"Natera, Inc."[submitter] AND "SLC12A3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319887	NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 562448	NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)	SLC12A3 (A13P)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GConflicting classifications of pathogenicity
Select item 851316	NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs)	SLC12A3 (F20fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1256470	NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His)	SLC12A3 (R19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 319888	NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)	SLC12A3 (S27R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 744822	NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign/Likely benign
Select item 101514	NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	SLC12A3 (T60M)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 653276	NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)	SLC12A3 (R80fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 632258	NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	SLC12A3 (R83Q)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 255886	NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)	SLC12A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 653275	NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr)	SLC12A3 (H90Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 448955	NM_001126108.2(SLC12A3):c.283del (p.Gln95fs)	SLC12A3 (Q95fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 712199	NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=)	SLC12A3	Single nucleotide variant (synonymous variant)	SLC12A3-related disorder +2 more	GBenign/Likely benign
Select item 1075402	NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter)	SLC12A3 (E111* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 797012	NM_001126108.2(SLC12A3):c.345T>C (p.Asp115=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752938	NM_001126108.2(SLC12A3):c.348G>A (p.Gly116=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505768	NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	SLC12A3 (E121D +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 255892	NM_001126108.2(SLC12A3):c.366A>G (p.Ala122=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 805470	NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys)	SLC12A3 (E130K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 745169	NM_001126108.2(SLC12A3):c.408C>T (p.Phe136=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710398	NM_001126108.2(SLC12A3):c.429+9G>A	SLC12A3	Single nucleotide variant (intron variant)	SLC12A3-related disorder +1 more	GBenign/Likely benign
Select item 631752	NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)	SLC12A3 (R145H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 448397	NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met)	SLC12A3 (I150M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 805471	NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)	SLC12A3 (R158W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 242798	NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)	SLC12A3 (T163M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 448398	NM_001126108.2(SLC12A3):c.506-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	SLC12A3-related disorder +2 more	GPathogenic
Select item 946546	NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs)	SLC12A3 (T179fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 648571	NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	SLC12A3 (T179K +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 817650	NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)	SLC12A3 (I184fs +1 more)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 8586	NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp)	SLC12A3 (R209W +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 805472	NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)	SLC12A3 (R208Q +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +3 more	GPathogenic
Select item 937539	NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro)	SLC12A3 (L214P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 790164	NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 958758	NM_001126108.2(SLC12A3):c.741+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 793627	NM_001126108.2(SLC12A3):c.741+8C>G	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 730141	NM_001126108.2(SLC12A3):c.742-6C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 805473	NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met)	SLC12A3 (V254M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 319894	NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 504886	NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly)	SLC12A3 (A264G +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 949583	NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs)	SLC12A3 (A272fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 985944	NM_001126108.2(SLC12A3):c.852+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia +2 more	GPathogenic/Likely pathogenic
Select item 733925	NM_001126108.2(SLC12A3):c.852+7_852+9del	SLC12A3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1069508	NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met)	SLC12A3 (T303M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 713628	NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)	SLC12A3 (E310K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 448400	NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	SLC12A3 (A313V +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1067766	NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	SLC12A3 (R320W +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 498813	NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	SLC12A3 (A322V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +4 more	GConflicting classifications of pathogenicity
Select item 790165	NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726921	NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 255876	NM_001126108.2(SLC12A3):c.1023C>T (p.Phe341=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 8592	NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	SLC12A3 (P349L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 805468	NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)	SLC12A3 (S349L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 943091	NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys)	SLC12A3 (N358K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 955659	NM_001126108.2(SLC12A3):c.1096-2A>G	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 951623	NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)	SLC12A3 (T381M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 779165	NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 437426	NM_001126108.2(SLC12A3):c.1180+1G>T	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 784624	NM_001126108.2(SLC12A3):c.1180+10C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 946522	NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer)	SLC12A3	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 448391	NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SLC12A3 (R399C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 381528	NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)	SLC12A3 (R399L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 8585	NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg)	SLC12A3 (C421R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 319900	NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586601	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SLC12A3 (G439S +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +3 more	GPathogenic
Select item 319902	NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631753	NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)	SLC12A3 (A464T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 255878	NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)	SLC12A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 255879	NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 1122980	NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys)	SLC12A3 (E484K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 642516	NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	SLC12A3 (D485N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 852297	NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter)	SLC12A3 (K496* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 445816	NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign/Likely benign
Select item 722826	NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val)	SLC12A3 (I514V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign/Likely benign
Select item 712200	NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)	SLC12A3 (I520V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1212009	NM_001126108.2(SLC12A3):c.1567+290G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 642947	NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	SLC12A3 (S555L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 665361	NM_001126108.2(SLC12A3):c.1670-191C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255880	NM_001126108.2(SLC12A3):c.1670-8T>C	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 763797	NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys)	SLC12A3 (N565K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 64415	NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=)	SLC12A3	Single nucleotide variant (synonymous variant)	SLC12A3-related disorder +1 more	GLikely benign
Select item 8591	NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)	SLC12A3 (A588V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 744676	NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1073479	NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs)	SLC12A3 (Y601fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 319907	NM_001126108.2(SLC12A3):c.1825+5G>A	SLC12A3	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 255881	NM_001126108.2(SLC12A3):c.1825+9C>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 743112	NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 562346	NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)	SLC12A3 (S615L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 255882	NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser)	SLC12A3 (N622S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 255883	NM_001126108.2(SLC12A3):c.1884G>A (p.Ser628=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 989967	NM_001126108.2(SLC12A3):c.1911C>T (p.His637=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 944812	NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys)	SLC12A3 (R641C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 397523	NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	SLC12A3 (R642G +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 319909	NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)	SLC12A3 (R642H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1073480	NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs)	SLC12A3 (Q643fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 740614	NM_001126108.2(SLC12A3):c.1932G>A (p.Gln644=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64416	NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 840885	NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)	SLC12A3 (R655C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 319910	NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319911	NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989968	NM_001126108.2(SLC12A3):c.2025C>G (p.Gly675=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance

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