"GeneDx"[submitter] AND "WNK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 310519	NM_018979.4(WNK1):c.-452G>A	WNK1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 310522	NM_018979.4(WNK1):c.-328C>G	WNK1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 310533	NM_018979.4(WNK1):c.-91T>G	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C +1 more	GBenign
Select item 310535	NM_018979.4(WNK1):c.-25C>G	WNK1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 261069	NM_018979.4(WNK1):c.258T>C (p.Cys86=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign
Select item 3363411	NM_018979.4(WNK1):c.410C>T (p.Pro137Leu)	WNK1 (P137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137927	NM_018979.4(WNK1):c.421G>A (p.Ala141Thr)	WNK1 (A141T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign
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 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 670589	NM_018979.4(WNK1):c.759+27G>A	WNK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291137	NM_018979.4(WNK1):c.933-190_933-189del	WNK1	Deletion (intron variant)	not provided	GBenign
Select item 450021	NM_018979.4(WNK1):c.1088C>T (p.Ser363Leu)	WNK1 (S363L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670590	NM_018979.4(WNK1):c.1153+40C>G	WNK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1282282	NM_018979.4(WNK1):c.1153+259TTG[8]	WNK1	Microsatellite (intron variant)	not provided	GBenign
Select item 681290	NM_018979.4(WNK1):c.1154-259T>A	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261066	NM_018979.4(WNK1):c.1287A>G (p.Ala429=)	WNK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 670864	NM_018979.4(WNK1):c.1311+154G>T	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670303	NM_018979.4(WNK1):c.1312-230A>G	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670304	NM_018979.4(WNK1):c.1312-203T>C	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670305	NM_018979.4(WNK1):c.1312-119G>A	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219789	NM_018979.4(WNK1):c.1401-149C>T	WNK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137922	NM_018979.4(WNK1):c.1401-11C>A	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign
Select item 137923	NM_018979.4(WNK1):c.1479T>C (p.Asp493=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign
Select item 310737	NM_018979.4(WNK1):c.1512A>G (p.Leu504=)	WNK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 1214741	NM_018979.4(WNK1):c.1620+105T>C	WNK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295897	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGGT	WNK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1244668	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGGTT	WNK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1231966	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGTGTGGTT	WNK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1188119	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGTGGTT	WNK1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1237831	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGG	WNK1	Insertion (intron variant)	not provided	GBenign
Select item 1214134	NM_018979.4(WNK1):c.1620+169_1620+170insGTGTGTGTGTGTGG	WNK1	Insertion (intron variant)	not provided	GLikely benign
Select item 1191027	NM_018979.4(WNK1):c.1620+257del	WNK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1223197	NM_018979.4(WNK1):c.1621-231C>T	WNK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198827	NM_018979.4(WNK1):c.1621-200C>T	WNK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247901	NM_018979.4(WNK1):c.1621-74del	WNK1	Deletion (intron variant)	not provided	GBenign
Select item 1201811	NM_018979.4(WNK1):c.1621-75_1621-74del	WNK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1263250	NM_018979.4(WNK1):c.1621-52G>T	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193550	NM_018979.4(WNK1):c.1621-29A>G	WNK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504197	NM_018979.4(WNK1):c.1905T>A (p.Asp635Glu)	WNK1 (D635E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 670306	NM_018979.4(WNK1):c.1951+209A>T	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286691	NM_018979.4(WNK1):c.1952-259A>G	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137924	NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile)	WNK1 (T665I)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign
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 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 310744	NM_018979.4(WNK1):c.2081T>C (p.Ile694Thr)	WNK1 (I694T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 677038	NM_018979.4(WNK1):c.2139+171G>A	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264534	NM_018979.4(WNK1):c.2139+2586A>G	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233795	NM_018979.4(WNK1):c.2139+2639C>T	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261742	NM_018979.4(WNK1):c.2139+2711dup	WNK1	Duplication (intron variant)	not provided	GBenign
Select item 704453	NM_213655.5(WNK1):c.2155A>G (p.Ser719Gly)	WNK1 (S719G)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign/Likely benign
Select item 1166421	NM_213655.5(WNK1):c.2175dup (p.Ile726fs)	WNK1 (I726fs)	Duplication (frameshift variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign
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 674047	NM_213655.5(WNK1):c.2190G>C (p.Leu730Phe)	WNK1 (L730F)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign
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 1164346	NM_213655.5(WNK1):c.2220dup (p.Phe741fs)	WNK1 (F741fs)	Duplication (frameshift variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign
Select item 852702	NM_213655.5(WNK1):c.2229dup (p.Thr744fs)	WNK1 (T744fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1708689	NM_213655.5(WNK1):c.2250dup (p.Ser751fs)	WNK1 (S751fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
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 702075	NM_213655.5(WNK1):c.2314T>C (p.Leu772=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign
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 678740	NM_018979.4(WNK1):c.2139+3331G>A	WNK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224958	NM_018979.4(WNK1):c.2139+3351C>T	WNK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 246554	NM_213655.5(WNK1):c.2398C>T (p.Gln800Ter)	WNK1 (Q800* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 509183	NM_213655.5(WNK1):c.2415G>A (p.Pro805=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GLikely benign
Select item 424147	NM_213655.5(WNK1):c.2473C>T (p.Arg825Cys)	WNK1 (R825C +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 934555	NM_213655.5(WNK1):c.2531G>A (p.Arg844Gln)	WNK1 (R759Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	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 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 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 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 1308483	NM_213655.5(WNK1):c.2679A>C (p.Arg893Ser)	WNK1 (R808S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708860	NM_213655.5(WNK1):c.2743G>A (p.Asp915Asn)	WNK1 (D830N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1306842	NM_213655.5(WNK1):c.2869T>C (p.Ser957Pro)	WNK1 (S872P +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	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 245846	NM_213655.5(WNK1):c.2966A>G (p.Gln989Arg)	WNK1 (Q989R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2444803	NM_213655.5(WNK1):c.2990A>G (p.Gln997Arg)	WNK1 (Q912R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706271	NM_213655.5(WNK1):c.3032T>C (p.Leu1011Pro)	WNK1 (L1011P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1062202	NM_213655.5(WNK1):c.3044C>T (p.Ser1015Phe)	WNK1 (S1015F +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 837006	NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val)	WNK1 (A1036V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 672269	NM_213655.5(WNK1):c.3201T>C (p.Gly1067=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GLikely benign
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 945758	NM_213655.5(WNK1):c.3232C>T (p.Arg1078Trp)	WNK1 (R1078W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1019980	NM_213655.5(WNK1):c.3259GAA[1] (p.Glu1088del)	WNK1 (E1003del +1 more)	Microsatellite (inframe_deletion +1 more)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 1710790	NM_213655.5(WNK1):c.3364C>T (p.Pro1122Ser)	WNK1 (P1037S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3372982	NM_213655.5(WNK1):c.3369C>G (p.Ile1123Met)	WNK1 (I1038M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 452834	NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu)	WNK1 (G1124E +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +3 more	GConflicting classifications of pathogenicity
Select item 864536	NM_213655.5(WNK1):c.3451T>C (p.Ser1151Pro)	WNK1 (S1151P +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 2663502	NM_213655.5(WNK1):c.3481C>T (p.Pro1161Ser)	WNK1 (P1076S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 424304	NM_213655.5(WNK1):c.3515A>G (p.His1172Arg)	WNK1 (H1172R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 973163	NM_213655.5(WNK1):c.3526_3529del (p.Thr1176fs)	WNK1 (T1091fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic

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