Total 192 pathogenic variants reported for Pseudohypoaldosteronism type 2
Variant Name |
Variant Type |
Variant Genomic Location |
Clinical Significance |
Phenotype Condition |
Review Status |
ClinGen Allele |
dbSNP ID |
Variation/condition record |
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter)
|
SNV Germline |
Chr12:868697 |
Pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Multiple Submitters No Conflicts |
CA117304 |
rs_111033591 |
4 SubmittersRCV000005475RCV000480631RCV000822434 |
NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu)
|
SNV Germline |
Chr17:42787494 |
Pathogenic |
Pseudohypoaldosteronism type 2B |
Criteria Provided Single Submitter |
CA254225 |
rs_137853092 |
3 SubmittersRCV000008099 |
NM_032387.5(WNK4):c.1684G>A (p.Glu562Lys)
|
SNV Germline |
Chr17:42787485 |
Pathogenic |
Pseudohypoaldosteronism type 2B |
No Assertion Criteria Provided |
CA254226 |
rs_137853093 |
2 SubmittersRCV000008100 |
NM_032387.5(WNK4):c.1691A>C (p.Asp564Ala)
|
SNV Germline |
Chr17:42787492 |
Pathogenic |
Pseudohypoaldosteronism type 2B |
No Assertion Criteria Provided |
CA254227 |
rs_137853094 |
2 SubmittersRCV000008101 |
NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly)
|
SNV Germline |
Chr2:224503791 |
Pathogenic |
Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA129109 |
rs_199469656 |
2 SubmittersRCV000023258RCV000128493 |
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys)
|
SNV Germline |
Chr5:137639916 |
Pathogenic |
Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA129301 |
rs_199469639 |
2 SubmittersRCV000023473RCV000128507 |
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu)
|
SNV Germline |
Chr5:137637386 |
Pathogenic |
Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA129302 |
rs_199469641 |
2 SubmittersRCV000023474RCV000128521 |
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)
|
SNV Germline |
Chr5:137628305 |
Pathogenic |
Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA129303 |
rs_199469636 |
4 SubmittersRCV000023475RCV000128519RCV002513190 |
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)
|
SNV Germline |
Chr5:137661950 |
Pathogenic |
Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A |
Criteria Provided Single Submitter |
CA129304 |
rs_199469638 |
3 SubmittersRCV000023476RCV000128514 |
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)
|
SNV Germline |
Chr5:137639874 |
Pathogenic |
Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA129306 |
rs_199469640 |
2 SubmittersRCV000023477RCV000128515 |
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)
|
SNV Germline |
Chr5:137628306 |
Pathogenic/Likely pathogenic |
Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A |
Criteria Provided Multiple Submitters No Conflicts |
CA129308 |
rs_199469635 |
4 SubmittersRCV000023479RCV000128518 |
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn)
|
SNV Germline |
Chr5:137637317 |
Pathogenic |
Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA129309 |
rs_199469632 |
2 SubmittersRCV000023480RCV000128523 |
NM_017415.3(KLHL3):c.1193C>T (p.Ala398Val)
|
SNV Germline |
Chr5:137638979 |
Pathogenic |
Pseudohypoaldosteronism type 2D |
No Assertion Criteria Provided |
CA129795 |
rs_387907155 |
1 SubmittersRCV000024252 |
NM_017415.3(KLHL3):c.1587C>A (p.Asn529Lys)
|
SNV Germline |
Chr5:137628301 |
Pathogenic |
Pseudohypoaldosteronism type 2D |
No Assertion Criteria Provided |
|
rs_562736621 |
1 SubmittersRCV000024253 |
NM_017415.3(KLHL3):c.1277C>T (p.Pro426Leu)
|
SNV Germline |
Chr5:137637338 |
Pathogenic |
Pseudohypoaldosteronism type 2D |
No Assertion Criteria Provided |
CA129796 |
rs_387907156 |
1 SubmittersRCV000024254 |
NM_003590.5(CUL3):c.1207-12T>G
|
SNV Germline |
Chr2:224503834 |
Pathogenic |
Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269954 |
rs_199469651 |
2 SubmittersRCV000023254RCV000128486 |
NM_003590.5(CUL3):c.1207-1G>A
|
SNV Germline |
Chr2:224503823 |
Pathogenic |
Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269955 |
rs_199469654 |
2 SubmittersRCV000023257RCV000128487 |
NM_003590.5(CUL3):c.1207-26A>G
|
SNV Germline |
Chr2:224503848 |
Pathogenic |
Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269956 |
rs_199469650 |
2 SubmittersRCV000023252RCV000128488 |
NM_003590.5(CUL3):c.1207-28T>G
|
SNV Germline |
Chr2:224503850 |
Pathogenic |
Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269957 |
rs_199469649 |
2 SubmittersRCV000023253RCV000128489 |
NM_003590.5(CUL3):c.1207-3C>T
|
SNV Germline |
Chr2:224503825 |
Pathogenic |
Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269958 |
rs_199469653 |
2 SubmittersRCV000023256RCV000128490 |
NM_003590.5(CUL3):c.1207-5T>A
|
SNV Germline |
Chr2:224503827 |
Pathogenic |
Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269959 |
rs_199469652 |
2 SubmittersRCV000023255RCV000128491 |
NM_003590.5(CUL3):c.1236G>A (p.Leu412=)
|
SNV Germline |
Chr2:224503793 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269960 |
rs_199469655 |
1 SubmittersRCV000128492 |
NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg)
|
SNV Germline |
Chr2:224503653 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269962 |
rs_199469658 |
1 SubmittersRCV000128494 |
NM_003590.5(CUL3):c.1377+1G>C
|
SNV Germline |
Chr2:224503651 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269965 |
rs_199469660 |
1 SubmittersRCV000128497 |
NM_003590.5(CUL3):c.1377+3A>G
|
SNV Germline |
Chr2:224503649 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269966 |
rs_199469661 |
1 SubmittersRCV000128498 |
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter)
|
SNV Germline |
Chr5:137634077 |
Pathogenic |
Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D |
No Assertion Criteria Provided |
CA269967 |
rs_199469644 |
2 SubmittersRCV000128499RCV001610387 |
NM_017415.3(KLHL3):c.753+1G>A
|
SNV Germline |
Chr5:137661914 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269970 |
rs_199469648 |
1 SubmittersRCV000128501 |
NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr)
|
SNV Germline |
Chr5:137628408 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269972 |
rs_199469633 |
1 SubmittersRCV000128503 |
NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu)
|
SNV Germline |
Chr5:137709761 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269973 |
rs_199469623 |
1 SubmittersRCV000128504 |
NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe)
|
SNV Germline |
Chr5:137692320 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269974 |
rs_199469626 |
1 SubmittersRCV000128505 |
NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala)
|
SNV Germline |
Chr5:137698396 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269975 |
rs_199469625 |
1 SubmittersRCV000128506 |
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr)
|
SNV Germline |
Chr5:137637335 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269977 |
rs_199469642 |
1 SubmittersRCV000128509 |
NM_017415.3(KLHL3):c.232A>G (p.Met78Val)
|
SNV Germline |
Chr5:137709759 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269978 |
rs_199469624 |
1 SubmittersRCV000128510 |
NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr)
|
SNV Germline |
Chr5:137628387 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269979 |
rs_199469634 |
1 SubmittersRCV000128511 |
NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter)
|
SNV Germline |
Chr5:137692381 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269980 |
rs_199469637 |
1 SubmittersRCV000128512 |
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg)
|
SNV Germline |
Chr5:137639955 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269982 |
rs_199469627 |
1 SubmittersRCV000128513 |
NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln)
|
SNV Germline |
Chr5:137639021 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269983 |
rs_199469629 |
1 SubmittersRCV000128516 |
NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp)
|
SNV Germline |
Chr5:137625765 |
Pathogenic |
Pseudohypoaldosteronism type 2A |
No Assertion Criteria Provided |
CA269985 |
rs_199469646 |
1 SubmittersRCV000128520 |
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)
|
SNV Germline |
Chr5:137637320 |
Likely pathogenic |
Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2D |
Criteria Provided Single Submitter |
CA269986 |
rs_199469631 |
2 SubmittersRCV000128522RCV002477257 |
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys)
|
SNV Germline |
Chr12:865122 |
Conflicting classifications of pathogenicity |
Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA235850 |
rs_786205473 |
5 SubmittersRCV000171203RCV000705508RCV002426814 |
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
SNV Germline |
Chr12:883483 |
Conflicting classifications of pathogenicity |
Condition: not provided Pseudohypoaldosteronism type 2C not specified Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases WNK1-related disorder |
Criteria Provided Conflicting Classifications |
CA240768 |
rs_72650720 |
7 SubmittersRCV000175092RCV000313205RCV000999891RCV001081613RCV002326955RCV003955035 |
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)
|
SNV Germline |
Chr12:896221 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary sensory and autonomic neuropathy type 2 Pseudohypoaldosteronism type 2A Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA242472 |
rs_201995891 |
5 SubmittersRCV000176498RCV000345610RCV000288019RCV002362898RCV001043119 |
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg)
|
SNV Germline |
Chr12:900651 |
Conflicting classifications of pathogenicity |
not specified Inborn genetic diseases Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA202065 |
rs_72650768 |
4 SubmittersRCV000176681RCV002381573RCV002272159RCV000872951 |
NM_017415.3(KLHL3):c.1519G>A (p.Val507Ile)
|
SNV Germline |
Chr5:137628369 |
Likely pathogenic |
Pseudohypoaldosteronism type 2D |
No Assertion Criteria Provided |
CA279652 |
rs_863225302 |
1 SubmittersRCV000201955 |
NM_213655.5(WNK1):c.2398C>T (p.Gln800Ter)
|
SNV Germline |
Chr12:867869 |
Pathogenic/Likely pathogenic |
Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Multiple Submitters No Conflicts |
CA10584438 |
rs_879254311 |
2 SubmittersRCV000236734RCV002518469 |
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)
|
SNV Germline |
Chr12:868076 |
Conflicting classifications of pathogenicity |
Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6382210 |
rs_377073379 |
5 SubmittersRCV000237034RCV001052902RCV001334035RCV002429149 |
NM_003590.5(CUL3):c.1377G>A (p.Lys459=)
|
SNV Germline |
Chr2:224503652 |
Likely pathogenic |
Pseudohypoaldosteronism type 2A |
Criteria Provided Single Submitter |
CA10602470 |
rs_886038765 |
1 SubmittersRCV000256456 |
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
SNV Germline |
Chr12:896637 |
Conflicting classifications of pathogenicity |
Condition: not provided Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA6383340 |
rs_151331381 |
8 SubmittersRCV000321750RCV000382313RCV001081595 |
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
SNV Germline |
Chr12:827183 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA6381881 |
rs_72648621 |
8 SubmittersRCV000278467RCV000378664RCV001081594 |
NM_003590.5(CUL3):c.*2272T>C
|
SNV Germline |
Chr2:224471973 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10612582 |
rs_556914502 |
2 SubmittersRCV000380730RCV001141958RCV002274986 |
NM_003590.5(CUL3):c.*2130A>G
|
SNV Germline |
Chr2:224472115 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Condition: not provided Pseudohypoaldosteronism type 2E |
Criteria Provided Conflicting Classifications |
CA10612590 |
rs_555995940 |
2 SubmittersRCV000292532RCV002274987RCV001143759 |
NM_003590.5(CUL3):c.*3665T>A
|
SNV Germline |
Chr2:224470580 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E |
Criteria Provided Conflicting Classifications |
CA10612909 |
rs_374191606 |
1 SubmittersRCV000371517RCV001143652 |
NM_003590.5(CUL3):c.*89A>T
|
SNV Germline |
Chr2:224474156 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E |
Criteria Provided Conflicting Classifications |
CA10612934 |
rs_192166927 |
1 SubmittersRCV000393904RCV001140228 |
NM_003590.5(CUL3):c.*3753T>C
|
SNV Germline |
Chr2:224470492 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E |
Criteria Provided Conflicting Classifications |
CA10614351 |
rs_558805673 |
1 SubmittersRCV000370481RCV001143650 |
NM_003590.5(CUL3):c.*294A>G
|
SNV Germline |
Chr2:224473951 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2E Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10614375 |
rs_532967850 |
2 SubmittersRCV000371433RCV001140225RCV003311765 |
NM_017415.3(KLHL3):c.*2360G>A
|
SNV Germline |
Chr5:137619738 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10619065 |
rs_533076689 |
1 SubmittersRCV000356476RCV001153999 |
NM_017415.3(KLHL3):c.*1583C>T
|
SNV Germline |
Chr5:137620515 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10619068 |
rs_554048189 |
1 SubmittersRCV000350076RCV001154858 |
NM_017415.3(KLHL3):c.*299G>A
|
SNV Germline |
Chr5:137621799 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10619084 |
rs_539132895 |
1 SubmittersRCV000293639RCV001154113 |
NM_017415.3(KLHL3):c.1021+5G>A
|
SNV Germline |
Chr5:137639855 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D Condition: not provided |
Criteria Provided Conflicting Classifications |
CA3422320 |
rs_183499982 |
2 SubmittersRCV000366474RCV001156624RCV003718222 |
NM_017415.3(KLHL3):c.*4066C>T
|
SNV Germline |
Chr5:137618032 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10620201 |
rs_544519958 |
1 SubmittersRCV000391622RCV001153902 |
NM_017415.3(KLHL3):c.*790G>A
|
SNV Germline |
Chr5:137621308 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10620231 |
rs_572765305 |
1 SubmittersRCV000303268RCV001152838 |
NM_017415.3(KLHL3):c.*224G>T
|
SNV Germline |
Chr5:137621874 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10620234 |
rs_536807069 |
1 SubmittersRCV000350908RCV001154114 |
NM_017415.3(KLHL3):c.*141C>T
|
SNV Germline |
Chr5:137621957 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10622704 |
rs_189064290 |
1 SubmittersRCV000279955RCV001154117 |
NM_017415.3(KLHL3):c.756G>A (p.Thr252=)
|
SNV Germline |
Chr5:137658278 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA3422390 |
rs_143617205 |
1 SubmittersRCV000278015RCV001151153 |
NM_017415.3(KLHL3):c.-303G>C
|
SNV Germline |
Chr5:137735949 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10622737 |
rs_567542768 |
1 SubmittersRCV000367355RCV001156727 |
NM_017415.3(KLHL3):c.*1651C>T
|
SNV Germline |
Chr5:137620447 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA10622780 |
rs_577834025 |
1 SubmittersRCV000292776RCV001154857 |
NM_017415.3(KLHL3):c.*39G>A
|
SNV Germline |
Chr5:137622059 |
Conflicting classifications of pathogenicity |
Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2D |
Criteria Provided Conflicting Classifications |
CA3422096 |
rs_762735618 |
1 SubmittersRCV000399262RCV001154119 |
NM_018979.4(WNK1):c.2468A>G (p.His823Arg)
|
SNV Germline |
Chr12:879667 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6382487 |
rs_56015776 |
3 SubmittersRCV000384816RCV000532276RCV000994765 |
NM_018979.4(WNK1):c.3899C>T (p.Ser1300Phe)
|
SNV Germline |
Chr12:884703 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA6382893 |
rs_143361850 |
3 SubmittersRCV000281301RCV002338889RCV001240672 |
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)
|
SNV Germline |
Chr12:908664 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6383550 |
rs_146042595 |
6 SubmittersRCV000291824RCV000542452RCV001546004RCV002411199 |
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)
|
SNV Germline |
Chr12:861226 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6382040 |
rs_146450828 |
5 SubmittersRCV000322058RCV000647879RCV001508679RCV002411203 |
NM_018979.4(WNK1):c.3354A>C (p.Pro1118=)
|
SNV Germline |
Chr12:882055 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA6382748 |
rs_549781052 |
2 SubmittersRCV000325167RCV002520845 |
NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg)
|
SNV Germline |
Chr17:42795258 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA8584448 |
rs_200187290 |
2 SubmittersRCV000362014RCV002521110 |
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)
|
SNV Germline |
Chr12:754143 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6381812 |
rs_72647372 |
6 SubmittersRCV000286715RCV000558626RCV001812801RCV002356420 |
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val)
|
SNV Germline |
Chr12:871331 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6382410 |
rs_147099510 |
6 SubmittersRCV000354117RCV000538924RCV001093112RCV002348045 |
NM_018979.4(WNK1):c.2652G>A (p.Ala884=)
|
SNV Germline |
Chr12:879851 |
Conflicting classifications of pathogenicity |
Hereditary sensory and autonomic neuropathy type 2 Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6382530 |
rs_142528714 |
3 SubmittersRCV000302917RCV000359952RCV000647862RCV003391116 |
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)
|
SNV Germline |
Chr12:881768 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided Inborn genetic diseases not specified |
Criteria Provided Conflicting Classifications |
CA6382686 |
rs_201379287 |
5 SubmittersRCV000383285RCV000647831RCV001535659RCV002374531RCV003323505 |
NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg)
|
SNV Germline |
Chr12:886062 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6383097 |
rs_752078094 |
4 SubmittersRCV000383349RCV000687160RCV001770248RCV002356421 |
NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys)
|
SNV Germline |
Chr12:896320 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6383290 |
rs_117016551 |
3 SubmittersRCV000315167RCV000875539RCV001812792 |
NM_018979.4(WNK1):c.295C>T (p.Pro99Ser)
|
SNV Germline |
Chr12:753860 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA6381751 |
rs_563691424 |
2 SubmittersRCV000355967RCV001487120 |
NM_018979.4(WNK1):c.296C>T (p.Pro99Leu)
|
SNV Germline |
Chr12:753861 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA6381752 |
rs_560595238 |
2 SubmittersRCV000333359RCV001859861 |
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)
|
SNV Germline |
Chr12:861247 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided WNK1-related disorder Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6382044 |
rs_149388376 |
6 SubmittersRCV000286984RCV000524948RCV001812802RCV003967906RCV002411204 |
NM_018979.4(WNK1):c.4384G>C (p.Gly1462Arg)
|
SNV Germline |
Chr12:885188 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
CA6382967 |
rs_368621387 |
2 SubmittersRCV000358041RCV001350772 |
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys)
|
SNV Germline |
Chr12:896356 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6383295 |
rs_201766777 |
3 SubmittersRCV000367530RCV000647841RCV002365355 |
NM_032387.5(WNK4):c.1885C>T (p.Arg629Cys)
|
SNV Germline |
Chr17:42788151 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B Condition: not provided |
Criteria Provided Conflicting Classifications |
CA8584147 |
rs_61755600 |
3 SubmittersRCV000378074RCV001840486 |
NM_032387.5(WNK4):c.2005C>T (p.Arg669Trp)
|
SNV Germline |
Chr17:42788372 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA8584179 |
rs_769815091 |
3 SubmittersRCV000402811RCV002522972RCV003243078 |
NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys)
|
SNV Germline |
Chr12:865332 |
Conflicting classifications of pathogenicity |
Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases WNK1-related disorder |
Criteria Provided Conflicting Classifications |
CA6382147 |
rs_72649848 |
6 SubmittersRCV000488140RCV001085123RCV001333783RCV002446950RCV003902736 |
NM_018979.4(WNK1):c.2401A>G (p.Ile801Val)
|
SNV Germline |
Chr12:879600 |
Conflicting classifications of pathogenicity |
not specified Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
CA6382475 |
rs_139449198 |
2 SubmittersRCV000508056RCV000808107 |
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu)
|
SNV Germline |
Chr12:868842 |
Conflicting classifications of pathogenicity |
Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6382347 |
rs_201042606 |
4 SubmittersRCV000519535RCV000819734RCV002456022 |
NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile)
|
SNV Germline |
Chr12:885993 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6383085 |
rs_375562377 |
4 SubmittersRCV000541660RCV001109296RCV002358560RCV003480680 |
NM_018979.4(WNK1):c.46C>T (p.Leu16=)
|
SNV Germline |
Chr12:753611 |
Conflicting classifications of pathogenicity |
Condition: not provided Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
CA478082934 |
rs_1443431827 |
2 SubmittersRCV000596187RCV003767383 |
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)
|
SNV Germline |
Chr12:885948 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases WNK1-related disorder |
Criteria Provided Conflicting Classifications |
CA6383073 |
rs_756614581 |
4 SubmittersRCV000647854RCV002358851RCV003420135 |
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)
|
SNV Germline |
Chr12:896207 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
CA6383270 |
rs_200979623 |
3 SubmittersRCV000647832RCV002261155RCV002360614 |
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp)
|
SNV Germline |
Chr12:908781 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases not specified |
Criteria Provided Conflicting Classifications |
CA6383568 |
rs_56262445 |
4 SubmittersRCV000647838RCV002422364RCV003994064 |
NM_018979.4(WNK1):c.1269G>A (p.Ser423=)
|
SNV Germline |
Chr12:830118 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
CA231474684 |
rs_955095527 |
2 SubmittersRCV000647845 |
NM_018979.4(WNK1):c.128C>G (p.Ala43Gly)
|
SNV Germline |
Chr12:753693 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_775564750 |
3 SubmittersRCV000685026RCV001111895RCV002386157 |
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)
|
SNV Germline |
Chr12:813747 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_200234585 |
5 SubmittersRCV000691306RCV002442441RCV003480773 |
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)
|
SNV Germline |
Chr12:896338 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_72650764 |
4 SubmittersRCV000692654RCV001108934RCV003482299RCV002360748 |
NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val)
|
SNV Germline |
Chr12:885627 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_781667314 |
3 SubmittersRCV000706095RCV004026711 |
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)
|
SNV Germline |
Chr12:878254 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_768622577 |
3 SubmittersRCV000703964RCV001111333RCV002343550 |
NM_018979.4(WNK1):c.7008A>G (p.Gln2336=)
|
SNV Germline |
Chr12:908651 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_369782445 |
2 SubmittersRCV000695459RCV001114899 |
NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala)
|
SNV Germline |
Chr12:885872 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_771546256 |
2 SubmittersRCV000714786RCV000714785RCV002067010 |
NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter)
|
SNV Germline |
Chr12:868391 |
Pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_1478989689 |
3 SubmittersRCV000788052RCV001869016 |
NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys)
|
SNV Germline |
Chr12:868004 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_200794710 |
3 SubmittersRCV000814722RCV001731942RCV003353051 |
NM_213655.5(WNK1):c.2636G>A (p.Trp879Ter)
|
SNV Germline |
Chr12:868107 |
Pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
rs_1592095957 |
1 SubmittersRCV000815973 |
NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)
|
SNV Germline |
Chr12:882032 |
Pathogenic |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Single Submitter |
|
rs_1051081383 |
1 SubmittersRCV000797300 |
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His)
|
SNV Germline |
Chr12:884739 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_375565845 |
2 SubmittersRCV000798637RCV002334504 |
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)
|
SNV Germline |
Chr12:884939 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_758763241 |
3 SubmittersRCV000803133RCV002336619 |
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu)
|
SNV Germline |
Chr12:896201 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_759895083 |
3 SubmittersRCV000807813RCV002363078RCV003392615 |
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr)
|
SNV Germline |
Chr12:896228 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_184764148 |
2 SubmittersRCV000817175RCV002363138 |
NM_018979.4(WNK1):c.5638G>A (p.Ala1880Thr)
|
SNV Germline |
Chr12:896125 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases Condition: not provided WNK1-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_72650763 |
4 SubmittersRCV000875533RCV002354694RCV002462210RCV003948234 |
NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys)
|
SNV Germline |
Chr12:879658 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_74056058 |
2 SubmittersRCV000951805RCV001811549 |
NM_018979.4(WNK1):c.264C>T (p.Ser88=)
|
SNV Germline |
Chr12:753829 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
|
rs_773586473 |
2 SubmittersRCV001112360RCV001398871 |
NM_032387.5(WNK4):c.2157+6G>C
|
SNV Germline |
Chr17:42788803 |
Conflicting classifications of pathogenicity |
Condition: not provided Pseudohypoaldosteronism type 2B not specified |
Criteria Provided Conflicting Classifications |
|
rs_61755607 |
3 SubmittersRCV000938145RCV002488018RCV003489972 |
NM_018979.4(WNK1):c.459C>G (p.Pro153=)
|
SNV Germline |
Chr12:754024 |
Conflicting classifications of pathogenicity |
Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_1446171264 |
2 SubmittersRCV000994761RCV002067606 |
NM_018979.4(WNK1):c.3492G>A (p.Val1164=)
|
SNV Germline |
Chr12:883397 |
Conflicting classifications of pathogenicity |
Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_778613425 |
2 SubmittersRCV000994766RCV002068719 |
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)
|
SNV Germline |
Chr12:868410 |
Conflicting classifications of pathogenicity |
not specified Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_372091476 |
5 SubmittersRCV001001222RCV001423306RCV001552917RCV002434393 |
NM_018979.4(WNK1):c.131C>T (p.Ala44Val)
|
SNV Germline |
Chr12:753696 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_754447060 |
2 SubmittersRCV001067970 |
NM_018979.4(WNK1):c.473G>C (p.Ser158Thr)
|
SNV Germline |
Chr12:754038 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_920732487 |
3 SubmittersRCV001051709RCV001113717RCV002339260 |
NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln)
|
SNV Germline |
Chr12:865330 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_550716144 |
2 SubmittersRCV001052255RCV002445276 |
NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val)
|
SNV Germline |
Chr12:868578 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_187534119 |
4 SubmittersRCV001038247RCV001566097RCV002320240 |
NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val)
|
SNV Germline |
Chr12:887252 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_770566791 |
2 SubmittersRCV001043392 |
NM_018979.4(WNK1):c.5442G>A (p.Ala1814=)
|
SNV Germline |
Chr12:889217 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_557930357 |
2 SubmittersRCV001071156 |
NM_018979.4(WNK1):c.126G>A (p.Ala42=)
|
SNV Germline |
Chr12:753691 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
|
rs_935728437 |
2 SubmittersRCV001111894RCV001402878 |
NM_018979.4(WNK1):c.198T>C (p.Arg66=)
|
SNV Germline |
Chr12:753763 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
|
rs_777517901 |
2 SubmittersRCV001111897RCV002555081 |
NM_018979.4(WNK1):c.209C>G (p.Ala70Gly)
|
SNV Germline |
Chr12:753774 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_368280492 |
3 SubmittersRCV001112358RCV001213082RCV002418582 |
NM_018979.4(WNK1):c.3468C>G (p.Pro1156=)
|
SNV Germline |
Chr12:883038 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
|
rs_753078534 |
2 SubmittersRCV001109194RCV002556136 |
NM_018979.4(WNK1):c.3698C>T (p.Ala1233Val)
|
SNV Germline |
Chr12:883808 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_772922134 |
2 SubmittersRCV001111530RCV002327389 |
NM_018979.4(WNK1):c.4830G>A (p.Val1610=)
|
SNV Germline |
Chr12:885634 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_1953580574 |
2 SubmittersRCV001109293RCV003769115 |
NM_018979.4(WNK1):c.5513C>T (p.Ser1838Phe)
|
SNV Germline |
Chr12:894565 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C WNK1-related disorder |
Criteria Provided Conflicting Classifications |
|
rs_747791200 |
3 SubmittersRCV001114567RCV002069847RCV003405322 |
NM_018979.4(WNK1):c.6497C>T (p.Thr2166Ile)
|
SNV Germline |
Chr12:900524 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Conflicting Classifications |
|
rs_762925275 |
2 SubmittersRCV001114898RCV001856512 |
NM_032387.5(WNK4):c.383C>G (p.Pro128Arg)
|
SNV Germline |
Chr17:42781081 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_773898452 |
2 SubmittersRCV001126848RCV002556765 |
NM_032387.5(WNK4):c.1414C>G (p.Gln472Glu)
|
SNV Germline |
Chr17:42785420 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B Inborn genetic diseases Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_761294614 |
3 SubmittersRCV001123185RCV002556661RCV003727878 |
NM_003590.5(CUL3):c.1036T>C (p.Leu346=)
|
SNV Germline |
Chr2:224506126 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2E Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_758182990 |
2 SubmittersRCV001137312RCV002556921 |
NM_003590.5(CUL3):c.-246C>T
|
SNV Germline |
Chr2:224585255 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2E Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_928887003 |
2 SubmittersRCV001142162RCV003433029 |
NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg)
|
SNV Germline |
Chr12:894624 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_1395162926 |
2 SubmittersRCV001197784RCV001521461 |
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)
|
SNV Germline |
Chr12:868466 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_72649856 |
2 SubmittersRCV001208855RCV002436804 |
NM_213655.5(WNK1):c.3402T>G (p.Tyr1134Ter)
|
SNV Germline |
Chr12:868873 |
Pathogenic |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Single Submitter |
|
rs_1951905881 |
1 SubmittersRCV001228794 |
NM_213655.5(WNK1):c.2722G>T (p.Glu908Ter)
|
SNV Germline |
Chr12:868193 |
Pathogenic |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Single Submitter |
|
rs_1592096494 |
1 SubmittersRCV001239765 |
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)
|
SNV Germline |
Chr12:885854 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_770568108 |
2 SubmittersRCV001244183RCV002568578 |
NM_213655.5(WNK1):c.3633+1G>T
|
SNV Germline |
Chr12:869105 |
Likely pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_762015494 |
2 SubmittersRCV001225976RCV001333784RCV001336290 |
NM_003590.5(CUL3):c.641C>G (p.Ala214Gly)
|
SNV Germline |
Chr2:224513537 |
Pathogenic |
Pseudohypoaldosteronism type 2E |
Criteria Provided Single Submitter |
|
rs_1692920727 |
1 SubmittersRCV001253061 |
NM_018979.4(WNK1):c.4788A>G (p.Gln1596=)
|
SNV Germline |
Chr12:885592 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_371448826 |
2 SubmittersRCV001309742 |
NM_018979.4(WNK1):c.5325C>T (p.Ser1775=)
|
SNV Germline |
Chr12:887265 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_373370309 |
3 SubmittersRCV001366159RCV003394006 |
NM_213655.5(WNK1):c.2436C>A (p.Tyr812Ter)
|
SNV Germline |
Chr12:867907 |
Pathogenic |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Single Submitter |
|
rs_2154071377 |
1 SubmittersRCV001381962 |
NM_018979.4(WNK1):c.397G>A (p.Val133Ile)
|
SNV Germline |
Chr12:753962 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_753342253 |
2 SubmittersRCV001397924RCV002377600 |
NM_213655.5(WNK1):c.2201C>T (p.Pro734Leu)
|
SNV Germline |
Chr12:865171 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases WNK1-related disorder Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
|
rs_564717613 |
5 SubmittersRCV001415676RCV002432152RCV003965776RCV003156345RCV004526849 |
NM_018979.4(WNK1):c.5584-5A>G
|
SNV Germline |
Chr12:896066 |
Conflicting classifications of pathogenicity |
Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Conflicting Classifications |
|
rs_771801197 |
3 SubmittersRCV002368303RCV001417028 |
NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser)
|
SNV Germline |
Chr5:137639881 |
Likely pathogenic |
Pseudohypoaldosteronism type 2D |
Criteria Provided Single Submitter |
|
rs_2149885426 |
1 SubmittersRCV001533191 |
NM_032387.5(WNK4):c.506C>T (p.Pro169Leu)
|
SNV Germline |
Chr17:42781204 |
Pathogenic |
Pseudohypoaldosteronism type 2B |
No Assertion Criteria Provided |
|
rs_2143987485 |
1 SubmittersRCV001849665 |
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr)
|
SNV Germline |
Chr12:865203 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases Condition: not provided |
Criteria Provided Conflicting Classifications |
|
rs_763686798 |
4 SubmittersRCV001967093RCV002425353RCV003395328 |
NM_018979.4(WNK1):c.6448+2T>C
|
SNV Germline |
Chr12:897683 |
Likely pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
rs_2154096075 |
1 SubmittersRCV002050443 |
NM_018979.4(WNK1):c.2119G>A (p.Val707Ile)
|
SNV Germline |
Chr12:862250 |
Conflicting classifications of pathogenicity |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_761380468 |
2 SubmittersRCV001902015RCV004039824 |
NM_213655.5(WNK1):c.2464A>G (p.Ile822Val)
|
SNV Germline |
Chr12:867935 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_751787202 |
2 SubmittersRCV001912503RCV004041474 |
NM_213655.5(WNK1):c.3373C>T (p.Gln1125Ter)
|
SNV Germline |
Chr12:868844 |
Pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
rs_2154072180 |
1 SubmittersRCV001900804 |
NM_213655.5(WNK1):c.3535C>T (p.Gln1179Ter)
|
SNV Germline |
Chr12:869006 |
Pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
rs_1951918264 |
1 SubmittersRCV001994487 |
NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu)
|
SNV Germline |
Chr12:884934 |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A Inborn genetic diseases |
Criteria Provided Conflicting Classifications |
|
rs_574069625 |
2 SubmittersRCV002161609RCV002337385 |
NM_018979.4(WNK1):c.2266C>T (p.Gln756Ter)
|
SNV Germline |
Chr12:878254 |
Pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003084515 |
NM_018979.4(WNK1):c.1400+1G>A
|
SNV Germline |
Chr12:857250 |
Likely pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV002880923 |
NM_018979.4(WNK1):c.2140-2A>G
|
SNV Germline |
Chr12:871263 |
Likely pathogenic |
Pseudohypoaldosteronism type 2C Neuropathy, hereditary sensory and autonomic, type 2A |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV002872169 |
NM_018979.4(WNK1):c.3845-2A>G
|
SNV Germline |
Chr12:884647 |
Likely pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV002853072 |
NM_213655.5(WNK1):c.3209T>A (p.Leu1070Ter)
|
SNV Germline |
Chr12:868680 |
Pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003057806 |
NM_213655.5(WNK1):c.2140-1G>A
|
SNV Germline |
Chr12:865109 |
Likely pathogenic |
Neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoaldosteronism type 2C |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV003809704 |