Related gene-specific medical variations for Gene (Select 6559) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362450	NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)	SLC12A3 (A468V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3361131	NM_001126108.2(SLC12A3):c.180dup (p.Ile61fs)	SLC12A3 (I61fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3243584	NC_000016.9:g.(?_56919896)_(56920945_?)del	SLC12A3	Deletion	not provided	GLikely pathogenic
Select item 3243583	NC_000016.9:g.(?_56916362)_(56921907_?)del	SLC12A3	Deletion	not provided	GPathogenic
Select item 3243581	NC_000016.9:g.(?_56897677)_(56906303_?)del	SLC12A3	Deletion	not provided	GPathogenic
Select item 3243580	NC_000016.9:g.(?_56919157)_(56933548_?)dup	SLC12A3	Duplication	not provided	GLikely pathogenic
Select item 3243579	NC_000016.9:g.(?_56917941)_(56933548_?)dup	SLC12A3	Duplication	not provided	GLikely pathogenic
Select item 3243578	NC_000016.9:g.(?_56911969)_(56913581_?)del	SLC12A3	Deletion	not provided	GPathogenic
Select item 3243577	NC_000016.9:g.(?_56911969)_(56913159_?)del	SLC12A3	Deletion	not provided	GPathogenic
Select item 3243576	NC_000016.9:g.(?_56917770)_(56921963_?)del	SLC12A3	Deletion	not provided	GPathogenic
Select item 3236185	NM_001126108.2(SLC12A3):c.2925-1G>A	LOC126862361, SLC12A3	Single nucleotide variant (splice acceptor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 2993297	NM_001126108.2(SLC12A3):c.2925-18C>T	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982111	NM_001126108.2(SLC12A3):c.2955C>A (p.Cys985Ter)	LOC126862361, SLC12A3 (C984* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2911052	NM_001126108.2(SLC12A3):c.2925-11A>G	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848950	NM_001126108.2(SLC12A3):c.2979G>A (p.Trp993Ter)	LOC126862361, SLC12A3 (W1001* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2839057	NM_001126108.2(SLC12A3):c.2925-9G>A	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828083	NM_001126108.2(SLC12A3):c.2978G>A (p.Trp993Ter)	LOC126862361, SLC12A3 (W1002* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2826661	NM_001126108.2(SLC12A3):c.2952G>A (p.Lys984=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787159	NM_001126108.2(SLC12A3):c.2925-7C>T	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780349	NM_001126108.2(SLC12A3):c.2938G>T (p.Gly980Trp)	LOC126862361, SLC12A3 (G979W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2759408	NM_001126108.2(SLC12A3):c.3063dup (p.Ter1022ValextTer?)	LOC126862361, SLC12A3	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2753818	NM_001126108.2(SLC12A3):c.2925-19A>C	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746915	NM_001126108.2(SLC12A3):c.2925-19A>G	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745036	NM_001126108.2(SLC12A3):c.2964G>C (p.Ser988=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737826	NM_001126108.2(SLC12A3):c.2925-13del	LOC126862361, SLC12A3	Deletion (intron variant)	not provided	GBenign
Select item 2736357	NM_001126108.2(SLC12A3):c.2979del (p.Trp993fs)	LOC126862361, SLC12A3 (W1001fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2732553	NM_001126108.2(SLC12A3):c.3043G>A (p.Val1015Met)	LOC126862361, SLC12A3 (V1015M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2502436	NM_001126108.2(SLC12A3):c.2522-18G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 2435968	NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)	SLC12A3 (I191T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2201973	NM_001126108.2(SLC12A3):c.2925-17T>C	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2137833	NM_001126108.2(SLC12A3):c.2979G>C (p.Trp993Cys)	LOC126862361, SLC12A3 (W1001C +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2044734	NM_001126108.2(SLC12A3):c.3057C>T (p.Tyr1019=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029868	NM_001126108.2(SLC12A3):c.3048C>T (p.Leu1016=)	SLC12A3, LOC126862361	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029034	NM_001126108.2(SLC12A3):c.3024C>A (p.Ile1008=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013754	NM_001126108.2(SLC12A3):c.2977T>C (p.Trp993Arg)	LOC126862361, SLC12A3 (W1002R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1981622	NM_001126108.2(SLC12A3):c.3041del (p.Asn1014fs)	LOC126862361, SLC12A3 (N1014fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1942880	NM_001126108.2(SLC12A3):c.3065A>G (p.Ter1022=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936284	NM_001126108.2(SLC12A3):c.2978G>T (p.Trp993Leu)	LOC126862361, SLC12A3 (W1002L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1723433	NM_000339.2:c.(?_-30)_885del	SLC12A3	Deletion	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1707171	NM_001126108.2(SLC12A3):c.2925-45G>A	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1684186	NM_001126108.2(SLC12A3):c.2925-33A>G	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684180	NM_001126108.2(SLC12A3):c.3056A>G (p.Tyr1019Cys)	LOC126862361, SLC12A3 (Y1019C +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1661523	NM_001126108.2(SLC12A3):c.2943G>A (p.Arg981=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590351	NM_001126108.2(SLC12A3):c.2925-10T>C	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1458246	NM_001126108.2(SLC12A3):c.3050C>T (p.Thr1017Ile)	LOC126862361, SLC12A3 (T1025I +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1421727	NM_001126108.2(SLC12A3):c.2925-10T>A	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1330271	NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly)	SLC12A3 (E239G +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1325074	NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs)	SLC12A3 (N327fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1257627	NM_001126108.2(SLC12A3):c.2925-270G>C	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1256469	NM_001126108.2(SLC12A3):c.1756_1776dup (p.Trp586_Ala592dup)	SLC12A3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1256468	NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly)	SLC12A3 (C420G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1229810	NM_001126108.2(SLC12A3):c.2857-63G>A	MIR6863, SLC12A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1194439	NM_001126108.2(SLC12A3):c.2857-120A>G	MIR6863, SLC12A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1186547	NM_001126108.2(SLC12A3):c.2857-122G>A	SLC12A3, MIR6863	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1184457	NM_001126108.2(SLC12A3):c.505+5G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1160680	NM_001126108.2(SLC12A3):c.3051C>A (p.Thr1017=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156546	NM_001126108.2(SLC12A3):c.3003C>T (p.Leu1001=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153749	NM_001126108.2(SLC12A3):c.2988C>T (p.Thr996=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139212	NM_001126108.2(SLC12A3):c.3012A>G (p.Pro1004=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136084	NM_001126108.2(SLC12A3):c.2949G>C (p.Gly983=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124613	NM_001126108.2(SLC12A3):c.2934C>T (p.Pro978=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123817	NM_001126108.2(SLC12A3):c.2955C>T (p.Cys985=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107759	NM_001126108.2(SLC12A3):c.3015C>T (p.Val1005=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094488	NM_001126108.2(SLC12A3):c.2964G>T (p.Ser988=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088795	NM_001126108.2(SLC12A3):c.3042C>T (p.Asn1014=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994772	NM_001126108.2(SLC12A3):c.602-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 989969	NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys)	SLC12A3 (M933K +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 989968	NM_001126108.2(SLC12A3):c.2025C>G (p.Gly675=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 988172	NM_000339.2:c.(2951+1_2952-1)_(*1_?)del	SLC12A3	Deletion	Bartter syndrome +1 more	GPathogenic
Select item 946107	NM_001126108.2(SLC12A3):c.2963_2966dup (p.Tyr990fs)	LOC126862361, SLC12A3 (Y990fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 887673	NM_001126108.2(SLC12A3):c.*53A>G	LOC126862361, SLC12A3	Single nucleotide variant (3 prime UTR variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 887672	NM_001126108.2(SLC12A3):c.*18C>G	LOC126862361, SLC12A3	Single nucleotide variant (3 prime UTR variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 887671	NM_001126108.2(SLC12A3):c.2972T>C (p.Met991Thr)	LOC126862361, SLC12A3 (M999T +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 887482	NM_001126108.2(SLC12A3):c.2930T>C (p.Leu977Ser)	LOC126862361, SLC12A3 (L977S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 835523	NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)	LOC126862361, SLC12A3 (R1009* +2 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 793843	NM_001126108.2(SLC12A3):c.2961C>T (p.Ser987=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 792570	NM_001126108.2(SLC12A3):c.2937A>T (p.Ile979=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781206	NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign/Likely benign
Select item 594235	NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln)	LOC126862361, SLC12A3 (R1018Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 586607	NM_001126108.2(SLC12A3):c.1669+5G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 586606	NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg)	SLC12A3, LOC126862361 (Q1030R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586605	NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	LOC126862361, SLC12A3 (G989R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 562292	NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys)	SLC12A3 (E884K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 448396	NM_001126108.2(SLC12A3):c.2963C>T (p.Ser988Leu)	LOC126862361, SLC12A3 (S997L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 448395	NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	LOC126862361, SLC12A3 (C994Y +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 319925	NM_001126108.2(SLC12A3):c.*209T>A	LOC126862361, SLC12A3	Single nucleotide variant (3 prime UTR variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 319924	NM_001126108.2(SLC12A3):c.*205A>G	LOC126862361, SLC12A3	Single nucleotide variant (3 prime UTR variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign
Select item 319923	NM_001126108.2(SLC12A3):c.*102T>C	LOC126862361, SLC12A3	Single nucleotide variant (3 prime UTR variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 319922	NM_001126108.2(SLC12A3):c.2987C>A (p.Thr996Asn)	LOC126862361, SLC12A3 (T1005N +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 319921	NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 279587	NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer)	SLC12A3	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 267287	NM_001126108.2(SLC12A3):c.1849C>T (p.Gln617Ter)	SLC12A3 (Q617* +1 more)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 64419	NM_001126108.2(SLC12A3):c.861G>T (p.Val287=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64414	NM_001126108.2(SLC12A3):c.1429G>A (p.Ala477Thr)	SLC12A3 (A477T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 95