"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "WNK1"[g - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1547

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583869	NC_000012.11:g.(?_862712)_(1017978_?)dup	LOC130007151, LOC130007152 +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	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1422552	NM_018979.4(WNK1):c.8GCG[3] (p.Gly4dup)	WNK1	Microsatellite (inframe_insertion)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1099965	NM_018979.4(WNK1):c.6T>G (p.Ser2=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1474647	NM_018979.4(WNK1):c.10G>A (p.Gly4Ser)	WNK1 (G4S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 645633	NM_018979.4(WNK1):c.11_12delinsTT (p.Gly4Val)	WNK1 (G4V)	Indel (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +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)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 774567	NM_018979.4(WNK1):c.33C>T (p.Ser11=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +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)	Neuropathy, hereditary sensory and autonomic, type 2A +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)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
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 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)	Neuropathy, hereditary sensory and autonomic, type 2A +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)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 471208	NM_018979.4(WNK1):c.65C>T (p.Ala22Val)	WNK1 (A22V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1038862	NM_018979.4(WNK1):c.68C>T (p.Pro23Leu)	WNK1 (P23L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 538500	NM_018979.4(WNK1):c.74C>T (p.Pro25Leu)	WNK1 (P25L)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +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)	Neuropathy, hereditary sensory and autonomic, type 2A +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)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 729788	NM_018979.4(WNK1):c.93C>T (p.Ser31=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1017219	NM_018979.4(WNK1):c.94G>T (p.Asp32Tyr)	WNK1 (D32Y)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1351636	NM_018979.4(WNK1):c.97T>A (p.Ser33Thr)	WNK1 (S33T)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1768546	NM_018979.4(WNK1):c.98C>T (p.Ser33Phe)	WNK1 (S33F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 882317	NM_018979.4(WNK1):c.126G>A (p.Ala42=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +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)	Inborn genetic diseases +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)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 861445	NM_018979.4(WNK1):c.131C>T (p.Ala44Val)	WNK1 (A44V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +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 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 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
Select item 2934138	NM_018979.4(WNK1):c.174C>G (p.Arg58=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1088279	NM_018979.4(WNK1):c.174C>T (p.Arg58=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1493970	NM_018979.4(WNK1):c.181A>G (p.Met61Val)	WNK1 (M61V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 934320	NM_018979.4(WNK1):c.187A>C (p.Lys63Gln)	WNK1 (K63Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 1966953	NM_018979.4(WNK1):c.189G>C (p.Lys63Asn)	WNK1 (K63N)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 471170	NM_018979.4(WNK1):c.192C>T (p.Asp64=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 970451	NM_018979.4(WNK1):c.194G>A (p.Ser65Asn)	WNK1 (S65N)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1394698	NM_018979.4(WNK1):c.197G>T (p.Arg66Leu)	WNK1 (R66L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 882319	NM_018979.4(WNK1):c.198T>C (p.Arg66=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GConflicting classifications of pathogenicity
Select item 1355817	NM_018979.4(WNK1):c.204_212del (p.Ala69_Thr71del)	WNK1	Deletion (inframe_deletion)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2936186	NM_018979.4(WNK1):c.207C>G (p.Ala69=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 882585	NM_018979.4(WNK1):c.209C>G (p.Ala70Gly)	WNK1 (A70G)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GConflicting classifications of pathogenicity
Select item 538537	NM_018979.4(WNK1):c.210G>A (p.Ala70=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +2 more	GLikely benign
Select item 471172	NM_018979.4(WNK1):c.214A>G (p.Thr72Ala)	WNK1 (T72A)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2930974	NM_018979.4(WNK1):c.219CAC[4] (p.Thr75_Glu76insThrThr)	WNK1	Microsatellite (inframe_insertion)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 471173	NM_018979.4(WNK1):c.217A>G (p.Thr73Ala)	WNK1 (T73A)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2154977	NM_018979.4(WNK1):c.222C>G (p.Thr74=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 1961935	NM_018979.4(WNK1):c.222C>T (p.Thr74=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2929771	NM_018979.4(WNK1):c.223A>T (p.Thr75Ser)	WNK1 (T75S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1022987	NM_018979.4(WNK1):c.223_225del (p.Thr75del)	WNK1 (T75del)	Deletion (inframe_deletion)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1933127	NM_018979.4(WNK1):c.230A>C (p.His77Pro)	WNK1 (H77P)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 717989	NM_018979.4(WNK1):c.237C>T (p.Phe79=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely 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 748454	NM_018979.4(WNK1):c.261C>T (p.Asp87=)	WNK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756829	NM_018979.4(WNK1):c.264C>T (p.Ser88=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GConflicting classifications of pathogenicity
Select item 310540	NM_018979.4(WNK1):c.266A>G (p.Asn89Ser)	WNK1 (N89S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2928435	NM_018979.4(WNK1):c.271A>T (p.Thr91Ser)	WNK1 (T91S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2927030	NM_018979.4(WNK1):c.273T>C (p.Thr91=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 310541	NM_018979.4(WNK1):c.295C>T (p.Pro99Ser)	WNK1 (P99S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GConflicting classifications of pathogenicity
Select item 310542	NM_018979.4(WNK1):c.296C>T (p.Pro99Leu)	WNK1 (P99L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GConflicting classifications of pathogenicity
Select item 1439734	NM_018979.4(WNK1):c.298C>T (p.Leu100Phe)	WNK1 (L100F)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1660289	NM_018979.4(WNK1):c.304C>T (p.Leu102=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 538505	NM_018979.4(WNK1):c.314C>G (p.Pro105Arg)	WNK1 (P105R)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +2 more	GUncertain significance
Select item 2418218	NM_018979.4(WNK1):c.322C>G (p.Pro108Ala)	WNK1 (P108A)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2926841	NM_018979.4(WNK1):c.328G>T (p.Ala110Ser)	WNK1 (A110S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1106781	NM_018979.4(WNK1):c.336G>T (p.Pro112=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 939078	NM_018979.4(WNK1):c.341G>T (p.Ser114Ile)	WNK1 (S114I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 939964	NM_018979.4(WNK1):c.347C>A (p.Pro116Gln)	WNK1 (P116Q)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2178648	NM_018979.4(WNK1):c.350C>A (p.Pro117Gln)	WNK1 (P117Q)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 2949292	NM_018979.4(WNK1):c.353A>G (p.Glu118Gly)	WNK1 (E118G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 862076	NM_018979.4(WNK1):c.355C>A (p.Pro119Thr)	WNK1 (P119T)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 944851	NM_018979.4(WNK1):c.359A>G (p.His120Arg)	WNK1 (H120R)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1018188	NM_018979.4(WNK1):c.361C>T (p.Arg121Trp)	WNK1 (R121W)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1920809	NM_018979.4(WNK1):c.363G>T (p.Arg121=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +1 more	GLikely benign
Select item 1933175	NM_018979.4(WNK1):c.372C>T (p.Thr124=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2939338	NM_018979.4(WNK1):c.374T>A (p.Val125Glu)	WNK1 (V125E)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1129197	NM_018979.4(WNK1):c.375G>A (p.Val125=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2935230	NM_018979.4(WNK1):c.378C>T (p.Thr126=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2027742	NM_018979.4(WNK1):c.378C>A (p.Thr126=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2180627	NM_018979.4(WNK1):c.382A>G (p.Thr128Ala)	WNK1 (T128A)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 538506	NM_018979.4(WNK1):c.385G>T (p.Ala129Ser)	WNK1 (A129S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1023628	NM_018979.4(WNK1):c.392C>G (p.Ser131Cys)	WNK1 (S131C)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance

<< First< Prev

Page of 16