WNK2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 197

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 3190636	NM_006648.4(WNK2):c.40C>G (p.Leu14Val)	WNK2 (L14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216789	NM_006648.4(WNK2):c.232C>T (p.Leu78Phe)	WNK2 (L78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366233	NM_006648.4(WNK2):c.260A>G (p.Glu87Gly)	WNK2 (E87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457921	NM_006648.4(WNK2):c.263G>T (p.Arg88Leu)	WNK2 (R88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510590	NM_006648.4(WNK2):c.349G>A (p.Glu117Lys)	WNK2 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231760	NM_006648.4(WNK2):c.380A>C (p.Asp127Ala)	WNK2 (D127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536392	NM_006648.4(WNK2):c.407C>T (p.Ala136Val)	WNK2 (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243795	NM_006648.4(WNK2):c.412G>A (p.Ala138Thr)	WNK2 (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190640	NM_006648.4(WNK2):c.451G>C (p.Val151Leu)	WNK2 (V151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190642	NM_006648.4(WNK2):c.487C>T (p.Pro163Ser)	WNK2 (P163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460247	NM_006648.4(WNK2):c.509G>C (p.Arg170Pro)	WNK2 (R170P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190647	NM_006648.4(WNK2):c.512A>C (p.Asp171Ala)	WNK2 (D171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524315	NM_006648.4(WNK2):c.531G>C (p.Glu177Asp)	WNK2 (E177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296329	NM_006648.4(WNK2):c.707G>A (p.Arg236Gln)	WNK2 (R236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333156	NM_006648.4(WNK2):c.755C>A (p.Pro252His)	WNK2 (P252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190659	NM_006648.4(WNK2):c.872A>G (p.Lys291Arg)	WNK2 (K291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780820	NM_006648.4(WNK2):c.1076-9C>T	WNK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3333152	NM_006648.4(WNK2):c.1139A>G (p.Tyr380Cys)	WNK2 (Y380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274770	NM_006648.4(WNK2):c.1430G>A (p.Arg477Lys)	WNK2 (R477K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289143	NM_006648.4(WNK2):c.1532C>T (p.Ala511Val)	WNK2 (A511V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602118	NM_006648.4(WNK2):c.1573G>A (p.Val525Ile)	WNK2 (V525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614042	NM_006648.4(WNK2):c.1610C>G (p.Ala537Gly)	WNK2 (A537G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333157	NM_006648.4(WNK2):c.1682C>T (p.Pro561Leu)	WNK2 (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333151	NM_006648.4(WNK2):c.1703C>T (p.Pro568Leu)	WNK2 (P568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190617	NM_006648.4(WNK2):c.1720C>A (p.Gln574Lys)	WNK2 (Q574K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551341	NM_006648.4(WNK2):c.1790A>G (p.His597Arg)	WNK2 (H597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190618	NM_006648.4(WNK2):c.1910T>C (p.Leu637Pro)	WNK2 (L637P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364694	NM_006648.4(WNK2):c.1913G>A (p.Gly638Asp)	WNK2 (G638D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190619	NM_006648.4(WNK2):c.1922C>A (p.Ala641Asp)	WNK2 (A641D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379830	NM_006648.4(WNK2):c.1931C>T (p.Ala644Val)	WNK2 (A644V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333155	NM_006648.4(WNK2):c.1933C>T (p.Pro645Ser)	WNK2 (P645S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346551	NM_006648.4(WNK2):c.1963C>G (p.Pro655Ala)	WNK2 (P655A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515515	NM_006648.4(WNK2):c.1999C>G (p.Pro667Ala)	WNK2 (P667A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543186	NM_006648.4(WNK2):c.2018A>G (p.Gln673Arg)	WNK2 (Q673R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270436	NM_006648.4(WNK2):c.2030C>T (p.Ala677Val)	WNK2 (A677V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618936	NM_006648.4(WNK2):c.2050G>A (p.Gly684Ser)	WNK2 (G684S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593664	NM_006648.4(WNK2):c.2060C>T (p.Pro687Leu)	WNK2 (P687L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560773	NM_006648.4(WNK2):c.2068G>C (p.Ala690Pro)	WNK2 (A690P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190620	NM_006648.4(WNK2):c.2078C>T (p.Pro693Leu)	WNK2 (P693L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379081	NM_006648.4(WNK2):c.2105C>T (p.Pro702Leu)	WNK2 (P702L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518441	NM_006648.4(WNK2):c.2112G>C (p.Met704Ile)	WNK2 (M704I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333154	NM_006648.4(WNK2):c.2119G>A (p.Ala707Thr)	WNK2 (A707T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237718	NM_006648.4(WNK2):c.2162C>T (p.Pro721Leu)	WNK2 (P721L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333170	NM_006648.4(WNK2):c.2180C>G (p.Pro727Arg)	WNK2 (P727R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778435	NM_006648.4(WNK2):c.2190+7G>A	WNK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2485893	NM_006648.4(WNK2):c.2208G>T (p.Gln736His)	WNK2 (Q736H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481354	NM_006648.4(WNK2):c.2251C>G (p.Pro751Ala)	WNK2 (P751A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190621	NM_006648.4(WNK2):c.2270C>T (p.Pro757Leu)	WNK2 (P757L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771731	NM_006648.4(WNK2):c.2272C>A (p.His758Asn)	WNK2 (H758N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3190622	NM_006648.4(WNK2):c.2282C>T (p.Pro761Leu)	WNK2 (P761L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190623	NM_006648.4(WNK2):c.2305G>A (p.Val769Met)	WNK2 (V769M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460717	NM_006648.4(WNK2):c.2337G>T (p.Gln779His)	WNK2 (Q779H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190624	NM_006648.4(WNK2):c.2360C>A (p.Pro787Gln)	WNK2 (P787Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190625	NM_006648.4(WNK2):c.2434G>A (p.Gly812Ser)	WNK2 (G812S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333149	NM_006648.4(WNK2):c.2435G>A (p.Gly812Asp)	WNK2 (G812D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227377	NM_006648.4(WNK2):c.2444C>T (p.Pro815Leu)	WNK2 (P815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257884	NM_006648.4(WNK2):c.2473G>C (p.Val825Leu)	WNK2 (V825L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390198	NM_006648.4(WNK2):c.2488C>A (p.Pro830Thr)	WNK2 (P830T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259231	NM_006648.4(WNK2):c.2558C>T (p.Ala853Val)	WNK2 (A853V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346109	NM_006648.4(WNK2):c.2562G>C (p.Leu854Phe)	WNK2 (L854F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296943	NM_006648.4(WNK2):c.2593C>G (p.Pro865Ala)	WNK2 (P865A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383125	NM_006648.4(WNK2):c.2602C>T (p.Pro868Ser)	WNK2 (P868S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190627	NM_006648.4(WNK2):c.2624C>T (p.Thr875Ile)	WNK2 (T875I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190628	NM_006648.4(WNK2):c.2642C>T (p.Pro881Leu)	WNK2 (P881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401747	NM_006648.4(WNK2):c.2680G>A (p.Val894Met)	WNK2 (V894M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244948	NM_006648.4(WNK2):c.2707G>A (p.Val903Met)	WNK2 (V903M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776434	NM_006648.4(WNK2):c.2723G>C (p.Gly908Ala)	WNK2 (G908A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2302200	NM_006648.4(WNK2):c.2836C>T (p.Pro946Ser)	WNK2 (P946S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333165	NM_006648.4(WNK2):c.2870C>T (p.Pro957Leu)	WNK2 (P957L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609418	NM_006648.4(WNK2):c.2924C>T (p.Pro975Leu)	WNK2 (P975L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190629	NM_006648.4(WNK2):c.2989G>A (p.Ala997Thr)	WNK2 (A997T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352541	NM_006648.4(WNK2):c.2990C>T (p.Ala997Val)	WNK2 (A997V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286414	NM_006648.4(WNK2):c.2996C>T (p.Pro999Leu)	WNK2 (P999L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393381	NM_006648.4(WNK2):c.3014T>C (p.Leu1005Pro)	WNK2 (L1005P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346232	NM_006648.4(WNK2):c.3124G>A (p.Val1042Met)	WNK2 (V1042M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659309	NM_006648.4(WNK2):c.3138G>C (p.Pro1046=)	WNK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333166	NM_006648.4(WNK2):c.3164C>A (p.Pro1055Gln)	WNK2 (P1055Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333150	NM_006648.4(WNK2):c.3238G>A (p.Val1080Met)	WNK2 (V1080M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260578	NM_006648.4(WNK2):c.3245G>A (p.Ser1082Asn)	WNK2 (S1082N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210238	NM_006648.4(WNK2):c.3289C>T (p.Pro1097Ser)	WNK2 (P1097S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532627	NM_006648.4(WNK2):c.3313G>A (p.Ala1105Thr)	WNK2 (A1105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312790	NM_006648.4(WNK2):c.3363G>T (p.Glu1121Asp)	WNK2 (E1121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190631	NM_006648.4(WNK2):c.3365A>G (p.Gln1122Arg)	WNK2 (Q1122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190632	NM_006648.4(WNK2):c.3466G>A (p.Ala1156Thr)	WNK2 (A1156T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3333164	NM_006648.4(WNK2):c.3479G>A (p.Gly1160Asp)	WNK2 (G1160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190633	NM_006648.4(WNK2):c.3530C>T (p.Ala1177Val)	WNK2 (A1177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2