WNK1 — 2292 ClinVar variants

All ClinVar germline WNK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 906 flagged for review →

53 Pathogenic · 1 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 95 Conflicting · 115 Benign · 55 Benign/Likely benign · 664 Likely benign · 1291 Uncertain significance

Full WNK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 906

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

WNK1 p.Asp635Glu Likely pathogenic Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln636Glu Likely pathogenic Single submitter
pseudohypoaldosteronism type 2C

Predictors agree, ClinVar conflicts 48

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

WNK1 p.Ala1233Val Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ala1608Val Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ala1696Thr Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala1880Thr Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala43Gly Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ala44Val Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Ala70Gly Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ala779Val Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Arg1312His Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Arg1957Cys Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asn1715Ser Conflicting Single submitter
WNK1-related disorder
WNK1 p.Gln756Glu Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Gly1462Arg Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly1771Val Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Gly1858Arg Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly2341Ser Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Gly612Ser Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ile1684Val Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ile1912Leu Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ile1914Thr Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ile801Val Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Lys1753Arg Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Met2320Val Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1690Ala Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1737Ala Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Pro1907Leu Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro193Gln Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Pro99Leu Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Pro99Ser Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1193Asn Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ser1511Asn Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser158Thr Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Ser1838Phe Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Ser289Pro Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Thr1063Ile Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Thr1098Ala Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr1379Ala Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Thr1496Ser Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Thr1730Ile Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr1831Ala Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Thr1951Ala Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Thr2166Ile Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Thr619Ala Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Thr904Ala Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Val133Ile Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Val1377Glu Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Val1905Glu Conflicting Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Val707Ile Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 6

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

WNK1 c.3633+1G>T Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 c.5448+1G>T Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg1267Ter Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Phe741fs Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr744fs Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Met214fs Conflicting No assertion criteria
Charcot-Marie-Tooth disease

Predictors lean, ClinVar uncertain 735

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 735

WNK1 p.Ala110Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala1352Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala140Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala1446Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala1455Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala1526Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala1526Val Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Ala1546Val Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ala1821Val Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ala1852Gly Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala190Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Ala2017Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala2017Val Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ala2211Pro Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala2224Ser Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ala2231Thr Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ala2308Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala2335Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala24Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala44Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala768Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg1182Gln Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Arg1269Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg1311Ile Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg1312Cys Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Arg2021Gly Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg2021Lys Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg2077Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg2078Gln Uncertain significance Multiple submitters
WNK1-related disorder
WNK1 p.Arg2267Lys Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg567Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asn1083Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asn1293Tyr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asn1609Ser Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Asn2378Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Asn89Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp1213Gly Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp1879Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Asp2089Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp2192Asn Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Asp535Tyr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln1221Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln135Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln1630Lys Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Gln1832His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln1834Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln199Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln592His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln743Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln778Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln895Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu1439Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu1776Lys Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Glu192Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu2000Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu983Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly1082Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Gly1205Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly1216Asp Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Gly1391Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly1565Ser Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Gly186Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly1873Ser Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Gly1911Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly2028Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly2266Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His1072Pro Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His1568Pro Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His1619Leu Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.His2031Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.His2031Tyr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His2034Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His2168Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His681Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His705Arg Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ile1416Thr Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ile1418Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ile1576Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ile1600Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Ile1600Val Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ile1684Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ile345Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu1170Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu1626Phe Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu171Phe Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Leu1768Arg Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Leu1804Val Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Leu2299Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu2299Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu783Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu98Phe Uncertain significance Multiple submitters
WNK1-related disorder
WNK1 p.Lys2039Glu Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Lys2318Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Lys26Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Lys590Arg Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Met2059Val Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Met2295Leu Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Phe1177Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Phe1981Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro105Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro1061Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro108Ala Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1331Ser Uncertain significance Multiple submitters
WNK1-related disorder
WNK1 p.Pro1331Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1363Arg Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Pro138Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1399Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro13Ser Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Pro1402Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro143Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro1467Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1469Ala Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro153Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1580Leu Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Pro1602Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro1606Ala Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro1611Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro1622Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1644Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1760Leu Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Pro1844Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1909Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro1940Ser Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Pro1979His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro21Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro2212Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro2235Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro25Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro607His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro886Ala Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro893Ala Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Pro947Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro947Thr Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ser1030Phe Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1088Phe Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser10Asn Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1105Cys Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser114Ile Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1176Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1197Ile Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ser1208Ile Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Ser1220Phe Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Ser131Cys Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ser1341Thr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1463Asn Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1510Asn Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1512Gly Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1528Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1559Asn Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1620Gly Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 115

The independent predictors disagree with each other — read with care.

WNK1 p.Arg2380Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg56Gly Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp1069His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp32Tyr Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Asp465His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp494Asn Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu492Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu578Gly Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Gly2376Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His77Pro Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ile509Thr Benign Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Lys2104Glu Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Lys63Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Phe2333Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro2329Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Pro2353His Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1443Tyr Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser167Cys Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1700Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WNK1 p.Ser2312Cys Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser33Phe Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser608Cys Uncertain significance Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr2199Ile Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Thr665Ile Benign Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Val1960Leu Uncertain significance Multiple submitters
pseudohypoaldosteronism type 2C
WNK1 p.Ala1254Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala2118Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala2287Thr Uncertain significance Single submitter
WNK1-related disorder
WNK1 p.Ala448Val Uncertain significance Single submitter
Inborn genetic diseases
WNK1 p.Ala499Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ala557Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg1109Ser Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Arg1111Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg121Trp Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Arg1257Gln Uncertain significance Single submitter
WNK1 p.Arg2080Leu Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Arg2123Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg2125Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg2126Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg2380Trp Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg530Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg572Gln Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg576Trp Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Arg668Pro Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Arg66Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asn1127Ile Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asn2378Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp1189Asn Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp1195Glu Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Asp1797Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp2192Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Asp2260Asn Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Cys2321Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln1614Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln2091His Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gln579His Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu1158Asp Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Glu578Lys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly1091Arg Uncertain significance Single submitter
Inborn genetic diseases
WNK1 p.Gly2142Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly2278Arg Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Gly660Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Gly67Arg Uncertain significance Single submitter
Inborn genetic diseases
WNK1 p.His1093Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.His1252Leu Uncertain significance Single submitter
WNK1 p.Ile2087Met Uncertain significance Single submitter
Inborn genetic diseases
WNK1 p.Ile2113Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ile2113Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ile85Met Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu1570Trp Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu1796Pro Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu2105Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Leu2120Phe Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Lys1954Glu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Lys2186Thr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Lys322Arg Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Lys63Asn Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Met1191Ile Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Met61Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Phe17Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Phe2362Cys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Phe2362Val Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro2119Leu Uncertain significance Single submitter
WNK1 p.Pro2374Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Pro632Ser Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Pro784Arg Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Ser1300Phe Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ser1411Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1411Cys Likely benign Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1438Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1443Cys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1525Cys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser1559Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser2056Phe Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Ser2092Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser2188Pro Uncertain significance Single submitter
Inborn genetic diseases
WNK1 p.Ser2208Arg Conflicting Single submitter
Inborn genetic diseases
WNK1 p.Ser2217Ile Uncertain significance Single submitter
WNK1 p.Ser2218Arg Uncertain significance Single submitter
WNK1 p.Ser2358Phe Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Ser30Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser31Cys Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser651Pro Uncertain significance Single submitter
pseudohypoaldosteronism type 2C
WNK1 p.Ser65Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser65Asn Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser661Tyr Uncertain significance Single submitter
Inborn genetic diseases
WNK1 p.Ser820Cys Conflicting Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr1098Arg Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr2128Ile Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr2381Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr2382Ser Uncertain significance Single submitter
WNK1 p.Thr553Ser Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Thr674Ile Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Val1948Leu Uncertain significance Single submitter
neuropathy, hereditary sensory and autonomic, type 2A
WNK1 p.Ser2138Arg Uncertain significance No assertion criteria
WNK1-related disorder

All WNK1 variants

Pathogenic 53

p.Arg1076Ter Multiple submitters Hereditary neuropathy or pain disorder
p.Asp1165Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Gln1101Ter Multiple submitters WNK1-related disorder
p.Gln974Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1093fs Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1176fs Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ala891_Ser892insTer Single submitter Inborn genetic diseases
p.Arg1000fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1111Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg2126Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Asn2143fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln1092Ter Single submitter Inborn genetic diseases
p.Gln1125Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln1179Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln761fs Single submitter pseudohypoaldosteronism type 2C
p.Gln816fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln966fs Single submitter Inborn genetic diseases
p.Glu908Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Glu984fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ile822fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Leu1070Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Leu1617fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1029fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1033fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1210fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Pro833fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1147fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ser775Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ser898_Cys899insTer Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1321fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1757fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Trp879Ter Single submitter pseudohypoaldosteronism type 2C
p.Tyr1110Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Tyr1134Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Tyr812Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Tyr913_Ser914delinsTer Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Val1030fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.759+12272_760-5774del No assertion criteria pseudohypoaldosteronism type 2C
p.Asp531fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Cys806fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Gln1150fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Gln859Ter No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Gln970Ter No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Gly1156fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Ile1141fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Leu1001Ter No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Lys1026Ter No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Phe1184fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1102fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Pro871fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1193fs No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Ser957Ter No assertion criteria neuropathy, hereditary sensory and autonomic, type 2A
p.Val1080fs No assertion criteria

Pathogenic/Likely pathogenic 1

p.Gln800Ter Multiple submitters pseudohypoaldosteronism type 2C

Likely pathogenic 18

p.Asp635Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
c.1400+1G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2140-2A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2374-2A>G Single submitter
c.2395-1G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2832+1G>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3845-2A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5365-1G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5510-2A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6448+2T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Asn956fs Single submitter WNK1-related disorder
p.Cys1506fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln584fs Single submitter pseudohypoaldosteronism type 2C
p.Gln636Glu Single submitter pseudohypoaldosteronism type 2C ⚠
p.Gln902fs Single submitter WNK1-related disorder
p.Gly293fs Single submitter
p.Tyr942Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln854Ter No assertion criteria pseudohypoaldosteronism type 2C

Conflicting classifications of pathogenicity 95

c.3112-6T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3633+1G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
c.5448+1G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
c.5584-5A>G Single submitter Inborn genetic diseases
p.Ala1034= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1036Val Single submitter Inborn genetic diseases
p.Ala1233Val Single submitter Inborn genetic diseases ⚠
p.Ala1608Val Single submitter Inborn genetic diseases ⚠
p.Ala1696Thr Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala1814= Single submitter pseudohypoaldosteronism type 2C
p.Ala1821= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1880Thr Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala42= Single submitter pseudohypoaldosteronism type 2C
p.Ala43Gly Single submitter Inborn genetic diseases ⚠
p.Ala44Val Single submitter pseudohypoaldosteronism type 2C ⚠
p.Ala70Gly Single submitter Inborn genetic diseases ⚠
p.Ala745Thr Single submitter pseudohypoaldosteronism type 2C
p.Ala779Val Single submitter pseudohypoaldosteronism type 2C ⚠
p.Ala781= Single submitter pseudohypoaldosteronism type 2C
p.Arg1267Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg1312His Single submitter Inborn genetic diseases ⚠
p.Arg1945Cys Single submitter pseudohypoaldosteronism type 2C
p.Arg1957Cys Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg2380Trp Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg66= Single submitter pseudohypoaldosteronism type 2C
p.Arg718Cys Single submitter Inborn genetic diseases
p.Arg787Gln Single submitter Inborn genetic diseases
p.Arg788Cys Single submitter Inborn genetic diseases
p.Arg845Cys Single submitter Inborn genetic diseases
p.Asn1715Ser Single submitter WNK1-related disorder ⚠
p.Asp915Glu Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln1596= Single submitter pseudohypoaldosteronism type 2C
p.Gln2336= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gln756Glu Single submitter Inborn genetic diseases ⚠
p.Glu206= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gly1124Glu Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Gly1462Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly1771Val Single submitter pseudohypoaldosteronism type 2C ⚠
p.Gly1858Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly2341Ser Single submitter pseudohypoaldosteronism type 2C ⚠
p.Gly612Ser Single submitter Inborn genetic diseases ⚠
p.Gly729= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ile1684Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ile1912Leu Single submitter Inborn genetic diseases ⚠
p.Ile1914Thr Single submitter Inborn genetic diseases ⚠
p.Ile801Val Single submitter pseudohypoaldosteronism type 2C ⚠
p.Ile822Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Leu2050= Single submitter pseudohypoaldosteronism type 2C
p.Leu869Ile Single submitter Inborn genetic diseases
p.Leu999Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Lys1753Arg Single submitter Inborn genetic diseases ⚠
p.Met2320Val Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Phe741fs Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1118= Single submitter pseudohypoaldosteronism type 2C
p.Pro1573= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1690Ala Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1737Ala Single submitter Inborn genetic diseases ⚠
p.Pro1907Leu Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro193Gln Single submitter pseudohypoaldosteronism type 2C ⚠
p.Pro734Leu Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Pro99Leu Single submitter pseudohypoaldosteronism type 2C ⚠
p.Pro99Ser Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1070= Single submitter Inborn genetic diseases
p.Ser1193Asn Single submitter Inborn genetic diseases ⚠
p.Ser1300Phe Single submitter Inborn genetic diseases ⚠
p.Ser1511Asn Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser158Thr Single submitter pseudohypoaldosteronism type 2C ⚠
p.Ser1775= Single submitter pseudohypoaldosteronism type 2C
p.Ser1838Phe Single submitter pseudohypoaldosteronism type 2C ⚠
p.Ser2208Arg Single submitter Inborn genetic diseases ⚠
p.Ser289Pro Single submitter Inborn genetic diseases ⚠
p.Ser423= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ser820Cys Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser88= Single submitter pseudohypoaldosteronism type 2C
p.Ser980Ile Single submitter Inborn genetic diseases
p.Thr1063Ile Single submitter Inborn genetic diseases ⚠
p.Thr1098Ala Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1368= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1379Ala Single submitter pseudohypoaldosteronism type 2C ⚠
p.Thr1496Ser Single submitter pseudohypoaldosteronism type 2C ⚠
p.Thr1730Ile Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1831Ala Single submitter Inborn genetic diseases ⚠
p.Thr1951Ala Single submitter pseudohypoaldosteronism type 2C ⚠
p.Thr2166Ile Single submitter pseudohypoaldosteronism type 2C ⚠
p.Thr358= Single submitter pseudohypoaldosteronism type 2C
p.Thr619Ala Single submitter Inborn genetic diseases ⚠
p.Thr744fs Single submitter Inborn genetic diseases ⚠
p.Thr904Ala Single submitter pseudohypoaldosteronism type 2C ⚠
p.Val1164= Single submitter pseudohypoaldosteronism type 2C
p.Val133Ile Single submitter Inborn genetic diseases ⚠
p.Val1377Glu Single submitter neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Val1610= Single submitter pseudohypoaldosteronism type 2C
p.Val1905Glu Single submitter pseudohypoaldosteronism type 2C ⚠
p.Val707Ile Single submitter Inborn genetic diseases ⚠
p.Met214fs No assertion criteria Charcot-Marie-Tooth disease ⚠

Benign 115

c.1153+40C>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.1312-119G>A Multiple submitters
c.1401-11C>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.1621-52G>T Multiple submitters
c.2373+21dup Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.2374-181C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.2833-48T>C Multiple submitters
c.3111+236C>A Multiple submitters
c.3209+54C>T Multiple submitters
c.3372+67G>A Multiple submitters
c.3489+4C>T Multiple submitters pseudohypoaldosteronism type 2C
c.3490-5T>A Multiple submitters pseudohypoaldosteronism type 2C
c.5280+128A>G Multiple submitters
c.5281-182A>T Multiple submitters
c.5281-30C>T Multiple submitters
c.5365-82A>T Multiple submitters
c.5449-121G>A Multiple submitters
c.5509+83A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.5583+36C>T Multiple submitters pseudohypoaldosteronism type 2C
c.5584-75T>C Multiple submitters
c.6644-103T>C Multiple submitters
c.759+16_759+18dup Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.759+27G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.-122C>T Multiple submitters pseudohypoaldosteronism type 2C
c.-203C>G Multiple submitters pseudohypoaldosteronism type 2C
c.-213G>T Multiple submitters pseudohypoaldosteronism type 2C
c.-452G>A Multiple submitters pseudohypoaldosteronism type 2C
c.-71G>A Multiple submitters pseudohypoaldosteronism type 2C
c.-91T>G Multiple submitters pseudohypoaldosteronism type 2C
c.*1034T>C Multiple submitters pseudohypoaldosteronism type 2C
c.*1342G>T Multiple submitters pseudohypoaldosteronism type 2C
c.*1986G>A Multiple submitters pseudohypoaldosteronism type 2C
c.*2308T>C Multiple submitters pseudohypoaldosteronism type 2C
c.*2413G>T Multiple submitters pseudohypoaldosteronism type 2C
p.Ala141Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Asn1320= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Asp493= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Cys1506Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Cys86= Multiple submitters pseudohypoaldosteronism type 2C
p.Gln1799= Multiple submitters pseudohypoaldosteronism type 2C
p.Gln776= Multiple submitters pseudohypoaldosteronism type 2C
p.Gln843= Multiple submitters pseudohypoaldosteronism type 2C
p.Ile509Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ile694Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ile726fs Multiple submitters pseudohypoaldosteronism type 2C
p.Leu504= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu772= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Met1808Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro756= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1056Pro Multiple submitters pseudohypoaldosteronism type 2C
p.Thr1348= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr665Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Tyr2276= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.1153+259TTG[8] Single submitter
c.1154-259T>A Single submitter
c.1311+154G>T Single submitter
c.1312-203T>C Single submitter
c.1312-230A>G Single submitter
c.1620+169_1620+170insGTGTGTGTGGT Single submitter
c.1620+169_1620+170insGTGTGTGTGTGG Single submitter
c.1620+169_1620+170insGTGTGTGTGTGGTT Single submitter
c.1620+169_1620+170insGTGTGTGTGTGTGTGGTT Single submitter
c.1621-10del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1621-74del Single submitter
c.1951+209A>T Single submitter
c.1952-259A>G Single submitter
c.2139+171G>A Single submitter
c.2139+2586A>G Single submitter
c.2139+2639C>T Single submitter
c.2139+2711dup Single submitter
c.2139+3351C>T Single submitter
c.2374-115del Single submitter
c.2374-116del Single submitter
c.2374-181C>A Single submitter
c.2374-181C>G Single submitter
c.2832+200A>G Single submitter
c.2832+227C>T Single submitter
c.2833-73del Single submitter
c.3372+122C>T Single submitter
c.3372+273G>A Single submitter
c.3372+314C>G Single submitter
c.3845-163T>G Single submitter
c.5280+49dup Single submitter
c.5364+201G>A Single submitter
c.5510-289C>T Single submitter
c.5583+177T>C Single submitter
c.5583+187T>G Single submitter
c.5584-142A>G Single submitter
c.6245+155CA[12] Single submitter
c.6245+155CA[13] Single submitter
c.6245+155CA[16] Single submitter
c.6245+155CA[20] Single submitter
c.6245+155CA[22] Single submitter
c.6245+226C>T Single submitter
c.6449-270G>A Single submitter
c.6644-131dup Single submitter
c.933-190_933-189del Single submitter
c.-159C>T Single submitter pseudohypoaldosteronism type 2C
c.-23C>T Single submitter pseudohypoaldosteronism type 2C
c.-34C>T Single submitter pseudohypoaldosteronism type 2C
c.-598C>G Single submitter pseudohypoaldosteronism type 2C
c.*1145C>T Single submitter pseudohypoaldosteronism type 2C
c.*1146G>A Single submitter pseudohypoaldosteronism type 2C
c.*1517T>C Single submitter pseudohypoaldosteronism type 2C
c.*1764G>T Single submitter pseudohypoaldosteronism type 2C
c.*1937C>G Single submitter pseudohypoaldosteronism type 2C
c.*2007C>T Single submitter pseudohypoaldosteronism type 2C
c.*2236T>C Single submitter pseudohypoaldosteronism type 2C
c.*2474A>G Single submitter pseudohypoaldosteronism type 2C
c.*2583C>T Single submitter pseudohypoaldosteronism type 2C
c.*409C>T Single submitter pseudohypoaldosteronism type 2C
c.*47C>G Single submitter pseudohypoaldosteronism type 2C
c.*531C>T Single submitter pseudohypoaldosteronism type 2C
c.*758C>G Single submitter pseudohypoaldosteronism type 2C
p.Ser2297= Single submitter neuropathy, hereditary sensory and autonomic, type 2A

Benign/Likely benign 55

c.1154-16G>A Multiple submitters pseudohypoaldosteronism type 2C
c.2373+20_2373+21dup Multiple submitters
c.3112-10C>T Multiple submitters pseudohypoaldosteronism type 2C
c.3489+17A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.3490-4A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.3664-15T>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.5281-4G>A Multiple submitters Inborn genetic diseases
c.5583+16T>G Multiple submitters pseudohypoaldosteronism type 2C
c.5583+3A>G Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.6643+18A>G Multiple submitters pseudohypoaldosteronism type 2C
c.759+15A>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.-25C>G Multiple submitters pseudohypoaldosteronism type 2C
c.-328C>G Multiple submitters pseudohypoaldosteronism type 2C
c.*277A>T Multiple submitters pseudohypoaldosteronism type 2C
p.Ala1233= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1287Ser Multiple submitters Inborn genetic diseases
p.Ala149Val Multiple submitters pseudohypoaldosteronism type 2C
p.Ala684= Multiple submitters pseudohypoaldosteronism type 2C
p.Asn965= Multiple submitters pseudohypoaldosteronism type 2C
p.Asp1867= Multiple submitters Inborn genetic diseases
p.Asp2201= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Gln1832= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Glu1194= Multiple submitters Inborn genetic diseases
p.Glu1997= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Glu924= Multiple submitters pseudohypoaldosteronism type 2C
p.Gly1858= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Gly228= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ile1172Met Multiple submitters Inborn genetic diseases
p.Ile1424Val Multiple submitters Inborn genetic diseases
p.Ile736Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu1762= Multiple submitters pseudohypoaldosteronism type 2C
p.Leu730Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu887= Multiple submitters pseudohypoaldosteronism type 2C
p.Met1007Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1006Ser Multiple submitters pseudohypoaldosteronism type 2C
p.Pro1823Leu Multiple submitters pseudohypoaldosteronism type 2C
p.Pro1990Ser Multiple submitters pseudohypoaldosteronism type 2C
p.Pro757Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro830= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro886= Multiple submitters pseudohypoaldosteronism type 2C
p.Ser1218= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1536del Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1661= Multiple submitters pseudohypoaldosteronism type 2C
p.Ser1667= Multiple submitters pseudohypoaldosteronism type 2C
p.Ser2011Tyr Multiple submitters Inborn genetic diseases
p.Ser719Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1452Ala Multiple submitters pseudohypoaldosteronism type 2C
p.Thr1827= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1831= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1848_Ser1850del Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr674Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr764Ala Multiple submitters Inborn genetic diseases
p.Val1522Met Multiple submitters Inborn genetic diseases
p.Val724= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Val888= Multiple submitters pseudohypoaldosteronism type 2C

Likely benign 664

Showing the top 300 by review status; the full set is in the sitemap.

c.1400+15T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.1401-7T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.1952-18G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.2139+7A>G Multiple submitters pseudohypoaldosteronism type 2C
c.2224-16T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.2373+18_2373+19insC Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.3209+12T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.3210-18T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.3210-4A>G Multiple submitters Inborn genetic diseases
c.3490-18A>G Multiple submitters pseudohypoaldosteronism type 2C
c.3663+8C>G Multiple submitters pseudohypoaldosteronism type 2C
c.3722-25C>T Multiple submitters
c.3722-4C>A Multiple submitters pseudohypoaldosteronism type 2C
c.3844+42G>T Multiple submitters
c.3845-14G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.5449-14dup Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.5509+166G>A Multiple submitters
c.5510-13G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.6246-276A>G Multiple submitters
c.6246-36A>T Multiple submitters
c.6246-52C>T Multiple submitters
c.6448+77A>G Multiple submitters
c.6643+11A>G Multiple submitters pseudohypoaldosteronism type 2C
c.6643+136G>A Multiple submitters
c.6643+13C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.6643+79G>C Multiple submitters
c.6831+18C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.6831+19G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.6832-124C>G Multiple submitters
c.6832-22C>T Multiple submitters
c.933-20G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1036= Multiple submitters pseudohypoaldosteronism type 2C
p.Ala1460= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1696= Multiple submitters pseudohypoaldosteronism type 2C
p.Ala2016= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ala70= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ala765= Multiple submitters pseudohypoaldosteronism type 2C
p.Ala803= Multiple submitters Inborn genetic diseases
p.Ala884= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg164Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg2021= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg255= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg348= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg434= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Asn2373= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Asp1130= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Asp64= Multiple submitters pseudohypoaldosteronism type 2C
p.Gln1072= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Gln592= Multiple submitters pseudohypoaldosteronism type 2C
p.Gln756= Multiple submitters pseudohypoaldosteronism type 2C
p.Glu1199= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Glu1637= Multiple submitters pseudohypoaldosteronism type 2C
p.Glu1656= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Glu226Val Multiple submitters Inborn genetic diseases
p.Glu773= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Gly1067= Multiple submitters pseudohypoaldosteronism type 2C
p.Gly2272= Multiple submitters pseudohypoaldosteronism type 2C
p.Gly230= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Gly36= Multiple submitters pseudohypoaldosteronism type 2C
p.Ile1649= Multiple submitters pseudohypoaldosteronism type 2C
p.Ile1914= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ile901Leu Multiple submitters pseudohypoaldosteronism type 2C
p.Leu1089= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu16= Multiple submitters pseudohypoaldosteronism type 2C
p.Leu2007= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu2041= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu2291= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu502= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Leu976= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Lys2039= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Lys295= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Phe478= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1806= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1909= Multiple submitters pseudohypoaldosteronism type 2C
p.Pro1922= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro2010= Multiple submitters pseudohypoaldosteronism type 2C
p.Pro533= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro734= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro805= Multiple submitters pseudohypoaldosteronism type 2C
p.Pro837= Multiple submitters pseudohypoaldosteronism type 2C
p.Pro981= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1302= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser15= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1525= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1545= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser174= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1899= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser2= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser2032= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser2040= Multiple submitters pseudohypoaldosteronism type 2C
p.Ser2176= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser2208= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser30= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser31= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser661= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser753= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1056= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1707= Multiple submitters pseudohypoaldosteronism type 2C
p.Thr2199= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr2340= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr290= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr744= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Tyr1560= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Tyr422= Multiple submitters pseudohypoaldosteronism type 2C
p.Val1120Leu Multiple submitters Inborn genetic diseases
c.1153+10A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1153+17C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1153+18C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1154-13C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1311+12C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1311+7C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1312-12T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1400+12C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1400+20C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1401-149C>T Single submitter
c.1401-9G>C Single submitter pseudohypoaldosteronism type 2C
c.1620+105T>C Single submitter
c.1620+10C>T Single submitter
c.1620+169_1620+170insGTGTGTGTGTGTGG Single submitter
c.1620+169_1620+170insGTGTGTGTGTGTGGTT Single submitter
c.1620+17C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1620+257del Single submitter
c.1621-10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1621-11T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1621-16C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1621-200C>T Single submitter
c.1621-231C>T Single submitter
c.1621-29A>G Single submitter
c.1621-75_1621-74del Single submitter
c.1951+16A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1951+16A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1952-19C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.1952-7C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+11G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+2825T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+2826T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+2832G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+2832G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+2833T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+2834G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+2836T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+3110C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2139+3331G>A Single submitter
c.2140-3405A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2140-3407T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2140-3414T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2140-3416T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2140-4T>C Single submitter pseudohypoaldosteronism type 2C
c.2223+273G>T Single submitter
c.2224-18A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.2373+20_2373+21del Single submitter
c.2373+21del Single submitter
c.3112-16T>C Single submitter pseudohypoaldosteronism type 2C
c.3112-30C>T Single submitter
c.3112-9G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3209+11C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3209+13A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3209+14G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3209+8A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3210-10A>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3372+12del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3372+142del Single submitter
c.3372+19T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3373-8C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3373-8C>G Single submitter pseudohypoaldosteronism type 2C
c.3489+9G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3490-13A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3490-7T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3663+18A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3664-11G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3664-14T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3722-4C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3844+10T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3844+11G>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3844+17G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3844+20A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3844+7G>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.3845-20C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5280+14T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5280+7T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5280+9_5280+11del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5280+9A>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5281-18T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5281-19T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5281-271G>A Single submitter
c.5364+18A>C Single submitter pseudohypoaldosteronism type 2C
c.5364+19A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5364+20A>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5364+236del Single submitter
c.5365-8T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5448+17T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5448+183T>G Single submitter
c.5449-13G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5449-9G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5509+13C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5509+17C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5509+17del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5509+20C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5510-11dup Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5510-191G>A Single submitter
c.5510-20C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5510-307A>G Single submitter
c.5510-7_5510-4del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5583+11C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.5583+17G>A Single submitter
c.5583+233C>T Single submitter
c.5583+283G>A Single submitter
c.5584-13C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6245+155CA[23] Single submitter
c.6245+197_6245+198insG Single submitter
c.6245+197_6245+208del Single submitter
c.6245+199_6245+207del Single submitter
c.6245+20T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6245+7A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6245+9A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6448+38A>G Single submitter
c.6448+7del Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6643+14C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6643+16T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6643+952C>T Single submitter
c.6643+974T>G Single submitter
c.6644-10C>T Single submitter pseudohypoaldosteronism type 2C
c.6644-15T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6644-19A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6831+13T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6831+14T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6831+19G>T Single submitter
c.6831+6TC[2] Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6831+7C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6831+7C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6831+9C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6832-14G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6832-19G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6832-20C>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.6832-8G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.759+15A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.759+19T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.759+20A>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.759+20A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.759+3_759+6dup Single submitter pseudohypoaldosteronism type 2C
c.932+11C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.932+12A>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.932+19C>G Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.932+7T>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.933-11G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.933-12T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.933-18A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.933-20G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2A
c.-514C>T Single submitter pseudohypoaldosteronism type 2C
c.*24A>G Single submitter pseudohypoaldosteronism type 2C
c.*50A>G Single submitter
p.Ala1052= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1199= Single submitter pseudohypoaldosteronism type 2C
p.Ala1284= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1298= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala134= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1350= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1354= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala141= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala147= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala149= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala152= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1526= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1541= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1722= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1869= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1977= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1991Ser Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala211= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala2197= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala2230= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala2258= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala2310= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala428= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala429= Single submitter pseudohypoaldosteronism type 2C
p.Ala46= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala609= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala69= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala735= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala771= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala810= Single submitter
p.Ala883= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala932= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Ala944= Single submitter pseudohypoaldosteronism type 2C
p.Ala947= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1000= Single submitter pseudohypoaldosteronism type 2C
p.Arg1078= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1100= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1117= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1131= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1142= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg121= Single submitter pseudohypoaldosteronism type 2C
p.Arg1859= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg2259= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg2283= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg461= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg561= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg572= Single submitter pseudohypoaldosteronism type 2C
p.Arg58= Single submitter neuropathy, hereditary sensory and autonomic, type 2A
p.Arg668= Single submitter neuropathy, hereditary sensory and autonomic, type 2A

Uncertain significance 1291

Showing the top 300 by review status; the full set is in the sitemap.

c.1620+4A>C Multiple submitters Inborn genetic diseases
c.1621-3T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.2140-3403dup Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.2373+4A>C Multiple submitters Inborn genetic diseases
c.3209+4C>T Multiple submitters pseudohypoaldosteronism type 2C
c.3372+3A>G Multiple submitters Inborn genetic diseases
c.3663+3A>G Multiple submitters pseudohypoaldosteronism type 2C
c.3845-3C>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.5448+2dup Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
c.5448+5G>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ala1022Gly Multiple submitters pseudohypoaldosteronism type 2C
p.Ala110Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala1352Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala140Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala1446Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala1455Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala1526Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala1526Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1546Val Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ala1821Val Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ala1852Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala190Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala2017Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala2017Val Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ala2211Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala2224Ser Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ala2231Thr Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ala2308Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala2335Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala24Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala44Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala735Thr Multiple submitters Inborn genetic diseases
p.Ala768Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ala803Val Multiple submitters pseudohypoaldosteronism type 2C
p.Ala944Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1024Cys Multiple submitters Inborn genetic diseases
p.Arg1024His Multiple submitters Inborn genetic diseases
p.Arg1073His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1078Trp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1109His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg1182Gln Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Arg1269Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg1311Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg1312Cys Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Arg1957His Multiple submitters Inborn genetic diseases
p.Arg2021Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg2021Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg2077Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg2078Gln Multiple submitters WNK1-related disorder ⚠
p.Arg2093His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg2137Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg2267Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg2380Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg567Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg56Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Arg715Cys Multiple submitters Inborn genetic diseases
p.Arg716Cys Multiple submitters pseudohypoaldosteronism type 2C
p.Arg716His Multiple submitters pseudohypoaldosteronism type 2C
p.Arg784Cys Multiple submitters Inborn genetic diseases
p.Arg784His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg787Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg788His Multiple submitters Inborn genetic diseases
p.Arg825Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg825His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg844Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg893Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Arg945Gln Multiple submitters Inborn genetic diseases
p.Arg945Trp Multiple submitters Inborn genetic diseases
p.Asn1083Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asn1293Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asn1609Ser Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Asn2378Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn89Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asp1069His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asp1137Tyr Multiple submitters Inborn genetic diseases
p.Asp1213Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asp1879Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp2089Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asp2192Asn Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Asp32Tyr Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Asp465His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asp494Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Asp535Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Cys1050Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Cys749Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Gln1194Pro Multiple submitters Inborn genetic diseases
p.Gln1221Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln135Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln1630Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln1832His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln1834Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln199Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln592His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln743Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln778Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln843His Multiple submitters pseudohypoaldosteronism type 2C
p.Gln895Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gln949Arg Multiple submitters Inborn genetic diseases
p.Gln989Arg Multiple submitters pseudohypoaldosteronism type 2C
p.Gln997Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Glu1088del Multiple submitters pseudohypoaldosteronism type 2C
p.Glu1439Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Glu1776Lys Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Glu192Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Glu2000Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Glu492Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Glu578Gly Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Glu761Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Glu925Ala Multiple submitters Inborn genetic diseases
p.Glu983Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly1082Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1098Asp Multiple submitters pseudohypoaldosteronism type 2C
p.Gly1124Arg Multiple submitters Inborn genetic diseases
p.Gly1205Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly1216Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly1391Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly1565Ser Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Gly186Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly1873Ser Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Gly1911Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly2028Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly2266Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly2376Asp Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Gly976Ser Multiple submitters pseudohypoaldosteronism type 2C
p.His1072Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.His1112Arg Multiple submitters Inborn genetic diseases
p.His1568Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.His1619Leu Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.His2031Arg Multiple submitters Inborn genetic diseases ⚠
p.His2031Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.His2034Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.His2168Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.His681Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.His705Arg Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.His77Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.His786Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.His856Gln Multiple submitters pseudohypoaldosteronism type 2C
p.His904_Val912del Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ile1123Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ile1416Thr Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ile1418Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ile1576Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ile1600Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1600Val Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ile1684Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ile345Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Leu1170Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Leu1208Pro Multiple submitters Inborn genetic diseases
p.Leu1626Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Leu171Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1768Arg Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Leu1804Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1895Pro Multiple submitters pseudohypoaldosteronism type 2C
p.Leu2299Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Leu2299Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Leu2367fs Multiple submitters Inborn genetic diseases
p.Leu783Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Leu794Phe Multiple submitters pseudohypoaldosteronism type 2C
p.Leu869Arg Multiple submitters pseudohypoaldosteronism type 2C
p.Leu870Ile Multiple submitters Inborn genetic diseases
p.Leu98Phe Multiple submitters WNK1-related disorder ⚠
p.Lys2039Glu Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Lys2104Glu Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Lys2318Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Lys26Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Lys590Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Lys63Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Lys785Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Met2059Val Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Met2295Leu Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Met720Val Multiple submitters pseudohypoaldosteronism type 2C
p.Met778Val Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Met964Val Multiple submitters pseudohypoaldosteronism type 2C
p.Phe1177Cys Multiple submitters Inborn genetic diseases ⚠
p.Phe1981Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Phe2333Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Phe764Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro1007Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro105Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1061Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro108Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1122Ser Multiple submitters Inborn genetic diseases
p.Pro1331Ser Multiple submitters WNK1-related disorder ⚠
p.Pro1331Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1363Arg Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Pro138Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1399Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro13Ser Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Pro1402Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro143Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1467Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1469Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro153Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1580Leu Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Pro1602Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1606Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro1611Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1622Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1644Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1760Leu Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Pro1844Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1909Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro1940Ser Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Pro1979His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro21Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro2212Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro2235Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro2329Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro2353His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro25Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro607His Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro738fs Multiple submitters Inborn genetic diseases
p.Pro760Ser Multiple submitters pseudohypoaldosteronism type 2C
p.Pro777fs Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro805Leu Multiple submitters Inborn genetic diseases
p.Pro805Ser Multiple submitters Inborn genetic diseases
p.Pro871Ser Multiple submitters Inborn genetic diseases
p.Pro886Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro893Ala Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Pro923Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Pro947Gln Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Pro947Thr Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Pro986Arg Multiple submitters pseudohypoaldosteronism type 2C
p.Ser1015Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1030Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1088Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser10Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1105Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1139Pro Multiple submitters pseudohypoaldosteronism type 2C
p.Ser114Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1151Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1176Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1193Phe Multiple submitters Inborn genetic diseases
p.Ser1197Ile Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ser1208Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser1220Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1295Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser131Cys Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ser1341Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1443Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1463Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1510Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1512Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1528Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1559Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1620Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser1668Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser167Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1686Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1700Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser174Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1849Asn Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Ser1890Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1892Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser1898Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1978Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser1978Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser2032Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser2037Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser2051Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser2136Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser2312Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser2365fs Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ser289Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser33Phe Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser563Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser596Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser597Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser608Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser610Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser702Tyr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser718Asn Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Ser721Leu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Ter2383Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1116Asn Multiple submitters pseudohypoaldosteronism type 2C
p.Thr1192Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr1348Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1353Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1494Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1495Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr155Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr1589Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1706Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1726Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1772Pro Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1827Ile Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1831Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr1913Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr2199Ile Multiple submitters pseudohypoaldosteronism type 2C ⚠
p.Thr2221Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr2239Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr2340Met Multiple submitters Inborn genetic diseases ⚠
p.Thr665Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr73Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr821Ala Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Thr853Met Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr856Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
p.Thr875= Multiple submitters pseudohypoaldosteronism type 2C
p.Thr895Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A
p.Tyr916Cys Multiple submitters pseudohypoaldosteronism type 2C