"GeneDx"[submitter] AND "SLC12A3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1226928	NC_000016.10:g.56865094C>T	SLC12A3	Single nucleotide variant	not provided	GBenign
Select item 1248945	NC_000016.10:g.56865095G>C	SLC12A3	Single nucleotide variant	not provided	GBenign
Select item 1702658	NM_001126108.2(SLC12A3):c.5C>G (p.Ala2Gly)	SLC12A3 (A2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817609	NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)	SLC12A3 (T7fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 562448	NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)	SLC12A3 (A13P)	Single nucleotide variant (missense variant)	not provided +2 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 3343630	NM_001126108.2(SLC12A3):c.143G>A (p.Ser48Asn)	SLC12A3 (S48N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 888552	NM_001126108.2(SLC12A3):c.161G>A (p.Arg54His)	SLC12A3 (R54H)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
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 844075	NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn)	SLC12A3 (D62N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3338806	NM_001126108.2(SLC12A3):c.187GTG[1] (p.Val64del)	SLC12A3 (V64del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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 1208183	NM_001126108.2(SLC12A3):c.282+79T>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210821	NM_001126108.2(SLC12A3):c.282+111G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202005	NM_001126108.2(SLC12A3):c.282+124G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279843	NM_001126108.2(SLC12A3):c.283-51C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448955	NM_001126108.2(SLC12A3):c.283del (p.Gln95fs)	SLC12A3 (Q95fs)	Deletion (frameshift variant +1 more)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1691214	NM_001126108.2(SLC12A3):c.286G>C (p.Glu96Gln)	SLC12A3 (E95Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712199	NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign/Likely benign
Select item 1301842	NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp)	SLC12A3 (R107W +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 1308886	NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln)	SLC12A3 (E111Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1314308	NM_001126108.2(SLC12A3):c.360C>T (p.Gly120=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 1068374	NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)	SLC12A3 (R134C +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GConflicting classifications of pathogenicity
Select item 1274743	NM_001126108.2(SLC12A3):c.429+160A>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
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 429782	NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)	SLC12A3 (I154F +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 647629	NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)	SLC12A3 (R157Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 939124	NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)	SLC12A3 (W160* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 242798	NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)	SLC12A3 (T163M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 3252869	NM_001126108.2(SLC12A3):c.497C>T (p.Ala166Val)	SLC12A3 (A165V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1283580	NM_001126108.2(SLC12A3):c.506-289G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448398	NM_001126108.2(SLC12A3):c.506-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1285185	NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)	SLC12A3 (W171R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 817650	NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)	SLC12A3 (I184fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1300531	NM_001126108.2(SLC12A3):c.602-53A>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190437	NM_001126108.2(SLC12A3):c.741+63C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 319894	NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +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)	not provided +2 more	GBenign
Select item 2223652	NM_001126108.2(SLC12A3):c.803T>A (p.Val268Asp)	SLC12A3 (V267D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1235197	NM_001126108.2(SLC12A3):c.852+117dup	SLC12A3	Duplication (intron variant)	not provided	GBenign
Select item 1209365	NM_001126108.2(SLC12A3):c.852+130C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266708	NM_001126108.2(SLC12A3):c.852+224G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277978	NM_001126108.2(SLC12A3):c.853-257C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1454114	NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val)	SLC12A3 (G315V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454113	NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)	SLC12A3 (G316A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1300487	NM_001126108.2(SLC12A3):c.965-79G>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 498813	NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)	SLC12A3 (A322V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1706235	NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)	SLC12A3 (R333Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 886363	NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp)	SLC12A3 (N359D +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1262222	NM_001126108.2(SLC12A3):c.1095+255del	SLC12A3	Deletion (intron variant)	not provided	GBenign
Select item 1199446	NM_001126108.2(SLC12A3):c.1096-133G>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214089	NM_001126108.2(SLC12A3):c.1096-29_1096-6del	SLC12A3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186734	NM_001126108.2(SLC12A3):c.1096-42T>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238614	NM_001126108.2(SLC12A3):c.1096-32T>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238379	NM_001126108.2(SLC12A3):c.1096-28T>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419448	NM_001126108.2(SLC12A3):c.1126del (p.Leu376fs)	SLC12A3 (L375fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 specified +2 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 1233940	NM_001126108.2(SLC12A3):c.1181-82C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
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 381528	NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)	SLC12A3 (R399L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 319899	NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys)	SLC12A3 (E417K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1458231	NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)	SLC12A3 (C421Y +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1977458	NM_001126108.2(SLC12A3):c.1288T>A (p.Cys430Ser)	SLC12A3 (C430S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 586601	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SLC12A3 (G439S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1297510	NM_001126108.2(SLC12A3):c.1335+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1184680	NM_001126108.2(SLC12A3):c.1336-35C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 319903	NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	SLC12A3 (G463R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 255879	NM_001126108.2(SLC12A3):c.1395C>T (p.Thr465=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1326401	NM_001126108.2(SLC12A3):c.1444-190T>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263396	NM_001126108.2(SLC12A3):c.1444-167G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195399	NM_001126108.2(SLC12A3):c.1444-154G>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280046	NM_001126108.2(SLC12A3):c.1444-17G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 642516	NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	SLC12A3 (D485N +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 988205	NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys)	SLC12A3 (G495C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1250537	NM_001126108.2(SLC12A3):c.1567+190C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212009	NM_001126108.2(SLC12A3):c.1567+290G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275968	NM_001126108.2(SLC12A3):c.1567+393A>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231453	NM_001126108.2(SLC12A3):c.1567+563C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276149	NM_001126108.2(SLC12A3):c.1568-333del	SLC12A3	Deletion (intron variant)	not provided	GBenign
Select item 1261572	NM_001126108.2(SLC12A3):c.1568-334_1568-333del	SLC12A3	Deletion (intron variant)	not provided	GBenign
Select item 1331323	NM_001126108.2(SLC12A3):c.1637G>A (p.Ser546Asn)	SLC12A3 (S545N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1684161	NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr)	SLC12A3 (A549T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GUncertain significance
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 2500359	NM_001126108.2(SLC12A3):c.1666C>T (p.Pro556Ser)	SLC12A3 (P555S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190502	NM_001126108.2(SLC12A3):c.1669+49A>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174335	NM_001126108.2(SLC12A3):c.1670-503C>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 665361	NM_001126108.2(SLC12A3):c.1670-191C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1283845	NM_001126108.2(SLC12A3):c.1670-111G>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255880	NM_001126108.2(SLC12A3):c.1670-8T>C	SLC12A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2574798	NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp)	SLC12A3 (P559D +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 225468	NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val)	SLC12A3 (A569V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 225469	NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)	SLC12A3 (V578M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1073478	NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys)	SLC12A3 (M580K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 280024	NM_001126108.2(SLC12A3):c.1743del (p.Met581fs)	SLC12A3 (M580fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic

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