14544[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 1225240	NC_000017.11:g.42780435G>C	WNK4	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1287983	NC_000017.11:g.42780596G>C	WNK4	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 323308	NM_032387.5(WNK4):c.-22C>T	WNK4	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2B	GBenign
Select item 323309	NM_032387.5(WNK4):c.14C>T (p.Pro5Leu)	WNK4 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2193437	NM_032387.5(WNK4):c.15G>A (p.Pro5=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 323310	NM_032387.5(WNK4):c.16G>A (p.Ala6Thr)	WNK4 (A6T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 2232933	NM_032387.5(WNK4):c.17C>A (p.Ala6Asp)	WNK4 (A6D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2913764	NM_032387.5(WNK4):c.33C>T (p.Val11=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2014396	NM_032387.5(WNK4):c.35T>G (p.Leu12Arg)	WNK4 (L12R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2970566	NM_032387.5(WNK4):c.37A>G (p.Met13Val)	WNK4 (M13V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3190695	NM_032387.5(WNK4):c.38T>G (p.Met13Arg)	WNK4 (M13R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1694844	NM_032387.5(WNK4):c.45G>A (p.Gln15=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 323311	NM_032387.5(WNK4):c.47C>T (p.Thr16Ile)	WNK4 (T16I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2630110	NM_032387.5(WNK4):c.64C>A (p.Leu22Met)	WNK4 (L22M)	Single nucleotide variant (5 prime UTR variant +1 more)	WNK4-related disorder	GUncertain significance
Select item 2483485	NM_032387.5(WNK4):c.64C>G (p.Leu22Val)	WNK4 (L22V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2900927	NM_032387.5(WNK4):c.82C>G (p.Leu28Val)	WNK4 (L28V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 2987759	NM_032387.5(WNK4):c.99G>A (p.Gln33=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2339621	NM_032387.5(WNK4):c.103C>T (p.Arg35Cys)	WNK4 (R35C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332034	NM_032387.5(WNK4):c.140C>T (p.Ser47Phe)	WNK4 (S47F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2860871	NM_032387.5(WNK4):c.142G>C (p.Gly48Arg)	WNK4 (G48R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2219601	NM_032387.5(WNK4):c.148G>A (p.Ala50Thr)	WNK4 (A50T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2266317	NM_032387.5(WNK4):c.154C>G (p.Pro52Ala)	WNK4 (P52A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2064466	NM_032387.5(WNK4):c.182G>A (p.Arg61His)	WNK4 (R61H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 323312	NM_032387.5(WNK4):c.239C>A (p.Ala80Asp)	WNK4 (A80D)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B +2 more	GBenign
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 3190684	NM_032387.5(WNK4):c.254A>G (p.Asp85Gly)	WNK4 (D85G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190685	NM_032387.5(WNK4):c.262G>C (p.Asp88His)	WNK4 (D88H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2415799	NM_032387.5(WNK4):c.268G>T (p.Ala90Ser)	WNK4 (A90S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2155212	NM_032387.5(WNK4):c.292C>A (p.Pro98Thr)	WNK4 (P98T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2065203	NM_032387.5(WNK4):c.297G>T (p.Pro99=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 2783727	NM_032387.5(WNK4):c.321G>A (p.Glu107=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2065989	NM_032387.5(WNK4):c.374C>G (p.Pro125Arg)	WNK4 (P125R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2908118	NM_032387.5(WNK4):c.375C>G (p.Pro125=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 2164266	NM_032387.5(WNK4):c.474G>A (p.Glu158=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2180841	NM_032387.5(WNK4):c.476A>G (p.Asp159Gly)	WNK4 (D159G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2538084	NM_032387.5(WNK4):c.491C>T (p.Ala164Val)	WNK4 (A164V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486186	NM_032387.5(WNK4):c.493G>T (p.Val165Leu)	WNK4 (V165L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190696	NM_032387.5(WNK4):c.500C>A (p.Thr167Lys)	WNK4 (T167K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 323313	NM_032387.5(WNK4):c.507C>A (p.Pro169=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2417943	NM_032387.5(WNK4):c.531_532del (p.Ile178fs)	WNK4 (I178fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2395891	NM_032387.5(WNK4):c.533T>C (p.Ile178Thr)	WNK4 (I178T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64603	NM_032387.5(WNK4):c.546T>A (p.Arg182=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2120525	NM_032387.5(WNK4):c.550T>C (p.Ser184Pro)	WNK4 (S184P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 1961866	NM_032387.5(WNK4):c.587C>A (p.Thr196Asn)	WNK4 (T196N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1224180	NM_032387.5(WNK4):c.619-110C>G	WNK4	Single nucleotide variant (intron variant)	not provided	GBenign
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 2223736	NM_032387.5(WNK4):c.650G>A (p.Arg217His)	WNK4 (R217H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2957416	NM_032387.5(WNK4):c.665_668dup (p.Glu223fs)	WNK4 (E223fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2901027	NM_032387.5(WNK4):c.675C>T (p.Leu225=)	WNK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 323314	NM_032387.5(WNK4):c.679G>T (p.Gly227Trp)	WNK4 (G227W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1987041	NM_032387.5(WNK4):c.692C>T (p.Pro231Leu)	WNK4 (P231L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417908	NM_032387.5(WNK4):c.703C>T (p.Arg235Cys)	WNK4 (R235C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2804909	NM_032387.5(WNK4):c.704G>A (p.Arg235His)	WNK4 (R235H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 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 323315	NM_032387.5(WNK4):c.717G>T (p.Ser239=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2A	GLikely benign
Select item 3035321	NM_032387.5(WNK4):c.730C>T (p.Leu244=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	WNK4-related disorder	GLikely benign
Select item 2183592	NM_032387.5(WNK4):c.731T>C (p.Leu244Pro)	WNK4 (L244P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2063651	NM_032387.5(WNK4):c.762C>T (p.Thr254=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1049784	NM_032387.5(WNK4):c.776C>T (p.Ser259Leu)	WNK4 (S259L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3041421	NM_032387.5(WNK4):c.783G>A (p.Thr261=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	WNK4-related disorder	GLikely benign
Select item 3022961	NM_032387.5(WNK4):c.791+11C>T	LOC126862568, WNK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957390	NM_032387.5(WNK4):c.791+19T>C	LOC126862568, WNK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914322	NM_032387.5(WNK4):c.792-16A>G	LOC126862568, WNK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812939	NM_032387.5(WNK4):c.824G>A (p.Arg275Gln)	LOC126862568, WNK4 (R275Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2177268	NM_032387.5(WNK4):c.825G>A (p.Arg275=)	LOC126862568, WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2133211	NM_032387.5(WNK4):c.880del (p.Arg294fs)	LOC126862568, WNK4 (R294fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2282886	NM_032387.5(WNK4):c.884T>G (p.Val295Gly)	LOC126862568, WNK4 (V295G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250074	NM_032387.5(WNK4):c.901C>G (p.Arg301Gly)	LOC126862568, WNK4 (R301G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2879801	NM_032387.5(WNK4):c.903G>A (p.Arg301=)	LOC126862568, WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2834835	NM_032387.5(WNK4):c.920A>C (p.Asn307Thr)	LOC126862568, WNK4 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2265201	NM_032387.5(WNK4):c.941C>T (p.Thr314Ile)	LOC126862568, WNK4 (T314I)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 323316	NM_032387.5(WNK4):c.945C>T (p.Gly315=)	LOC126862568, WNK4 (A9V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2622677	NM_032387.5(WNK4):c.959G>A (p.Gly320Glu)	LOC126862568, WNK4 (G320E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64604	NM_032387.5(WNK4):c.973G>A (p.Ala325Thr)	LOC126862568, WNK4 (A325T +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2286353	NM_032387.5(WNK4):c.977C>A (p.Thr326Lys)	LOC126862568, WNK4 (R20S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2799403	NM_032387.5(WNK4):c.986G>T (p.Arg329Leu)	LOC126862568, WNK4 (R329L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028485	NM_032387.5(WNK4):c.987C>T (p.Arg329=)	LOC126862568, WNK4 (A23V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2254304	NM_032387.5(WNK4):c.1033C>T (p.Pro345Ser)	LOC126862568, WNK4 (P345S)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	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 808275	NM_032387.5(WNK4):c.1080G>T (p.Ala360=)	LOC126862568, WNK4 (R54L)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2776855	NM_032387.5(WNK4):c.1090T>G (p.Cys364Gly)	WNK4, LOC126862568 (C364G +1 more)	Single nucleotide variant (missense variant)	not provided	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 3190677	NM_032387.5(WNK4):c.1160A>G (p.Lys387Arg)	LOC126862568, WNK4 (K387R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1224580	NM_032387.5(WNK4):c.1170+145G>A	WNK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179219	NM_032387.5(WNK4):c.1171-188A>G	WNK4	Single nucleotide variant (intron variant)	not provided	GBenign

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