ClinVar for MedGen (Select 374457) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438610	NM_032387.5(WNK4):c.716C>A (p.Ser239Ter)	WNK4 (S239*)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 2438609	NM_032387.5(WNK4):c.3242G>A (p.Gly1081Glu)	WNK4 (G1081E +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 2438608	NM_032387.5(WNK4):c.3676C>T (p.Gln1226Ter)	WNK4 (Q1226* +1 more)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 1344664	NM_032387.5(WNK4):c.506C>T (p.Pro169Leu)	WNK4 (P169L)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GPathogenic
Select item 1299625	NM_032387.5(WNK4):c.1822del (p.Val608fs)	WNK4 (V272fs +1 more)	Deletion (frameshift variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 1177431	NM_032387.5(WNK4):c.3108del (p.Thr1037fs)	WNK4 (T1037fs +1 more)	Deletion (frameshift variant)	Pseudohypoaldosteronism type 2B	GLikely pathogenic
Select item 891897	NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys)	WNK4 (R1199C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 891896	NM_032387.5(WNK4):c.3440C>T (p.Ser1147Leu)	WNK4 (S1147L +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891895	NM_032387.5(WNK4):c.3432-5C>T	WNK4	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891835	NM_032387.5(WNK4):c.2297A>G (p.Glu766Gly)	WNK4 (E430G +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 891834	NM_032387.5(WNK4):c.2264T>A (p.Met755Lys)	WNK4 (M755K +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891833	NM_032387.5(WNK4):c.2030G>A (p.Arg677Gln)	WNK4 (R677Q +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 891832	NM_032387.5(WNK4):c.2029C>T (p.Arg677Trp)	WNK4 (R677W +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B +2 more	GBenign/Likely benign
Select item 891767	NM_032387.5(WNK4):c.1405C>T (p.Arg469Trp)	WNK4 (R133W +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 891766	NM_032387.5(WNK4):c.1357C>T (p.Leu453Phe)	WNK4 (L453F +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891765	NM_032387.5(WNK4):c.1073T>A (p.Val358Glu)	WNK4, LOC126862568 (C52S +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891764	NM_032387.5(WNK4):c.937C>G (p.Pro313Ala)	LOC126862568, WNK4 (P313A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 891763	NM_032387.5(WNK4):c.924C>T (p.Val308=)	LOC126862568, WNK4 (S2F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 891576	NM_032387.5(WNK4):c.1855C>T (p.Leu619=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 891575	NM_032387.5(WNK4):c.1818G>A (p.Gly606=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 891519	NM_032387.5(WNK4):c.716C>G (p.Ser239Trp)	WNK4 (S239W)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 891518	NM_032387.5(WNK4):c.643C>T (p.Arg215Trp)	WNK4 (R215W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 891517	NM_032387.5(WNK4):c.560C>T (p.Thr187Met)	WNK4 (T187M)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891516	NM_032387.5(WNK4):c.450G>A (p.Arg150=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891515	NM_032387.5(WNK4):c.383C>G (p.Pro128Arg)	WNK4 (P128R)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B +1 more	GConflicting classifications of pathogenicity
Select item 891514	NM_032387.5(WNK4):c.316C>A (p.Pro106Thr)	WNK4 (P106T)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 890657	NM_032387.5(WNK4):c.3409G>A (p.Glu1137Lys)	WNK4 (E801K +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 890656	NM_032387.5(WNK4):c.3223C>T (p.Arg1075Cys)	WNK4 (R1075C +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 890655	NM_032387.5(WNK4):c.3032C>T (p.Pro1011Leu)	WNK4 (P675L +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 890082	NM_032387.5(WNK4):c.2860C>T (p.Pro954Ser)	WNK4 (P618S +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 890081	NM_032387.5(WNK4):c.2814C>G (p.Ala938=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 890080	NM_032387.5(WNK4):c.2681C>T (p.Pro894Leu)	WNK4 (P558L +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 890019	NM_032387.5(WNK4):c.1743G>A (p.Ser581=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GBenign/Likely benign
Select item 890018	NM_032387.5(WNK4):c.1741+9C>G	WNK4	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 890017	NM_032387.5(WNK4):c.1666C>A (p.Pro556Thr)	WNK4 (P556T +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B +1 more	GBenign/Likely benign
Select item 889959	NM_032387.5(WNK4):c.246C>A (p.Asp82Glu)	WNK4 (D82E)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 889958	NM_032387.5(WNK4):c.204G>A (p.Gly68=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 889957	NM_032387.5(WNK4):c.164G>A (p.Arg55His)	WNK4 (R55H)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889956	NM_032387.5(WNK4):c.92C>A (p.Ala31Glu)	WNK4 (A31E)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GBenign/Likely benign
Select item 889955	NM_032387.5(WNK4):c.79C>G (p.Pro27Ala)	WNK4 (P27A)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889443	NM_032387.5(WNK4):c.*370A>G	WNK4	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889442	NM_032387.5(WNK4):c.*148C>T	WNK4	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889441	NM_032387.5(WNK4):c.3632-14C>A	WNK4	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889391	NM_032387.5(WNK4):c.2625A>G (p.Pro875=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889390	NM_032387.5(WNK4):c.2610C>T (p.Pro870=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889389	NM_032387.5(WNK4):c.2481C>T (p.Pro827=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 889388	NM_032387.5(WNK4):c.2348A>G (p.Asn783Ser)	WNK4 (N783S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 889336	NM_032387.5(WNK4):c.1527A>G (p.Ala509=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 889335	NM_032387.5(WNK4):c.1414C>G (p.Gln472Glu)	WNK4 (Q136E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 760222	NM_032387.5(WNK4):c.2157+6G>C	WNK4	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 740756	NM_032387.5(WNK4):c.2136G>A (p.Pro712=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 740151	NM_032387.5(WNK4):c.2310A>G (p.Pro770=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 727141	NM_032387.5(WNK4):c.3032C>G (p.Pro1011Arg)	WNK4 (P675R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 693993	NM_032387.5(WNK4):c.2009G>A (p.Arg670His)	WNK4 (R334H +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 591336	NM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile)	LOC126862568, WNK4 (C59F +1 more)	Indel (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 492932	NM_032387.5(WNK4):c.3659G>T (p.Gly1220Val)	WNK4 (G1220V +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 375699	NM_032387.5(WNK4):c.3505A>G (p.Lys1169Glu)	WNK4 (K1169E +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	Gnot provided
Select item 375698	NM_032387.5(WNK4):c.1690G>C (p.Asp564His)	WNK4 (D564H +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	Gnot provided
Select item 375697	NM_032387.5(WNK4):c.1682C>T (p.Pro561Leu)	WNK4 (P561L +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	Gnot provided
Select item 375696	NM_032387.5(WNK4):c.1679A>G (p.Glu560Gly)	WNK4 (E560G +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	Gnot provided
Select item 323358	NM_032387.5(WNK4):c.*340C>A	WNK4	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 323357	NM_032387.5(WNK4):c.*335C>G	WNK4	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323356	NM_032387.5(WNK4):c.*6G>A	WNK4	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323355	NM_032387.5(WNK4):c.3610C>T (p.Arg1204Cys)	WNK4 (R1204C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 323354	NM_032387.5(WNK4):c.3595C>A (p.Arg1199Ser)	WNK4 (R1199S +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323353	NM_032387.5(WNK4):c.3523A>G (p.Ile1175Val)	WNK4 (I1175V +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 323352	NM_032387.5(WNK4):c.3518C>A (p.Pro1173Gln)	WNK4 (P1173Q +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B +1 more	GBenign
Select item 323351	NM_032387.5(WNK4):c.3251T>C (p.Val1084Ala)	WNK4 (V1084A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323350	NM_032387.5(WNK4):c.3074C>T (p.Pro1025Leu)	WNK4 (P1025L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323349	NM_032387.5(WNK4):c.3022+3A>G	WNK4	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323348	NM_032387.5(WNK4):c.2900C>G (p.Pro967Arg)	WNK4 (P967R +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 323347	NM_032387.5(WNK4):c.2881C>T (p.Pro961Ser)	WNK4 (P961S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323346	NM_032387.5(WNK4):c.2842C>A (p.Leu948Ile)	WNK4 (L948I +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323344	NM_032387.5(WNK4):c.2823G>A (p.Leu941=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 323343	NM_032387.5(WNK4):c.2724G>A (p.Pro908=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323342	NM_032387.5(WNK4):c.2672C>T (p.Thr891Met)	WNK4 (T891M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323341	NM_032387.5(WNK4):c.2588T>G (p.Leu863Arg)	WNK4 (L863R +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323340	NM_032387.5(WNK4):c.2474C>T (p.Pro825Leu)	WNK4 (P825L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323339	NM_032387.5(WNK4):c.2369C>A (p.Thr790Asn)	WNK4 (T790N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323338	NM_032387.5(WNK4):c.2334C>T (p.Leu778=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323337	NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln)	WNK4 (R738Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 323336	NM_032387.5(WNK4):c.2207G>A (p.Arg736Gln)	WNK4 (R736Q +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GBenign/Likely benign
Select item 323335	NM_032387.5(WNK4):c.2005C>T (p.Arg669Trp)	WNK4 (R669W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 323334	NM_032387.5(WNK4):c.1953C>T (p.Ser651=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 323333	NM_032387.5(WNK4):c.1888T>C (p.Ser630Pro)	WNK4 (S630P +1 more)	Single nucleotide variant (missense variant)	WNK4-related disorder +2 more	GBenign/Likely benign
Select item 323332	NM_032387.5(WNK4):c.1885C>T (p.Arg629Cys)	WNK4 (R629C +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B +1 more	GConflicting classifications of pathogenicity
Select item 323331	NM_032387.5(WNK4):c.1864-11T>C	WNK4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 323330	NM_032387.5(WNK4):c.1853G>T (p.Cys618Phe)	WNK4 (C618F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 323329	NM_032387.5(WNK4):c.1827A>G (p.Pro609=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 323328	NM_032387.5(WNK4):c.1809G>A (p.Gln603=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 323327	NM_032387.5(WNK4):c.1801G>T (p.Ala601Ser)	WNK4 (A601S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323326	NM_032387.5(WNK4):c.1719C>T (p.His573=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 323325	NM_032387.5(WNK4):c.1664C>G (p.Pro555Arg)	WNK4 (P555R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 323324	NM_032387.5(WNK4):c.1653C>T (p.Pro551=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 323323	NM_032387.5(WNK4):c.1641C>T (p.Ala547=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B +2 more	GBenign
Select item 323322	NM_032387.5(WNK4):c.1574G>A (p.Arg525His)	WNK4 (R525H +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323321	NM_032387.5(WNK4):c.1572G>T (p.Leu524=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 323320	NM_032387.5(WNK4):c.1524T>C (p.Arg508=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323319	NM_032387.5(WNK4):c.1523G>A (p.Arg508His)	WNK4 (R508H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 323318	NM_032387.5(WNK4):c.1477-13A>G	WNK4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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