ClinVar for Gene (Select 6559) - ClinVar - NCBI

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	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 3352616	NM_001126108.2(SLC12A3):c.1096-25_1096-6dup	SLC12A3	Duplication (intron variant)	SLC12A3-related disorder	GLikely benign
Select item 3351941	NM_001126108.2(SLC12A3):c.530T>C (p.Leu177Pro)	SLC12A3 (L176P +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder	GUncertain significance
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 3339602	NM_001126108.2(SLC12A3):c.1608C>G (p.Phe536Leu)	SLC12A3 (F535L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339360	NM_001126108.2(SLC12A3):c.2014A>C (p.Met672Leu)	SLC12A3 (M671L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338806	NM_001126108.2(SLC12A3):c.187GTG[1] (p.Val64del)	SLC12A3 (V64del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3337588	NM_001126108.2(SLC12A3):c.1519C>T (p.Arg507Cys)	SLC12A3 (R506C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336574	NM_001126108.2(SLC12A3):c.2186G>C (p.Gly729Ala)	SLC12A3 (G728A +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3336569	NM_001126108.2(SLC12A3):c.1850A>G (p.Gln617Arg)	SLC12A3 (Q616R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3336528	NM_001126108.2(SLC12A3):c.505+6dup	SLC12A3	Duplication (intron variant)	not specified	GUncertain significance
Select item 3336523	NM_001126108.2(SLC12A3):c.1391C>T (p.Ala464Val)	SLC12A3 (A463V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335982	NM_001126108.2(SLC12A3):c.1669+297T>G	SLC12A3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3318810	NM_001126108.2(SLC12A3):c.2447A>G (p.Glu816Gly)	SLC12A3 (E816G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318809	NM_001126108.2(SLC12A3):c.1652C>G (p.Ser551Cys)	SLC12A3 (S550C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318808	NM_001126108.2(SLC12A3):c.2665G>A (p.Gly889Arg)	SLC12A3 (G888R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256662	NM_001126108.2(SLC12A3):c.1984G>T (p.Val662Leu)	SLC12A3 (V661L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3256613	NM_001126108.2(SLC12A3):c.1015A>C (p.Thr339Pro)	SLC12A3 (T338P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3255059	NM_001126108.2(SLC12A3):c.1684_1696del (p.Phe562fs)	SLC12A3 (F561fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 3254909	NM_001126108.2(SLC12A3):c.1178T>A (p.Ile393Asn)	SLC12A3 (I392N +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3254908	NM_001126108.2(SLC12A3):c.599C>G (p.Ser200Ter)	SLC12A3 (S199* +1 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 3254906	NM_001126108.2(SLC12A3):c.2652C>G (p.Ser884Arg)	SLC12A3 (S883R +3 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
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 3251710	NM_001126108.2(SLC12A3):c.1058G>C (p.Gly353Ala)	SLC12A3 (G352A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251704	NM_001126108.2(SLC12A3):c.2644C>G (p.Leu882Val)	SLC12A3 (L881V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251348	NM_001126108.2(SLC12A3):c.1132G>A (p.Ala378Thr)	SLC12A3 (A377T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251290	NM_001126108.2(SLC12A3):c.971T>A (p.Ile324Asn)	SLC12A3 (I323N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248533	NM_001126108.2(SLC12A3):c.2420-80G>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3248532	NM_001126108.2(SLC12A3):c.1420G>T (p.Val474Phe)	SLC12A3 (V473F +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
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 3242433	NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg)	SLC12A3 (G140R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3236716	NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val)	SLC12A3 (G438V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
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 3236146	NM_001126108.2(SLC12A3):c.634G>C (p.Gly212Arg)	SLC12A3 (G211R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3233922	NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)	SLC12A3 (L699P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 3162849	NM_001126108.2(SLC12A3):c.872T>A (p.Leu291His)	SLC12A3 (L290H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162848	NM_001126108.2(SLC12A3):c.859G>A (p.Val287Met)	SLC12A3 (V286M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162847	NM_001126108.2(SLC12A3):c.787A>G (p.Ile263Val)	SLC12A3 (I262V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162846	NM_001126108.2(SLC12A3):c.733C>A (p.Leu245Met)	SLC12A3 (L245M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162844	NM_001126108.2(SLC12A3):c.689G>A (p.Gly230Asp)	SLC12A3 (G230D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162843	NM_001126108.2(SLC12A3):c.2692G>A (p.Asp898Asn)	SLC12A3 (D907N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162842	NM_001126108.2(SLC12A3):c.2489C>T (p.Thr830Ile)	SLC12A3 (T830I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162841	NM_001126108.2(SLC12A3):c.2480G>A (p.Gly827Asp)	SLC12A3 (G826D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162839	NM_001126108.2(SLC12A3):c.1999C>T (p.Arg667Trp)	SLC12A3 (R666W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162838	NM_001126108.2(SLC12A3):c.1891C>G (p.Leu631Val)	SLC12A3 (L631V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162837	NM_001126108.2(SLC12A3):c.164C>T (p.Thr55Ile)	SLC12A3 (T55I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162835	NM_001126108.2(SLC12A3):c.1240G>A (p.Gly414Ser)	SLC12A3 (G413S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068861	NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs)	SLC12A3 (W938fs +3 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 3068413	NM_001126108.2(SLC12A3):c.1825+1G>C	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3068357	NM_001126108.2(SLC12A3):c.447C>G (p.Asn149Lys)	SLC12A3 (N148K +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3066173	NM_001126108.2(SLC12A3):c.1568-12G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3051126	NM_001126108.2(SLC12A3):c.424G>T (p.Val142Leu)	SLC12A3 (V141L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050092	NM_001126108.2(SLC12A3):c.1670-190G>A	SLC12A3	Single nucleotide variant (intron variant)	SLC12A3-related disorder	GLikely benign
Select item 3033329	NM_001126108.2(SLC12A3):c.1096-42_1096-7del	SLC12A3	Deletion (intron variant)	SLC12A3-related disorder	GLikely benign
Select item 3032120	NM_001126108.2(SLC12A3):c.1568-5C>G	SLC12A3	Single nucleotide variant (intron variant)	SLC12A3-related disorder	GLikely benign
Select item 3023859	NM_001126108.2(SLC12A3):c.1096-21_1096-6del	SLC12A3	Deletion (intron variant)	not provided	GLikely benign
Select item 3023089	NM_001126108.2(SLC12A3):c.741+14G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018901	NM_001126108.2(SLC12A3):c.430-16C>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017711	NM_001126108.2(SLC12A3):c.853-19G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016953	NM_001126108.2(SLC12A3):c.1767C>T (p.Ala589=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015177	NM_001126108.2(SLC12A3):c.2634-19C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013986	NM_001126108.2(SLC12A3):c.430-11del	SLC12A3	Deletion (intron variant)	not provided	GLikely benign
Select item 3013569	NM_001126108.2(SLC12A3):c.2368+14C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012288	NM_001126108.2(SLC12A3):c.765C>T (p.Asp255=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012222	NM_001126108.2(SLC12A3):c.2721-12T>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011005	NM_001126108.2(SLC12A3):c.852+18G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009209	NM_001126108.2(SLC12A3):c.742-13T>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007941	NM_001126108.2(SLC12A3):c.1181-19C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007580	NM_001126108.2(SLC12A3):c.2449C>T (p.Gln817Ter)	SLC12A3 (Q826* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3007573	NM_001126108.2(SLC12A3):c.2419+42T>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006502	NM_001126108.2(SLC12A3):c.1180+17G>C	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005340	NM_001126108.2(SLC12A3):c.1798C>T (p.Leu600=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005130	NM_001126108.2(SLC12A3):c.2276del (p.Gly759fs)	SLC12A3 (G758fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3004075	NM_001126108.2(SLC12A3):c.2818A>T (p.Lys940Ter)	SLC12A3 (K948* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3003203	NM_001126108.2(SLC12A3):c.1095+1G>C	SLC12A3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3002829	NM_001126108.2(SLC12A3):c.2522-18G>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002190	NM_001126108.2(SLC12A3):c.1443+8C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002064	NM_001126108.2(SLC12A3):c.2739C>T (p.Asp913=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000407	NM_001126108.2(SLC12A3):c.1444-20T>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997978	NM_001126108.2(SLC12A3):c.528G>T (p.Leu176=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996802	NM_001126108.2(SLC12A3):c.1245C>T (p.Ala415=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996763	NM_001126108.2(SLC12A3):c.1926-8C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995505	NM_001126108.2(SLC12A3):c.2634-18C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994893	NM_001126108.2(SLC12A3):c.852+19A>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994742	NM_001126108.2(SLC12A3):c.2521+14T>G	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994119	NM_001126108.2(SLC12A3):c.1669+12C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993297	NM_001126108.2(SLC12A3):c.2925-18C>T	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992946	NM_001126108.2(SLC12A3):c.430-19_430-4dup	SLC12A3	Duplication (intron variant)	not provided	GLikely benign

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