"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC12A3"[ - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3051126	NM_001126108.2(SLC12A3):c.424G>T (p.Val142Leu)	SLC12A3 (V141L +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder	GUncertain significance
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 1142090	NM_001126108.2(SLC12A3):c.450T>C (p.Ile150=)	SLC12A3	Single nucleotide variant (synonymous variant)	SLC12A3-related disorder +1 more	GLikely benign
Select item 448398	NM_001126108.2(SLC12A3):c.506-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided +2 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 730141	NM_001126108.2(SLC12A3):c.742-6C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 448400	NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	SLC12A3 (A313V +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2059379	NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)	SLC12A3 (R334W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2576610	NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)	SLC12A3 (A355V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 3033329	NM_001126108.2(SLC12A3):c.1096-42_1096-7del	SLC12A3	Deletion (intron variant)	SLC12A3-related disorder	GLikely benign
Select item 1114849	NM_001126108.2(SLC12A3):c.1164C>T (p.Ala388=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 255877	NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile)	SLC12A3 (V404I +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign/Likely benign
Select item 1328532	NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr)	SLC12A3 (A419T +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +3 more	GUncertain significance
Select item 1458231	NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)	SLC12A3 (C421Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1100122	NM_001126108.2(SLC12A3):c.1368G>A (p.Leu456=)	SLC12A3	Single nucleotide variant (synonymous variant)	SLC12A3-related disorder +1 more	GLikely benign
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 3032120	NM_001126108.2(SLC12A3):c.1568-5C>G	SLC12A3	Single nucleotide variant (intron variant)	SLC12A3-related disorder	GLikely benign
Select item 2630208	NM_001126108.2(SLC12A3):c.1640G>T (p.Cys547Phe)	SLC12A3 (C546F +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder	GUncertain significance
Select item 2158226	NM_001126108.2(SLC12A3):c.1670-191C>G	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 665361	NM_001126108.2(SLC12A3):c.1670-191C>T	SLC12A3	Single nucleotide variant (intron variant)	SLC12A3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3050092	NM_001126108.2(SLC12A3):c.1670-190G>A	SLC12A3	Single nucleotide variant (intron variant)	SLC12A3-related disorder	GLikely benign
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 2636527	NM_001126108.2(SLC12A3):c.1670-1G>C	SLC12A3	Single nucleotide variant (splice acceptor variant)	SLC12A3-related disorder	GLikely pathogenic
Select item 886416	NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val)	SLC12A3 (A569V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +4 more	GUncertain significance
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 225469	NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)	SLC12A3 (V578M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +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 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 255884	NM_001126108.2(SLC12A3):c.2142C>T (p.Ala714=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 255885	NM_001126108.2(SLC12A3):c.2179-8C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 791335	NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +3 more	GBenign/Likely benign
Select item 208612	NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SLC12A3 (G741R +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1106508	NM_001126108.2(SLC12A3):c.2419+8G>A	SLC12A3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1097427	NM_001126108.2(SLC12A3):c.2434C>T (p.Leu812=)	SLC12A3	Single nucleotide variant (synonymous variant)	SLC12A3-related disorder +1 more	GLikely benign
Select item 1684172	NM_001126108.2(SLC12A3):c.2521+255G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 8584	NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	SLC12A3 (L850P +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1143636	NM_001126108.2(SLC12A3):c.2595A>C (p.Val865=)	SLC12A3	Single nucleotide variant (synonymous variant)	SLC12A3-related disorder +1 more	GLikely benign
Select item 255887	NM_001126108.2(SLC12A3):c.2598C>T (p.Gly866=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 255888	NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln)	SLC12A3 (R913Q +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 255889	NM_001126108.2(SLC12A3):c.2721-13T>C	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 255890	NM_001126108.2(SLC12A3):c.2857-17G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GBenign
Select item 319920	NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile)	SLC12A3 (V983I +2 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +3 more	GUncertain significance
Select item 255891	NM_001126108.2(SLC12A3):c.2924+13C>T	SLC12A3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 793843	NM_001126108.2(SLC12A3):c.2961C>T (p.Ser987=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 319921	NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	SLC12A3-related disorder +2 more	GBenign/Likely benign
Select item 781206	NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 56