:753763	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6381739	rs_777517901	2 SubmittersRCV001111897 RCV002555081
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	CA6381740	rs_368280492	3 SubmittersRCV001112358 RCV001213082 RCV002418582
NM_018979.4(WNK1):c.2710A>G (p.Thr904Ala)	SNV Germline	Chr12:879909	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6382548	rs_752492830	2 SubmittersRCV001114720 RCV005012568
NM_018979.4(WNK1):c.3468C>G (p.Pro1156=)	SNV Germline	Chr12:883038	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6382765	rs_753078534	2 SubmittersRCV001109194 RCV002556136
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	CA6382827	rs_772922134	2 SubmittersRCV001111530 RCV002327389
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	CA478084306	rs_1953580574	2 SubmittersRCV001109293 RCV003769115
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	CA6383224	rs_747791200	3 SubmittersRCV001114567 RCV002069847 RCV003405322
NM_018979.4(WNK1):c.6497C>T (p.Thr2166Ile)	SNV Germline	Chr12:900524	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6383419	rs_762925275	2 SubmittersRCV001114898 RCV001856512
NM_032387.5(WNK4):c.246C>A (p.Asp82Glu)	SNV Germline	Chr17:42780944	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA8583651	rs_373427674	2 SubmittersRCV001124180
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	CA8583677	rs_773898452	2 SubmittersRCV001126848 RCV002556765
NM_032387.5(WNK4):c.716C>G (p.Ser239Trp)	SNV Germline	Chr17:42782855	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8583745	rs_199775692	4 SubmittersRCV001126852 RCV001355913 RCV004678966
NM_032387.5(WNK4):c.1405C>T (p.Arg469Trp)	SNV Germline	Chr17:42785411	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8583979	rs_370770635	2 SubmittersRCV001127254 RCV004963137
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	CA8583982	rs_761294614	3 SubmittersRCV001123185 RCV002556661 RCV003727878
NM_032387.5(WNK4):c.3032C>T (p.Pro1011Leu)	SNV Germline	Chr17:42795634	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8584514	rs_61755628	2 SubmittersRCV001125383 RCV005286315
NM_003590.5(CUL3):c.1036T>C (p.Leu346=)	SNV Germline	Chr2:224506126	Conflicting classifications of pathogenicity	Condition: not provided Pseudohypoaldosteronism type 2E	Criteria Provided Conflicting Classifications	CA2140047	rs_758182990	2 SubmittersRCV002556921 RCV001137312
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	CA66591720	rs_928887003	2 SubmittersRCV001142162 RCV003433029
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	CA383334332	rs_1395162926	2 SubmittersRCV001197784 RCV001521461
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)	SNV Germline	Chr12:868466	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6382277	rs_72649856	2 SubmittersRCV001208855 RCV002436804
NM_213655.5(WNK1):c.3402T>G (p.Tyr1134Ter)	SNV Germline	Chr12:868873	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Single Submitter	CA383342027	rs_1951905881	1 SubmittersRCV001228794
NM_213655.5(WNK1):c.2722G>T (p.Glu908Ter)	SNV Germline	Chr12:868193	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Single Submitter	CA383339483	rs_1592096494	1 SubmittersRCV001239765
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)	SNV Germline	Chr12:885854	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6383059	rs_770568108	2 SubmittersRCV001244183 RCV002568578
NM_213655.5(WNK1):c.3633+1G>T	SNV Germline	Chr12:869105	Likely pathogenic	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Multiple Submitters No Conflicts	CA6382381	rs_762015494	2 SubmittersRCV001225976 RCV001333784 RCV001336290
NM_003590.5(CUL3):c.641C>G (p.Ala214Gly)	SNV Germline	Chr2:224513537	Pathogenic	Pseudohypoaldosteronism type 2E	Criteria Provided Single Submitter	CA350831110	rs_1692920727	1 SubmittersRCV001253061
NM_032387.5(WNK4):c.1510C>T (p.Gln504Ter)	SNV Germline	Chr17:42787311	Conflicting classifications of pathogenicity	Condition: not provided not specified Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA8584009	rs_200593980	3 SubmittersRCV003085882 RCV004587427 RCV005019658
NM_018979.4(WNK1):c.4788A>G (p.Gln1596=)	SNV Germline	Chr12:885592	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Conflicting Classifications	CA6383031	rs_371448826	2 SubmittersRCV001309742
NM_018979.4(WNK1):c.5086G>A (p.Ala1696Thr)	SNV Germline	Chr12:885890	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6383064	rs_760615496	2 SubmittersRCV001345582
NM_018979.4(WNK1):c.5325C>T (p.Ser1775=)	SNV Germline	Chr12:887265	Conflicting classifications of pathogenicity	Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6383134	rs_373370309	3 SubmittersRCV003394006 RCV001366159
NM_213655.5(WNK1):c.2436C>A (p.Tyr812Ter)	SNV Germline	Chr12:867907	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Single Submitter	CA383338740	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	CA6381775	rs_753342253	2 SubmittersRCV001397924 RCV002377600
NM_213655.5(WNK1):c.2201C>T (p.Pro734Leu)	SNV Germline	Chr12:865171	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases WNK1-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6382132	rs_564717613	5 SubmittersRCV001415676 RCV002432152 RCV003965776 RCV004526849 RCV003156345
NM_018979.4(WNK1):c.3292A>G (p.Thr1098Ala)	SNV Germline	Chr12:881993	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA6382732	rs_138216561	2 SubmittersRCV001392609 RCV004590372
NM_018979.4(WNK1):c.5584-5A>G	SNV Germline	Chr12:896066	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6383251	rs_771801197	3 SubmittersRCV001417028 RCV002368303
NM_018979.4(WNK1):c.6958A>G (p.Met2320Val)	SNV Germline	Chr12:908601	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A not specified	Criteria Provided Conflicting Classifications	CA6383537	rs_144574284	2 SubmittersRCV001401427 RCV004690101
NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser)	SNV Germline	Chr5:137639881	Likely pathogenic	Pseudohypoaldosteronism type 2D	Criteria Provided Single Submitter	CA361048672	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	CA399645199	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	CA231495656	rs_763686798	4 SubmittersRCV001967093 RCV002425353 RCV003395328
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	CA383337451	rs_2154096075	1 SubmittersRCV002050443
NM_018979.4(WNK1):c.5463G>A (p.Ala1821=)	SNV Germline	Chr12:890467	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6383197	rs_770977819	2 SubmittersRCV002036974
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	CA383336730	rs_761380468	2 SubmittersRCV001902015 RCV004039824
NM_213655.5(WNK1):c.2464A>G (p.Ile822Val)	SNV Germline	Chr12:867935	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6382179	rs_751787202	3 SubmittersRCV001912503 RCV004041474
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	CA383341960	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	CA383342306	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	CA6382921	rs_574069625	2 SubmittersRCV002161609 RCV002337385
NM_003590.5(CUL3):c.563A>G (p.Gln188Arg)	SNV Germline	Chr2:224513615	Conflicting classifications of pathogenicity	Neurodevelopmental disorder with or without autism or seizures Condition: not provided Pseudohypoaldosteronism type 2E Neurodevelopmental disorder with or without autism or seizures	Criteria Provided Conflicting Classifications	CA66535843	rs_991634550	3 SubmittersRCV002227684 RCV003089222 RCV002505889
NM_018979.4(WNK1):c.5448+1G>T	SNV Germline	Chr12:889224	Conflicting classifications of pathogenicity	Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA383333348	rs_1953966878	3 SubmittersRCV002353856 RCV005008555
NM_018979.4(WNK1):c.5491A>G (p.Thr1831Ala)	SNV Germline	Chr12:890495	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA6383204	rs_763932979	3 SubmittersRCV002366636 RCV003395463 RCV005227648
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	CA383325652	rs_768622577	1 SubmittersRCV003084515
NM_003590.5(CUL3):c.137G>A (p.Arg46His)	SNV Germline	Chr2:224557786	Conflicting classifications of pathogenicity	Condition: not provided Neurodevelopmental disorder with or without autism or seizures Pseudohypoaldosteronism type 2E not specified	Criteria Provided Conflicting Classifications	CA2140260	rs_190453078	3 SubmittersRCV002598952 RCV005028243 RCV005434004
NM_213655.5(WNK1):c.2745C>G (p.Asp915Glu)	SNV Germline	Chr12:868216	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A not specified	Criteria Provided Conflicting Classifications	CA6382231	rs_367706591	2 SubmittersRCV003111900 RCV004690387
NM_018979.4(WNK1):c.1400+1G>A	SNV Germline	Chr12:857250	Likely pathogenic	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Single Submitter	CA383333700	rs_2548597368	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	CA383342738	rs_2548836529	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	CA383330019	rs_2549037336	1 SubmittersRCV002853072
NM_032387.5(WNK4):c.2893C>T (p.Leu965Phe)	SNV Germline	Chr17:42795314	Conflicting classifications of pathogenicity	Condition: not provided WNK4-related disorder Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA8584460	rs_200640984	3 SubmittersRCV002909891 RCV004753591 RCV005399020
NM_032387.5(WNK4):c.374C>G (p.Pro125Arg)	SNV Germline	Chr17:42781072	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA8583673	rs_369221665	4 SubmittersRCV002929213 RCV005288854 RCV005059093 RCV005019502
NM_213655.5(WNK1):c.3209T>A (p.Leu1070Ter)	SNV Germline	Chr12:868680	Pathogenic	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A	Criteria Provided Single Submitter	CA383341537	rs_2548798737	1 SubmittersRCV003057806
NM_018979.4(WNK1):c.1905T>A (p.Asp635Glu)	SNV Germline	Chr12:861297	Likely pathogenic	Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Multiple Submitters No Conflicts	CA383335766	rs_770961582	2 SubmittersRCV003231657 RCV005216025
NM_032387.5(WNK4):c.1459G>A (p.Glu487Lys)	SNV Germline	Chr17:42785465	Conflicting classifications of pathogenicity	Inborn genetic diseases Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA8583991	rs_752469952	2 SubmittersRCV003242114 RCV005012845
NM_018979.4(WNK1):c.3799C>T (p.Arg1267Ter)	SNV Germline	Chr12:884198	Conflicting classifications of pathogenicity	Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A WNK1-related disorder	Criteria Provided Conflicting Classifications	CA383329915	rs_1592168824	2 SubmittersRCV005216080 RCV003391259
NM_032387.5(WNK4):c.2723C>T (p.Pro908Leu)	SNV Germline	Chr17:42795144	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications	CA8584427	rs_758058076	3 SubmittersRCV003544789 RCV004963685 RCV005022010
NM_018979.4(WNK1):c.3112-6T>G	SNV Germline	Chr12:881686	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications	CA602647298	rs_1409690582	2 SubmittersRCV003786223
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	CA383337455	rs_1289250994	1 SubmittersRCV003809704
NM_003590.5(CUL3):c.1312A>G (p.Arg438Gly)	SNV Germline	Chr2:224503717	Pathogenic	Pseudohypoaldosteronism type 2E	Criteria Provided Single Submitter		rs_2469974393	1 SubmittersRCV004594728
NM_213655.5(WNK1):c.2560C>T (p.Gln854Ter)	SNV Germline	Chr12:868031	Likely pathogenic	Pseudohypoaldosteronism type 2C	No Assertion Criteria Provided			1 SubmittersRCV004767625
NM_032387.5(WNK4):c.2212C>T (p.Arg738Trp)	SNV Germline	Chr17:42793646	Conflicting classifications of pathogenicity	Inborn genetic diseases Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications			2 SubmittersRCV004678542 RCV005017205
NM_032387.5(WNK4):c.623G>A (p.Arg208Gln)	SNV Germline	Chr17:42782762	Conflicting classifications of pathogenicity	Inborn genetic diseases Pseudohypoaldosteronism type 2B	Criteria Provided Conflicting Classifications			2 SubmittersRCV004967481 RCV005017323
NM_018979.4(WNK1):c.2832+1G>C	SNV Germline	Chr12:880032	Likely pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Single Submitter			1 SubmittersRCV005005492
NM_018979.4(WNK1):c.4719A>G (p.Pro1573=)	SNV Germline	Chr12:885523	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Conflicting Classifications			2 SubmittersRCV005013299
NM_003590.5(CUL3):c.427G>T (p.Gly143Ter)	SNV Germline	Chr2:224514724	Likely pathogenic	Pseudohypoaldosteronism type 2E Neurodevelopmental disorder with or without autism or seizures	Criteria Provided Single Submitter			1 SubmittersRCV005020658
NM_017415.3(KLHL3):c.1291C>T (p.Arg431Trp)	SNV Germline	Chr5:137637324	Likely pathogenic	Pseudohypoaldosteronism type 2D	Criteria Provided Single Submitter			1 SubmittersRCV005033285
NM_017415.3(KLHL3):c.234G>A (p.Met78Ile)	SNV Germline	Chr5:137709757	Likely pathogenic	Pseudohypoaldosteronism type 2D	Criteria Provided Single Submitter			1 SubmittersRCV005043147
NM_018979.4(WNK1):c.6376C>T (p.Arg2126Ter)	SNV Germline	Chr12:897609	Pathogenic	Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C	Criteria Provided Single Submitter			1 SubmittersRCV005219366

NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter)

SNV
Germline

Chr12:868772

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA117301

rs_111033590

4 SubmittersRCV000020433 RCV002321473 RCV005222668

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

5 SubmittersRCV000005475 RCV000480631 RCV000822434

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_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)

SNV
Germline

Chr17:42796244

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA254228

rs_137853095

7 SubmittersRCV000008102 RCV000731744

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 SubmittersRCV000023258 RCV000128493

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 SubmittersRCV000023473 RCV000128507

NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu)

SNV
Germline

Chr5:137637386

Pathogenic

Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D

No Assertion Criteria Provided

CA129302

rs_199469641

2 SubmittersRCV000128521 RCV000023474

NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)

SNV
Germline

Chr5:137628305

Pathogenic

Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129303

rs_199469636

5 SubmittersRCV000128519 RCV000023475 RCV002513190

NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)

SNV
Germline

Chr5:137661950

Pathogenic

Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129304

rs_199469638

4 SubmittersRCV000128514 RCV000023476 RCV004772832

NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)

SNV
Germline

Chr5:137639874

Likely pathogenic

Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A

Criteria Provided
Single Submitter

CA129306

rs_199469640

3 SubmittersRCV000023477 RCV000128515

NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)

SNV
Germline

Chr5:137628306

Likely pathogenic

Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA129308

rs_199469635

4 SubmittersRCV000128518 RCV000023479

NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn)

SNV
Germline

Chr5:137637317

Pathogenic

Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2A

Criteria Provided
Single Submitter

CA129309

rs_199469632

3 SubmittersRCV000023480 RCV000128523

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

CA361045355

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_032387.5(WNK4):c.1323A>T (p.Glu441Asp)

SNV
Germline

Chr17:42785329

Conflicting classifications of pathogenicity

Condition: not provided
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA216476

rs_387907562

3 SubmittersRCV000054782 RCV001127252

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 SubmittersRCV000023254 RCV000128486

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 SubmittersRCV000023257 RCV000128487

NM_003590.5(CUL3):c.1207-26A>G

SNV
Germline

Chr2:224503848

Pathogenic

Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type 2A
Condition: not provided

Criteria Provided
Single Submitter

CA269956

rs_199469650

3 SubmittersRCV000023252 RCV000128488 RCV004700408

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 SubmittersRCV000023253 RCV000128489

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 SubmittersRCV000023256 RCV000128490

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 SubmittersRCV000023255 RCV000128491

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 SubmittersRCV000128499 RCV001610387

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

Likely pathogenic

Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D

Criteria Provided
Single Submitter

CA269977

rs_199469642

2 SubmittersRCV000128509 RCV005042201

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
Condition: not provided

Criteria Provided
Single Submitter

CA269982

rs_199469627

2 SubmittersRCV000128513 RCV005089566

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.1295G>A (p.Ser432Asn)

SNV
Germline

Chr5:137637320

Likely pathogenic

Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2D

Criteria Provided
Single Submitter

CA269986

rs_199469631

2 SubmittersRCV000128522 RCV002477257

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 SubmittersRCV000171203 RCV000705508 RCV002426814

NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)

SNV
Germline

Chr12:883483

Conflicting classifications of pathogenicity

Condition: not provided
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
not specified
Inborn genetic diseases
WNK1-related disorder

Criteria Provided
Conflicting Classifications

CA240768

rs_72650720

7 SubmittersRCV000175092 RCV000313205 RCV001081613 RCV000999891 RCV002326955 RCV003955035

NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)

SNV
Germline

Chr12:896221

Conflicting classifications of pathogenicity

Condition: not provided
Pseudohypoaldosteronism type 2A
Hereditary sensory and autonomic neuropathy type 2
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242472

rs_201995891

6 SubmittersRCV000176498 RCV000288019 RCV000345610 RCV001043119 RCV002362898

NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg)

SNV
Germline

Chr12:900651

Conflicting classifications of pathogenicity

not specified
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA202065

rs_72650768

6 SubmittersRCV000176681 RCV000872951 RCV002272159 RCV002381573

NM_213655.5(WNK1):c.2398C>T (p.Gln800Ter)

SNV
Germline

Chr12:867869

Pathogenic/Likely pathogenic

Condition: not provided
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10584438

rs_879254311

2 SubmittersRCV000236734 RCV002518469

NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)

SNV
Germline

Chr12:868076

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6382210

rs_377073379

5 SubmittersRCV000237034 RCV002429149 RCV001052902 RCV001334035

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
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6383340

rs_151331381

8 SubmittersRCV000321750 RCV000382313 RCV001081595

NM_018979.4(WNK1):c.1074C>T (p.Thr358=)

SNV
Germline

Chr12:827183

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Condition: not provided
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6381881

rs_72648621

8 SubmittersRCV000278467 RCV000378664 RCV001081594

NM_003590.5(CUL3):c.*2272T>C

SNV
Germline

Chr2:224471973

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided
Pseudohypoaldosteronism type 2E

Criteria Provided
Conflicting Classifications

CA10612582

rs_556914502

2 SubmittersRCV000380730 RCV002274986 RCV001141958

NM_003590.5(CUL3):c.*2130A>G

SNV
Germline

Chr2:224472115

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10612590

rs_555995940

2 SubmittersRCV000292532 RCV001143759 RCV002274987

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 SubmittersRCV000371517 RCV001143652

NM_003590.5(CUL3):c.*89A>T

SNV
Germline

Chr2:224474156

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2E
Autosomal dominant pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA10612934

rs_192166927

1 SubmittersRCV001140228 RCV000393904

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 SubmittersRCV000370481 RCV001143650

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 SubmittersRCV000371433 RCV001140225 RCV003311765

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 SubmittersRCV000356476 RCV001153999

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 SubmittersRCV000350076 RCV001154858

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 SubmittersRCV000293639 RCV001154113

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 SubmittersRCV000366474 RCV001156624 RCV003718222

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 SubmittersRCV000391622 RCV001153902

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 SubmittersRCV000303268 RCV001152838

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 SubmittersRCV000350908 RCV001154114

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 SubmittersRCV000279955 RCV001154117

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3422390

rs_143617205

2 SubmittersRCV000278015 RCV001151153 RCV005090569

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 SubmittersRCV000367355 RCV001156727

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 SubmittersRCV000292776 RCV001154857

NM_017415.3(KLHL3):c.*39G>A

SNV
Germline

Chr5:137622059

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2D
Autosomal dominant pseudohypoaldosteronism type 1

Criteria Provided
Conflicting Classifications

CA3422096

rs_762735618

1 SubmittersRCV001154119 RCV000399262

NM_018979.4(WNK1):c.2468A>G (p.His823Arg)

SNV
Germline

Chr12:879667

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
WNK1-related disorder

Criteria Provided
Conflicting Classifications

CA6382487

rs_56015776

4 SubmittersRCV000384816 RCV000532276 RCV000994765 RCV004748722

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

4 SubmittersRCV000281301 RCV002338889 RCV001240672

NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)

SNV
Germline

Chr12:908664

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

CA6383550

rs_146042595

6 SubmittersRCV000291824 RCV000542452 RCV001546004 RCV002411199

NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)

SNV
Germline

Chr12:861226

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

CA6382040

rs_146450828

5 SubmittersRCV000322058 RCV000647879 RCV002411203 RCV001508679

NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg)

SNV
Germline

Chr12:879823

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2A
Hereditary sensory and autonomic neuropathy type 2
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6382525

rs_529032048

2 SubmittersRCV000338635 RCV000395044 RCV005003632

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 SubmittersRCV000325167 RCV002520845

NM_032387.5(WNK4):c.679G>T (p.Gly227Trp)

SNV
Germline

Chr17:42782818

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8583738

rs_140897013

4 SubmittersRCV000341945 RCV002522968 RCV004965410

NM_032387.5(WNK4):c.717G>T (p.Ser239=)

SNV
Germline

Chr17:42782856

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8583747

rs_765644398

3 SubmittersRCV000404592 RCV005016711 RCV005090492

NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg)

SNV
Germline

Chr17:42795258

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2A
Inborn genetic diseases
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA8584448

rs_200187290

3 SubmittersRCV000362014 RCV002521110 RCV005016712

NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)

SNV
Germline

Chr12:754143

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

CA6381812

rs_72647372

6 SubmittersRCV000286715 RCV000558626 RCV001812801 RCV002356420

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
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6382530

rs_142528714

3 SubmittersRCV000302917 RCV000359952 RCV000647862 RCV003391116

NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)

SNV
Germline

Chr12:881768

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6382686

rs_201379287

7 SubmittersRCV000383285 RCV000647831 RCV001535659 RCV002374531 RCV003323505

NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg)

SNV
Germline

Chr12:886062

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

CA6383097

rs_752078094

5 SubmittersRCV000687160 RCV000383349 RCV001770248 RCV002356421

NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys)

SNV
Germline

Chr12:896320

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6383290

rs_117016551

3 SubmittersRCV000315167 RCV000875539 RCV001812792

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 SubmittersRCV000355967 RCV001487120

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 SubmittersRCV000333359 RCV001859861

NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)

SNV
Germline

Chr12:861247

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
Inborn genetic diseases
WNK1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6382044

rs_149388376

7 SubmittersRCV000286984 RCV000524948 RCV001812802 RCV002411204 RCV003967906 RCV005418071

NM_018979.4(WNK1):c.4384G>C (p.Gly1462Arg)

SNV
Germline

Chr12:885188

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6382967

rs_368621387

2 SubmittersRCV000358041 RCV001350772

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6383295

rs_201766777

4 SubmittersRCV000367530 RCV000647841 RCV002365355 RCV004703609

NM_032387.5(WNK4):c.1574G>A (p.Arg525His)

SNV
Germline

Chr17:42787375

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8584029

rs_200182836

3 SubmittersRCV000314959 RCV005512724

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 SubmittersRCV000378074 RCV001840486

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

4 SubmittersRCV000402811 RCV002522972 RCV003243078

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 SubmittersRCV000488140 RCV001085123 RCV001333783 RCV002446950 RCV003902736

NM_018979.4(WNK1):c.2401A>G (p.Ile801Val)

SNV
Germline

Chr12:879600

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
not specified

Criteria Provided
Conflicting Classifications

CA6382475

rs_139449198

2 SubmittersRCV000808107 RCV000508056

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 SubmittersRCV000519535 RCV000819734 RCV002456022

NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile)

SNV
Germline

Chr12:885993

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6383085

rs_375562377

4 SubmittersRCV000541660 RCV001109296 RCV002358560 RCV003480680

NM_018979.4(WNK1):c.46C>T (p.Leu16=)

SNV
Germline

Chr12:753611

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA478082934

rs_1443431827

2 SubmittersRCV000596187 RCV003767383

NM_003590.5(CUL3):c.739C>T (p.Arg247Ter)

SNV
Germline

Chr2:224511498

Pathogenic

Condition: not provided
Pseudohypoaldosteronism type 2E
Neurodevelopmental disorder with or without autism or seizures

Criteria Provided
Multiple Submitters
No Conflicts

CA350830494

rs_201496024

2 SubmittersRCV000627335 RCV004796257

NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)

SNV
Germline

Chr12:885948

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
WNK1-related disorder

Criteria Provided
Conflicting Classifications

CA6383073

rs_756614581

5 SubmittersRCV000647854 RCV002358851 RCV005357862 RCV003420135

NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)

SNV
Germline

Chr12:896207

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6383270

rs_200979623

4 SubmittersRCV000647832 RCV002261155 RCV002360614

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 SubmittersRCV000647838 RCV002422364 RCV003994064

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

CA6381725

rs_775564750

3 SubmittersRCV000685026 RCV001111895 RCV002386157

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
not specified

Criteria Provided
Conflicting Classifications

CA6381854

rs_200234585

6 SubmittersRCV000691306 RCV002442441 RCV003480773 RCV005240477

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6383293

rs_72650764

6 SubmittersRCV000692654 RCV001108934 RCV002360748 RCV003482299

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

CA6383037

rs_781667314

3 SubmittersRCV000706095 RCV004026711

NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)

SNV
Germline

Chr12:878254

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6382426

rs_768622577

3 SubmittersRCV000703964 RCV001111333 RCV002343550

NM_018979.4(WNK1):c.7008A>G (p.Gln2336=)

SNV
Germline

Chr12:908651

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6383545

rs_369782445

2 SubmittersRCV000695459 RCV001114899

NM_018979.4(WNK1):c.2187G>A (p.Gly729=)

SNV
Germline

Chr12:871312

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6382405

rs_759764709

2 SubmittersRCV000714605 RCV005223139

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
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6383062

rs_771546256

2 SubmittersRCV000714786 RCV000714785 RCV002067010

NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter)

SNV
Germline

Chr12:868391

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA383339900

rs_1478989689

4 SubmittersRCV000788052 RCV001869016

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

CA6382196

rs_200794710

5 SubmittersRCV000814722 RCV001731942 RCV003353051

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

CA383339292

rs_1592095957

1 SubmittersRCV000815973

NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)

SNV
Germline

Chr12:882032

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Single Submitter

CA231477837

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

CA6382898

rs_375565845

3 SubmittersRCV000798637 RCV002334504

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

CA6382924

rs_758763241

3 SubmittersRCV000803133 RCV002336619

NM_018979.4(WNK1):c.4487C>G (p.Thr1496Ser)

SNV
Germline

Chr12:885291

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6382984

rs_763829194

2 SubmittersRCV000808403

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6383269

rs_759895083

6 SubmittersRCV000807813 RCV002363078 RCV005432436 RCV003392615

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

CA6383277

rs_184764148

2 SubmittersRCV000817175 RCV002363138

NM_018979.4(WNK1):c.618G>A (p.Glu206=)

SNV
Germline

Chr12:754183

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
not specified

Criteria Provided
Conflicting Classifications

CA6381823

rs_146461512

3 SubmittersRCV000878749 RCV005236383

NM_018979.4(WNK1):c.4104A>G (p.Thr1368=)

SNV
Germline

Chr12:884908

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
not specified

Criteria Provided
Conflicting Classifications

CA6382918

rs_142787842

3 SubmittersRCV000873761 RCV005408036

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

CA6383260

rs_72650763

5 SubmittersRCV000875533 RCV002354694 RCV002462210 RCV003948234

NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys)

SNV
Germline

Chr12:879658

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6382485

rs_74056058

2 SubmittersRCV000951805 RCV001811549

NM_018979.4(WNK1):c.3102A>G (p.Ala1034=)

SNV
Germline

Chr12:880990

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6382646

rs_747140718

2 SubmittersRCV000927693 RCV005004468

NM_018979.4(WNK1):c.264C>T (p.Ser88=)

SNV
Germline

Chr12:753829

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6381748

rs_773586473

3 SubmittersRCV001112360 RCV001398871 RCV005231976

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

CA8584227

rs_61755607

3 SubmittersRCV000938145 RCV002488018 RCV003489972

NM_018979.4(WNK1):c.459C>G (p.Pro153=)

SNV
Germline

Chr12:754024

Conflicting classifications of pathogenicity

Condition: not provided
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA478082708

rs_1446171264

2 SubmittersRCV000994761 RCV002067606

NM_018979.4(WNK1):c.3492G>A (p.Val1164=)

SNV
Germline

Chr12:883397

Conflicting classifications of pathogenicity

Condition: not provided
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6382793

rs_778613425

2 SubmittersRCV000994766 RCV002068719

NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)

SNV
Germline

Chr12:868410

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6382268

rs_372091476

5 SubmittersRCV001552917 RCV001001222 RCV001423306 RCV002434393

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

CA6381728

rs_754447060

2 SubmittersRCV001067970

NM_018979.4(WNK1):c.473G>C (p.Ser158Thr)

SNV
Germline

Chr12:754038

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231464226

rs_920732487

3 SubmittersRCV001051709 RCV001113717 RCV002339260

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6382146

rs_550716144

3 SubmittersRCV001052255 RCV002445276 RCV004693522

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

CA6382302

rs_187534119

4 SubmittersRCV001038247 RCV001566097 RCV002320240

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

CA6383131

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6383169

rs_557930357

4 SubmittersRCV001071156 RCV004693585 RCV005418983

NM_018979.4(WNK1):c.126G>A (p.Ala42=)

SNV
Germline

Chr12:753691

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA231463721

rs_935728437

2 SubmittersRCV001111894 RCV001402878

NM_018979.4(WNK1):c.198T>C (p.Arg66=)

SNV
Germline

Chr12:753763

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6381739

rs_777517901

2 SubmittersRCV001111897 RCV002555081

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

CA6381740

rs_368280492

3 SubmittersRCV001112358 RCV001213082 RCV002418582

NM_018979.4(WNK1):c.2710A>G (p.Thr904Ala)

SNV
Germline

Chr12:879909

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6382548

rs_752492830

2 SubmittersRCV001114720 RCV005012568

NM_018979.4(WNK1):c.3468C>G (p.Pro1156=)

SNV
Germline

Chr12:883038

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6382765

rs_753078534

2 SubmittersRCV001109194 RCV002556136

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

CA6382827

rs_772922134

2 SubmittersRCV001111530 RCV002327389

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

CA478084306

rs_1953580574

2 SubmittersRCV001109293 RCV003769115

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

CA6383224

rs_747791200

3 SubmittersRCV001114567 RCV002069847 RCV003405322

NM_018979.4(WNK1):c.6497C>T (p.Thr2166Ile)

SNV
Germline

Chr12:900524

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6383419

rs_762925275

2 SubmittersRCV001114898 RCV001856512

NM_032387.5(WNK4):c.246C>A (p.Asp82Glu)

SNV
Germline

Chr17:42780944

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA8583651

rs_373427674

2 SubmittersRCV001124180

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

CA8583677

rs_773898452

2 SubmittersRCV001126848 RCV002556765

NM_032387.5(WNK4):c.716C>G (p.Ser239Trp)

SNV
Germline

Chr17:42782855

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8583745

rs_199775692

4 SubmittersRCV001126852 RCV001355913 RCV004678966

NM_032387.5(WNK4):c.1405C>T (p.Arg469Trp)

SNV
Germline

Chr17:42785411

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8583979

rs_370770635

2 SubmittersRCV001127254 RCV004963137

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

CA8583982

rs_761294614

3 SubmittersRCV001123185 RCV002556661 RCV003727878

NM_032387.5(WNK4):c.3032C>T (p.Pro1011Leu)

SNV
Germline

Chr17:42795634

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8584514

rs_61755628

2 SubmittersRCV001125383 RCV005286315

NM_003590.5(CUL3):c.1036T>C (p.Leu346=)

SNV
Germline

Chr2:224506126

Conflicting classifications of pathogenicity

Condition: not provided
Pseudohypoaldosteronism type 2E

Criteria Provided
Conflicting Classifications

CA2140047

rs_758182990

2 SubmittersRCV002556921 RCV001137312

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

CA66591720

rs_928887003

2 SubmittersRCV001142162 RCV003433029

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

CA383334332

rs_1395162926

2 SubmittersRCV001197784 RCV001521461

NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)

SNV
Germline

Chr12:868466

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6382277

rs_72649856

2 SubmittersRCV001208855 RCV002436804

NM_213655.5(WNK1):c.3402T>G (p.Tyr1134Ter)

SNV
Germline

Chr12:868873

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Single Submitter

CA383342027

rs_1951905881

1 SubmittersRCV001228794

NM_213655.5(WNK1):c.2722G>T (p.Glu908Ter)

SNV
Germline

Chr12:868193

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Single Submitter

CA383339483

rs_1592096494

1 SubmittersRCV001239765

NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)

SNV
Germline

Chr12:885854

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6383059

rs_770568108

2 SubmittersRCV001244183 RCV002568578

NM_213655.5(WNK1):c.3633+1G>T

SNV
Germline

Chr12:869105

Likely pathogenic

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA6382381

rs_762015494

2 SubmittersRCV001225976 RCV001333784 RCV001336290

NM_003590.5(CUL3):c.641C>G (p.Ala214Gly)

SNV
Germline

Chr2:224513537

Pathogenic

Pseudohypoaldosteronism type 2E

Criteria Provided
Single Submitter

CA350831110

rs_1692920727

1 SubmittersRCV001253061

NM_032387.5(WNK4):c.1510C>T (p.Gln504Ter)

SNV
Germline

Chr17:42787311

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA8584009

rs_200593980

3 SubmittersRCV003085882 RCV004587427 RCV005019658

NM_018979.4(WNK1):c.4788A>G (p.Gln1596=)

SNV
Germline

Chr12:885592

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA6383031

rs_371448826

2 SubmittersRCV001309742

NM_018979.4(WNK1):c.5086G>A (p.Ala1696Thr)

SNV
Germline

Chr12:885890

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6383064

rs_760615496

2 SubmittersRCV001345582

NM_018979.4(WNK1):c.5325C>T (p.Ser1775=)

SNV
Germline

Chr12:887265

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6383134

rs_373370309

3 SubmittersRCV003394006 RCV001366159

NM_213655.5(WNK1):c.2436C>A (p.Tyr812Ter)

SNV
Germline

Chr12:867907

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Single Submitter

CA383338740

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

CA6381775

rs_753342253

2 SubmittersRCV001397924 RCV002377600

NM_213655.5(WNK1):c.2201C>T (p.Pro734Leu)

SNV
Germline

Chr12:865171

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases
WNK1-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6382132

rs_564717613

5 SubmittersRCV001415676 RCV002432152 RCV003965776 RCV004526849 RCV003156345

NM_018979.4(WNK1):c.3292A>G (p.Thr1098Ala)

SNV
Germline

Chr12:881993

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6382732

rs_138216561

2 SubmittersRCV001392609 RCV004590372

NM_018979.4(WNK1):c.5584-5A>G

SNV
Germline

Chr12:896066

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6383251

rs_771801197

3 SubmittersRCV001417028 RCV002368303

NM_018979.4(WNK1):c.6958A>G (p.Met2320Val)

SNV
Germline

Chr12:908601

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
not specified

Criteria Provided
Conflicting Classifications

CA6383537

rs_144574284

2 SubmittersRCV001401427 RCV004690101

NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser)

SNV
Germline

Chr5:137639881

Likely pathogenic

Pseudohypoaldosteronism type 2D

Criteria Provided
Single Submitter

CA361048672

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

CA399645199

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

CA231495656

rs_763686798

4 SubmittersRCV001967093 RCV002425353 RCV003395328

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

CA383337451

rs_2154096075

1 SubmittersRCV002050443

NM_018979.4(WNK1):c.5463G>A (p.Ala1821=)

SNV
Germline

Chr12:890467

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6383197

rs_770977819

2 SubmittersRCV002036974

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

CA383336730

rs_761380468

2 SubmittersRCV001902015 RCV004039824

NM_213655.5(WNK1):c.2464A>G (p.Ile822Val)

SNV
Germline

Chr12:867935

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6382179

rs_751787202

3 SubmittersRCV001912503 RCV004041474

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

CA383341960

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

CA383342306

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

CA6382921

rs_574069625

2 SubmittersRCV002161609 RCV002337385

NM_003590.5(CUL3):c.563A>G (p.Gln188Arg)

SNV
Germline

Chr2:224513615

Conflicting classifications of pathogenicity

Neurodevelopmental disorder with or without autism or seizures
Condition: not provided
Pseudohypoaldosteronism type 2E
Neurodevelopmental disorder with or without autism or seizures

Criteria Provided
Conflicting Classifications

CA66535843

rs_991634550

3 SubmittersRCV002227684 RCV003089222 RCV002505889

NM_018979.4(WNK1):c.5448+1G>T

SNV
Germline

Chr12:889224

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA383333348

rs_1953966878

3 SubmittersRCV002353856 RCV005008555

NM_018979.4(WNK1):c.5491A>G (p.Thr1831Ala)

SNV
Germline

Chr12:890495

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA6383204

rs_763932979

3 SubmittersRCV002366636 RCV003395463 RCV005227648

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

CA383325652

rs_768622577

1 SubmittersRCV003084515

NM_003590.5(CUL3):c.137G>A (p.Arg46His)

SNV
Germline

Chr2:224557786

Conflicting classifications of pathogenicity

Condition: not provided
Neurodevelopmental disorder with or without autism or seizures
Pseudohypoaldosteronism type 2E
not specified

Criteria Provided
Conflicting Classifications

CA2140260

rs_190453078

3 SubmittersRCV002598952 RCV005028243 RCV005434004

NM_213655.5(WNK1):c.2745C>G (p.Asp915Glu)

SNV
Germline

Chr12:868216

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
not specified

Criteria Provided
Conflicting Classifications

CA6382231

rs_367706591

2 SubmittersRCV003111900 RCV004690387

NM_018979.4(WNK1):c.1400+1G>A

SNV
Germline

Chr12:857250

Likely pathogenic

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Single Submitter

CA383333700

rs_2548597368

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

CA383342738

rs_2548836529

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

CA383330019

rs_2549037336

1 SubmittersRCV002853072

NM_032387.5(WNK4):c.2893C>T (p.Leu965Phe)

SNV
Germline

Chr17:42795314

Conflicting classifications of pathogenicity

Condition: not provided
WNK4-related disorder
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA8584460

rs_200640984

3 SubmittersRCV002909891 RCV004753591 RCV005399020

NM_032387.5(WNK4):c.374C>G (p.Pro125Arg)

SNV
Germline

Chr17:42781072

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA8583673

rs_369221665

4 SubmittersRCV002929213 RCV005288854 RCV005059093 RCV005019502

NM_213655.5(WNK1):c.3209T>A (p.Leu1070Ter)

SNV
Germline

Chr12:868680

Pathogenic

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Single Submitter

CA383341537

rs_2548798737

1 SubmittersRCV003057806

NM_018979.4(WNK1):c.1905T>A (p.Asp635Glu)

SNV
Germline

Chr12:861297

Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA383335766

rs_770961582

2 SubmittersRCV003231657 RCV005216025

NM_032387.5(WNK4):c.1459G>A (p.Glu487Lys)

SNV
Germline

Chr17:42785465

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA8583991

rs_752469952

2 SubmittersRCV003242114 RCV005012845

NM_018979.4(WNK1):c.3799C>T (p.Arg1267Ter)

SNV
Germline

Chr12:884198

Conflicting classifications of pathogenicity

Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
WNK1-related disorder

Criteria Provided
Conflicting Classifications

CA383329915

rs_1592168824

2 SubmittersRCV005216080 RCV003391259

NM_032387.5(WNK4):c.2723C>T (p.Pro908Leu)

SNV
Germline

Chr17:42795144

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

CA8584427

rs_758058076

3 SubmittersRCV003544789 RCV004963685 RCV005022010

NM_018979.4(WNK1):c.3112-6T>G

SNV
Germline

Chr12:881686

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

CA602647298

rs_1409690582

2 SubmittersRCV003786223

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

CA383337455

rs_1289250994

1 SubmittersRCV003809704

NM_003590.5(CUL3):c.1312A>G (p.Arg438Gly)

SNV
Germline

Chr2:224503717

Pathogenic

Pseudohypoaldosteronism type 2E

Criteria Provided
Single Submitter

rs_2469974393

1 SubmittersRCV004594728

NM_213655.5(WNK1):c.2560C>T (p.Gln854Ter)

SNV
Germline

Chr12:868031

Likely pathogenic

Pseudohypoaldosteronism type 2C

No Assertion Criteria Provided

1 SubmittersRCV004767625

NM_032387.5(WNK4):c.2212C>T (p.Arg738Trp)

SNV
Germline

Chr17:42793646

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004678542 RCV005017205

NM_032387.5(WNK4):c.623G>A (p.Arg208Gln)

SNV
Germline

Chr17:42782762

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pseudohypoaldosteronism type 2B

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004967481 RCV005017323

NM_018979.4(WNK1):c.2832+1G>C

SNV
Germline

Chr12:880032

Likely pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005005492

NM_018979.4(WNK1):c.4719A>G (p.Pro1573=)

SNV
Germline

Chr12:885523

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005013299

NM_003590.5(CUL3):c.427G>T (p.Gly143Ter)

SNV
Germline

Chr2:224514724

Likely pathogenic

Pseudohypoaldosteronism type 2E
Neurodevelopmental disorder with or without autism or seizures

Criteria Provided
Single Submitter

1 SubmittersRCV005020658

NM_017415.3(KLHL3):c.1291C>T (p.Arg431Trp)

SNV
Germline

Chr5:137637324

Likely pathogenic

Pseudohypoaldosteronism type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005033285

NM_017415.3(KLHL3):c.234G>A (p.Met78Ile)

SNV
Germline

Chr5:137709757

Likely pathogenic

Pseudohypoaldosteronism type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005043147

NM_018979.4(WNK1):c.6376C>T (p.Arg2126Ter)

SNV
Germline

Chr12:897609

Pathogenic

Neuropathy, hereditary sensory and autonomic, type 2A
Pseudohypoaldosteronism type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005219366