"Ambry Genetics"[submitter] AND "WNK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1747157	NM_018979.4(WNK1):c.11G>T (p.Gly4Val)	WNK1 (G4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441656	NM_018979.4(WNK1):c.29G>A (p.Ser10Asn)	WNK1 (S10N)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1003816	NM_018979.4(WNK1):c.37C>T (p.Pro13Ser)	WNK1 (P13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3190614	NM_018979.4(WNK1):c.47T>A (p.Leu16Gln)	WNK1 (L16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1358606	NM_018979.4(WNK1):c.62C>T (p.Pro21Leu)	WNK1 (P21L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1760196	NM_018979.4(WNK1):c.76A>G (p.Lys26Glu)	WNK1 (K26E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1768546	NM_018979.4(WNK1):c.98C>T (p.Ser33Phe)	WNK1 (S33F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 565458	NM_018979.4(WNK1):c.128C>G (p.Ala43Gly)	WNK1 (A43G)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GConflicting classifications of pathogenicity
Select item 934320	NM_018979.4(WNK1):c.187A>C (p.Lys63Gln)	WNK1 (K63Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1784138	NM_018979.4(WNK1):c.199G>A (p.Gly67Arg)	WNK1 (G67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 882585	NM_018979.4(WNK1):c.209C>G (p.Ala70Gly)	WNK1 (A70G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 538505	NM_018979.4(WNK1):c.314C>G (p.Pro105Arg)	WNK1 (P105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1730878	NM_018979.4(WNK1):c.338A>G (p.Gln113Arg)	WNK1 (Q113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1731716	NM_018979.4(WNK1):c.346C>T (p.Pro116Ser)	WNK1 (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1081822	NM_018979.4(WNK1):c.397G>A (p.Val133Ile)	WNK1 (V133I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 1430784	NM_018979.4(WNK1):c.428C>G (p.Pro143Arg)	WNK1 (P143R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1741021	NM_018979.4(WNK1):c.449G>C (p.Gly150Ala)	WNK1 (G150A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 834893	NM_018979.4(WNK1):c.464C>A (p.Thr155Asn)	WNK1 (T155N)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 848039	NM_018979.4(WNK1):c.473G>C (p.Ser158Thr)	WNK1 (S158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1745027	NM_018979.4(WNK1):c.504G>T (p.Gln168His)	WNK1 (Q168H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 568137	NM_018979.4(WNK1):c.511C>T (p.Leu171Phe)	WNK1 (L171F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 655838	NM_018979.4(WNK1):c.568G>A (p.Ala190Thr)	WNK1 (A190T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 310545	NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)	WNK1 (P193Q)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +3 more	GConflicting classifications of pathogenicity
Select item 538536	NM_018979.4(WNK1):c.677A>T (p.Glu226Val)	WNK1 (E226V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GLikely benign
Select item 570453	NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)	WNK1 (S289P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1357940	NM_018979.4(WNK1):c.866C>T (p.Ser289Phe)	WNK1 (S289F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1759378	NM_018979.4(WNK1):c.1245G>A (p.Met415Ile)	WNK1 (M415I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770408	NM_018979.4(WNK1):c.1343C>T (p.Ala448Val)	WNK1 (A448V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 962320	NM_018979.4(WNK1):c.1603G>T (p.Asp535Tyr)	WNK1 (D535Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1039723	NM_018979.4(WNK1):c.1606G>C (p.Val536Leu)	WNK1 (V536L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1056322	NM_018979.4(WNK1):c.1620+4A>C	WNK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3190612	NM_018979.4(WNK1):c.1688C>T (p.Ser563Leu)	WNK1 (S563L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779022	NM_018979.4(WNK1):c.1733A>G (p.Glu578Gly)	WNK1 (E578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779329	NM_018979.4(WNK1):c.1748del (p.Lys583fs)	WNK1 (K583fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely benign
Select item 574105	NM_018979.4(WNK1):c.1787C>T (p.Ser596Phe)	WNK1 (S596F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 310739	NM_018979.4(WNK1):c.1790G>A (p.Ser597Asn)	WNK1 (S597N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 310740	NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)	WNK1 (G612S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +3 more	GConflicting classifications of pathogenicity
Select item 310741	NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)	WNK1 (T619A)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +3 more	GConflicting classifications of pathogenicity
Select item 1783831	NM_018979.4(WNK1):c.1982C>A (p.Ser661Tyr)	WNK1 (S661Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431923	NM_018979.4(WNK1):c.2043T>G (p.His681Gln)	WNK1 (H681Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 538507	NM_018979.4(WNK1):c.2092G>A (p.Val698Ile)	WNK1 (V698I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 538520	NM_018979.4(WNK1):c.2105C>A (p.Ser702Tyr)	WNK1 (S702Y)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 1786151	NM_018979.4(WNK1):c.2114A>G (p.His705Arg)	WNK1 (H705R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1362976	NM_018979.4(WNK1):c.2119G>A (p.Val707Ile)	WNK1 (V707I)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 1014203	NM_213655.5(WNK1):c.2143C>T (p.Arg715Cys)	WNK1 (R715C)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +3 more	GUncertain significance
Select item 664425	NM_213655.5(WNK1):c.2146C>T (p.Arg716Cys)	WNK1 (R716C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 191028	NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys)	WNK1 (R718C)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +3 more	GConflicting classifications of pathogenicity
Select item 1027162	NM_213655.5(WNK1):c.2164G>T (p.Val722Phe)	WNK1 (V722F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 641047	NM_213655.5(WNK1):c.2172dup (p.Pro725fs)	WNK1 (P725fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1094977	NM_213655.5(WNK1):c.2201C>T (p.Pro734Leu)	WNK1 (P734L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 654073	NM_213655.5(WNK1):c.2203G>A (p.Ala735Thr)	WNK1 (A735T)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1787798	NM_213655.5(WNK1):c.2213del (p.Pro738fs)	WNK1 (P738fs)	Deletion (frameshift variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1787828	NM_213655.5(WNK1):c.2215G>A (p.Val739Met)	WNK1 (V739M)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1060396	NM_213655.5(WNK1):c.2228_2229dup (p.Thr744fs)	WNK1 (T744fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1472148	NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr)	WNK1 (A745T)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 1039814	NM_213655.5(WNK1):c.2245T>C (p.Cys749Arg)	WNK1 (C749R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1788706	NM_213655.5(WNK1):c.2266C>T (p.Pro756Ser)	WNK1 (P756S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1788734	NM_213655.5(WNK1):c.2269C>T (p.Pro757Ser)	WNK1 (P757S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1164398	NM_213655.5(WNK1):c.2270C>T (p.Pro757Leu)	WNK1 (P757L)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GBenign/Likely benign
Select item 838054	NM_213655.5(WNK1):c.2278C>T (p.Pro760Ser)	WNK1 (P760S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1037333	NM_213655.5(WNK1):c.2332A>G (p.Met778Val)	WNK1 (M778V)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 934626	NM_213655.5(WNK1):c.2350C>T (p.Arg784Cys)	WNK1 (R784C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1496971	NM_213655.5(WNK1):c.2358C>G (p.His786Gln)	WNK1 (H786Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 848487	NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln)	WNK1 (R787Q)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +3 more	GConflicting classifications of pathogenicity
Select item 424999	NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys)	WNK1 (R788C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 838811	NM_213655.5(WNK1):c.2363G>A (p.Arg788His)	WNK1 (R788H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 842708	NM_213655.5(WNK1):c.2380C>T (p.Leu794Phe)	WNK1 (L794F)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 1114093	NM_213655.5(WNK1):c.2409G>A (p.Ala803=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GLikely benign
Select item 1790915	NM_213655.5(WNK1):c.2413C>T (p.Pro805Ser)	WNK1 (P720S +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1367556	NM_213655.5(WNK1):c.2414C>T (p.Pro805Leu)	WNK1 (P720L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1791016	NM_213655.5(WNK1):c.2420G>A (p.Gly807Glu)	WNK1 (G722E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 971466	NM_213655.5(WNK1):c.2461A>G (p.Thr821Ala)	WNK1 (T736A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1393159	NM_213655.5(WNK1):c.2464A>G (p.Ile822Val)	WNK1 (I737V +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GConflicting classifications of pathogenicity
Select item 2319646	NM_213655.5(WNK1):c.2474G>A (p.Arg825His)	WNK1 (R740H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792635	NM_213655.5(WNK1):c.2529G>C (p.Gln843His)	WNK1 (Q758H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 657997	NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys)	WNK1 (R760C +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 245939	NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)	WNK1 (L869I +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 1793735	NM_213655.5(WNK1):c.2606T>G (p.Leu869Arg)	WNK1 (L784R +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 373468	NM_213655.5(WNK1):c.2608C>A (p.Leu870Ile)	WNK1 (L870I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1384383	NM_213655.5(WNK1):c.2611C>T (p.Pro871Ser)	WNK1 (P871S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 847450	NM_213655.5(WNK1):c.2650G>A (p.Val884Ile)	WNK1 (V884I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1794351	NM_213655.5(WNK1):c.2653G>C (p.Val885Leu)	WNK1 (V885L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 860137	NM_213655.5(WNK1):c.2653G>T (p.Val885Phe)	WNK1 (V800F +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +3 more	GUncertain significance
Select item 510731	NM_213655.5(WNK1):c.2659T>C (p.Leu887=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1794570	NM_213655.5(WNK1):c.2673_2674del (p.Ala891_Ser892insTer)	WNK1	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1133415	NM_213655.5(WNK1):c.2701A>T (p.Ile901Leu)	WNK1 (I816L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1794971	NM_213655.5(WNK1):c.2705A>G (p.Gln902Arg)	WNK1 (Q817R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795240	NM_213655.5(WNK1):c.2726C>T (p.Pro909Leu)	WNK1 (P824L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1004928	NM_213655.5(WNK1):c.2747A>G (p.Tyr916Cys)	WNK1 (Y831C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 647626	NM_213655.5(WNK1):c.2774A>C (p.Glu925Ala)	WNK1 (E840A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 856872	NM_213655.5(WNK1):c.2831C>T (p.Ala944Val)	WNK1 (A859V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 393031	NM_213655.5(WNK1):c.2833C>T (p.Arg945Trp)	WNK1 (R945W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 968032	NM_213655.5(WNK1):c.2834G>A (p.Arg945Gln)	WNK1 (R945Q +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 1796770	NM_213655.5(WNK1):c.2846A>G (p.Gln949Arg)	WNK1 (Q864R +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1797105	NM_213655.5(WNK1):c.2876T>C (p.Val959Ala)	WNK1 (V874A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1001031	NM_213655.5(WNK1):c.2890A>G (p.Met964Val)	WNK1 (M879V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 973154	NM_213655.5(WNK1):c.2898_2899del (p.Gln966fs)	WNK1 (Q966fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1501994	NM_213655.5(WNK1):c.2926G>A (p.Gly976Ser)	WNK1 (G891S +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 811389	NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)	WNK1 (S895I +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +4 more	GConflicting classifications of pathogenicity
Select item 1798116	NM_213655.5(WNK1):c.2957C>G (p.Pro986Arg)	WNK1 (P986R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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