"Fulgent Genetics, Fulgent Genetics"[submitter] AND "WNK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1156271	NM_018979.4(WNK1):c.48G>T (p.Leu16=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 538500	NM_018979.4(WNK1):c.74C>T (p.Pro25Leu)	WNK1 (P25L)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1017219	NM_018979.4(WNK1):c.94G>T (p.Asp32Tyr)	WNK1 (D32Y)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 618496	NM_018979.4(WNK1):c.130G>A (p.Ala44Thr)	WNK1 (A44T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 861445	NM_018979.4(WNK1):c.131C>T (p.Ala44Val)	WNK1 (A44V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 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 471170	NM_018979.4(WNK1):c.192C>T (p.Asp64=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1023628	NM_018979.4(WNK1):c.392C>G (p.Ser131Cys)	WNK1 (S131C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1420063	NM_018979.4(WNK1):c.404A>G (p.Gln135Arg)	WNK1 (Q135R)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 471186	NM_018979.4(WNK1):c.413C>T (p.Pro138Leu)	WNK1 (P138L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 648355	NM_018979.4(WNK1):c.418G>A (p.Ala140Thr)	WNK1 (A140T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
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 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 702779	NM_018979.4(WNK1):c.490C>T (p.Arg164Cys)	WNK1 (R164C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1433433	NM_018979.4(WNK1):c.521G>A (p.Ser174Asn)	WNK1 (S174N)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1588175	NM_018979.4(WNK1):c.522C>T (p.Ser174=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
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 1386115	NM_018979.4(WNK1):c.576G>C (p.Glu192Asp)	WNK1 (E192D)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 471202	NM_018979.4(WNK1):c.595C>G (p.Gln199Glu)	WNK1 (Q199E)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
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 310546	NM_018979.4(WNK1):c.684C>T (p.Gly228=)	WNK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 310547	NM_018979.4(WNK1):c.759+16_759+18dup	WNK1	Duplication (intron variant)	Pseudohypoaldosteronism type 2C +4 more	GBenign
Select item 137928	NM_018979.4(WNK1):c.759+15A>C	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign/Likely 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 310670	NM_018979.4(WNK1):c.915G>A (p.Thr305=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign/Likely benign
Select item 705960	NM_018979.4(WNK1):c.1044C>T (p.Arg348=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GLikely benign
Select item 1578683	NM_018979.4(WNK1):c.1154-16G>A	WNK1	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2C +2 more	GBenign/Likely benign
Select item 538515	NM_018979.4(WNK1):c.1269G>A (p.Ser423=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GConflicting classifications of pathogenicity
Select item 1626922	NM_018979.4(WNK1):c.1400+15T>C	WNK1	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 538544	NM_018979.4(WNK1):c.1401-7T>C	WNK1	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 938325	NM_018979.4(WNK1):c.1476A>T (p.Glu492Asp)	WNK1 (E492D)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 310738	NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr)	WNK1 (I509T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 641282	NM_018979.4(WNK1):c.1621-3T>C	WNK1	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 965110	NM_018979.4(WNK1):c.1701G>C (p.Arg567Ser)	WNK1 (R567S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1160004	NM_018979.4(WNK1):c.1776G>A (p.Gln592=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	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 1423782	NM_018979.4(WNK1):c.1820C>A (p.Pro607His)	WNK1 (P607H)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 538509	NM_018979.4(WNK1):c.1823C>G (p.Ser608Cys)	WNK1 (S608C)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1610143	NM_018979.4(WNK1):c.1952-18G>A	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GLikely benign
Select item 1051421	NM_018979.4(WNK1):c.1963G>C (p.Val655Leu)	WNK1 (V655L)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1112001	NM_018979.4(WNK1):c.1983C>T (p.Ser661=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1450066	NM_018979.4(WNK1):c.2006T>G (p.Val669Gly)	WNK1 (V669G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 310742	NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala)	WNK1 (T674A)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign/Likely benign
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 310743	NM_018979.4(WNK1):c.2052A>G (p.Ala684=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +2 more	GBenign/Likely benign
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 1145244	NM_018979.4(WNK1):c.2139+7A>G	WNK1	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
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 853973	NM_213655.5(WNK1):c.2147G>A (p.Arg716His)	WNK1 (R716H)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +1 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 1690573	NM_213655.5(WNK1):c.2162C>T (p.Ser721Leu)	WNK1 (S721L)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 623793	NM_213655.5(WNK1):c.2172T>C (p.Val724=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign/Likely benign
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 1464779	NM_213655.5(WNK1):c.2291T>C (p.Phe764Ser)	WNK1 (F764S)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1420294	NM_213655.5(WNK1):c.2328_2344del (p.Pro777fs)	WNK1 (P777fs)	Deletion (frameshift variant +1 more)	Pseudohypoaldosteronism type 2C +1 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 943558	NM_213655.5(WNK1):c.2351G>A (p.Arg784His)	WNK1 (R784H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1411007	NM_213655.5(WNK1):c.2354A>C (p.Lys785Thr)	WNK1 (K785T)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 934720	NM_213655.5(WNK1):c.2359C>T (p.Arg787Ter)	WNK1 (R787*)	Single nucleotide variant (nonsense +1 more)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
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 1001527	NM_213655.5(WNK1):c.2408C>T (p.Ala803Val)	WNK1 (A718V +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1159868	NM_213655.5(WNK1):c.2511G>A (p.Pro837=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 851762	NM_213655.5(WNK1):c.2568C>G (p.His856Gln)	WNK1 (H771Q +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 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 1357693	NM_213655.5(WNK1):c.2684C>G (p.Thr895Ser)	WNK1 (T895S +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
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 1166145	NM_213655.5(WNK1):c.2772A>G (p.Glu924=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
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 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 1043387	NM_213655.5(WNK1):c.3020C>T (p.Pro1007Leu)	WNK1 (P1007L +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1124210	NM_213655.5(WNK1):c.3108G>A (p.Ala1036=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 952301	NM_213655.5(WNK1):c.3218G>A (p.Arg1073His)	WNK1 (R988H +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 5168	NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter)	WNK1 (R1076* +1 more)	Single nucleotide variant (nonsense +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GPathogenic
Select item 1090258	NM_213655.5(WNK1):c.3267G>A (p.Leu1089=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 864218	NM_213655.5(WNK1):c.3293G>A (p.Gly1098Asp)	WNK1 (G1013D +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1150701	NM_213655.5(WNK1):c.3358G>T (p.Val1120Leu)	WNK1 (V1035L +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GLikely benign
Select item 1023297	NM_213655.5(WNK1):c.3415T>C (p.Ser1139Pro)	WNK1 (S1054P +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1052254	NM_018979.4(WNK1):c.2303C>T (p.Ala768Val)	WNK1 (A1181V +3 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1618369	NM_018979.4(WNK1):c.2373+18_2373+19insC	WNK1	Insertion (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 883155	NM_018979.4(WNK1):c.2625G>A (p.Thr875=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 310753	NM_018979.4(WNK1):c.2658G>C (p.Pro886=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GBenign/Likely benign
Select item 440422	NM_018979.4(WNK1):c.2664A>G (p.Val888=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 471175	NM_018979.4(WNK1):c.2684A>G (p.Gln895Arg)	WNK1 (Q895R)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 571997	NM_018979.4(WNK1):c.2947G>C (p.Glu983Gln)	WNK1 (E983Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 310811	NM_018979.4(WNK1):c.2969A>G (p.Tyr990Cys)	WNK1 (Y990C +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 310813	NM_018979.4(WNK1):c.3019A>G (p.Met1007Val)	WNK1 (M1007V +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GBenign/Likely benign
Select item 471176	NM_018979.4(WNK1):c.3029T>C (p.Val1010Ala)	WNK1 (V1010A +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 538540	NM_018979.4(WNK1):c.3081C>T (p.Pro1027=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 1642068	NM_018979.4(WNK1):c.3210-18T>C	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1314691	NM_018979.4(WNK1):c.3215A>C (p.His1072Pro)	WNK1 (H1072P +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 471178	NM_018979.4(WNK1):c.3326G>A (p.Arg1109His)	WNK1 (R1109H +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1163530	NM_018979.4(WNK1):c.3372+3A>G	WNK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1581527	NM_018979.4(WNK1):c.3390C>T (p.Asp1130=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1572845	NM_018979.4(WNK1):c.3489+17A>G	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GBenign/Likely benign

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