WNK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149131	GRCh38/hg38 12p13.33(chr12:54427-936828)x1	B4GALNT3, CCDC77 +44 more	Copy number loss	See cases	GUncertain significance
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 149979	GRCh38/hg38 12p13.33(chr12:431903-1521472)x3	B4GALNT3, CCDC77 +40 more	Copy number gain	See cases	GUncertain significance
Select item 882538	NM_018979.4(WNK1):c.-638C>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310518	NM_018979.4(WNK1):c.-598C>G	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
Select item 882539	NM_018979.4(WNK1):c.-514C>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GLikely benign
Select item 310519	NM_018979.4(WNK1):c.-452G>A	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C +1 more	GBenign
Select item 883321	NM_018979.4(WNK1):c.-373G>C	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310520	NM_018979.4(WNK1):c.-368G>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310521	NM_018979.4(WNK1):c.-351dup	WNK1	Duplication (5 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
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 310523	NM_018979.4(WNK1):c.-308G>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 310524	NM_018979.4(WNK1):c.-291G>A	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310525	NM_018979.4(WNK1):c.-263C>A	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310526	NM_018979.4(WNK1):c.-260G>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310527	NM_018979.4(WNK1):c.-253A>G	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310528	NM_018979.4(WNK1):c.-234T>C	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 310529	NM_018979.4(WNK1):c.-213G>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
Select item 310530	NM_018979.4(WNK1):c.-203C>G	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
Select item 310531	NM_018979.4(WNK1):c.-159C>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
Select item 310532	NM_018979.4(WNK1):c.-122C>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
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 310534	NM_018979.4(WNK1):c.-71G>A	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
Select item 880958	NM_018979.4(WNK1):c.-34C>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
Select item 310535	NM_018979.4(WNK1):c.-25C>G	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C +1 more	GBenign/Likely benign
Select item 310536	NM_018979.4(WNK1):c.-23C>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2C	GBenign
Select item 583869	NC_000012.11:g.(?_862712)_(1017978_?)dup	LOC130007152, LOC130007151 +1 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 583593	NC_000012.11:g.(?_862712)_(987547_?)dup	LOC130007151, WNK1	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 538546	NC_000012.11:g.(?_862712)_(980534_?)dup	LOC130007151, WNK1	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1422552	NM_018979.4(WNK1):c.8GCG[3] (p.Gly4dup)	WNK1	Microsatellite (inframe_insertion)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1099965	NM_018979.4(WNK1):c.6T>G (p.Ser2=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 1474647	NM_018979.4(WNK1):c.10G>A (p.Gly4Ser)	WNK1 (G4S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1747157	NM_018979.4(WNK1):c.11G>T (p.Gly4Val)	WNK1 (G4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 645633	NM_018979.4(WNK1):c.11_12delinsTT (p.Gly4Val)	WNK1 (G4V)	Indel (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1026892	NM_018979.4(WNK1):c.14C>T (p.Ala5Val)	WNK1 (A5V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1441656	NM_018979.4(WNK1):c.29G>A (p.Ser10Asn)	WNK1 (S10N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 774567	NM_018979.4(WNK1):c.33C>T (p.Ser11=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 1718747	NM_018979.4(WNK1):c.34A>G (p.Thr12Ala)	WNK1 (T12A)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1003816	NM_018979.4(WNK1):c.37C>T (p.Pro13Ser)	WNK1 (P13S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1632222	NM_018979.4(WNK1):c.39C>T (p.Pro13=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1645118	NM_018979.4(WNK1):c.45C>T (p.Ser15=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 1481992	NM_018979.4(WNK1):c.46C>G (p.Leu16Val)	WNK1 (L16V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 500596	NM_018979.4(WNK1):c.46C>T (p.Leu16=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +2 more	GConflicting classifications of pathogenicity
Select item 3190614	NM_018979.4(WNK1):c.47T>A (p.Leu16Gln)	WNK1 (L16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1394260	NM_018979.4(WNK1):c.49T>C (p.Phe17Leu)	WNK1 (F17L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2931387	NM_018979.4(WNK1):c.50T>A (p.Phe17Tyr)	WNK1 (F17Y)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2108451	NM_018979.4(WNK1):c.50T>G (p.Phe17Cys)	WNK1 (F17C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1028133	NM_018979.4(WNK1):c.59C>T (p.Pro20Leu)	WNK1 (P20L)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 1119329	NM_018979.4(WNK1):c.60G>T (p.Pro20=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 774264	NM_018979.4(WNK1):c.60G>A (p.Pro20=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 2947205	NM_018979.4(WNK1):c.61C>T (p.Pro21Ser)	WNK1 (P21S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1358606	NM_018979.4(WNK1):c.62C>T (p.Pro21Leu)	WNK1 (P21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 471208	NM_018979.4(WNK1):c.65C>T (p.Ala22Val)	WNK1 (A22V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1038862	NM_018979.4(WNK1):c.68C>T (p.Pro23Leu)	WNK1 (P23L)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 538500	NM_018979.4(WNK1):c.74C>T (p.Pro25Leu)	WNK1 (P25L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1760196	NM_018979.4(WNK1):c.76A>G (p.Lys26Glu)	WNK1 (K26E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1089092	NM_018979.4(WNK1):c.84C>T (p.Gly28=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2119859	NM_018979.4(WNK1):c.85T>C (p.Ser29Pro)	WNK1 (S29P)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2939140	NM_018979.4(WNK1):c.90C>G (p.Ser30Arg)	WNK1 (S30R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2921470	NM_018979.4(WNK1):c.90C>T (p.Ser30=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1390328	NM_018979.4(WNK1):c.92C>G (p.Ser31Cys)	WNK1 (S31C)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 729788	NM_018979.4(WNK1):c.93C>T (p.Ser31=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
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 1351636	NM_018979.4(WNK1):c.97T>A (p.Ser33Thr)	WNK1 (S33T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1768546	NM_018979.4(WNK1):c.98C>T (p.Ser33Phe)	WNK1 (S33F)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 310537	NM_018979.4(WNK1):c.99C>T (p.Ser33=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 2937992	NM_018979.4(WNK1):c.102C>T (p.Ser34=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 310538	NM_018979.4(WNK1):c.108G>C (p.Gly36=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 882317	NM_018979.4(WNK1):c.126G>A (p.Ala42=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GConflicting classifications of pathogenicity
Select item 565458	NM_018979.4(WNK1):c.128C>G (p.Ala43Gly)	WNK1 (A43G)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GConflicting classifications of pathogenicity
Select item 618496	NM_018979.4(WNK1):c.130G>A (p.Ala44Thr)	WNK1 (A44T)	Single nucleotide variant (missense variant)	not provided +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 2926293	NM_018979.4(WNK1):c.138T>C (p.Ala46=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 882318	NM_018979.4(WNK1):c.145G>A (p.Gly49Ser)	WNK1 (G49S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 1994267	NM_018979.4(WNK1):c.148A>G (p.Arg50Gly)	WNK1 (R50G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2186190	NM_018979.4(WNK1):c.153C>T (p.Thr51=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 591262	NM_018979.4(WNK1):c.159_161delinsTTG (p.Glu53_Tyr54delinsAspCys)	WNK1	Indel (missense variant)	not provided	GUncertain significance
Select item 2925869	NM_018979.4(WNK1):c.164G>A (p.Arg55Lys)	WNK1 (R55K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 448962	NM_018979.4(WNK1):c.166C>G (p.Arg56Gly)	WNK1 (R56G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance

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