SLC12A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 945564	NM_000339.2(SLC12A3):c.-1471_894del	LOC130059053, LOC130059054 +1 more	Deletion	not provided	GPathogenic
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 2760580	NC_000016.10:g.56865169_56865258del	SLC12A3	Deletion	not provided	GPathogenic
Select item 319886	NM_001126108.2(SLC12A3):c.-5C>T	SLC12A3	Single nucleotide variant (5 prime UTR variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684155	NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val)	SLC12A3 (M1V)	Single nucleotide variant (missense variant +1 more)	Familial hypokalemia-hypomagnesemia	GPathogenic
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 1907180	NM_001126108.2(SLC12A3):c.10C>T (p.Leu4=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1134782	NM_001126108.2(SLC12A3):c.15C>T (p.Pro5=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817609	NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)	SLC12A3 (T7fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1151122	NM_001126108.2(SLC12A3):c.27G>A (p.Thr9=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139499	NM_001126108.2(SLC12A3):c.27G>T (p.Thr9=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055593	NM_001126108.2(SLC12A3):c.30T>G (p.Pro10=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 975084	NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs)	SLC12A3 (D12fs)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
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 2188906	NM_001126108.2(SLC12A3):c.37G>A (p.Ala13Thr)	SLC12A3 (A13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562448	NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)	SLC12A3 (A13P)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 887301	NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser)	SLC12A3 (T14S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339518	NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)	SLC12A3 (L15fs)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1103773	NM_001126108.2(SLC12A3):c.42T>G (p.Thr14=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110434	NM_001126108.2(SLC12A3):c.43T>C (p.Leu15=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1459093	NM_001126108.2(SLC12A3):c.46_47del (p.Cys16fs)	SLC12A3 (C16fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1144969	NM_001126108.2(SLC12A3):c.45G>A (p.Leu15=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148886	NM_001126108.2(SLC12A3):c.51C>A (p.Ser17Arg)	SLC12A3 (S17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 795280	NM_001126108.2(SLC12A3):c.51C>T (p.Ser17=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1535433	NM_001126108.2(SLC12A3):c.54G>A (p.Gly18=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1076450	NM_001126108.2(SLC12A3):c.55del (p.Arg19fs)	SLC12A3 (R19fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 813955	NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys)	SLC12A3 (R19C)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely 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 2039865	NM_001126108.2(SLC12A3):c.66C>T (p.Ile22=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684159	NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile)	SLC12A3 (T24I)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1146273	NM_001126108.2(SLC12A3):c.72A>G (p.Thr24=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 448399	NM_001126108.2(SLC12A3):c.73del (p.Leu25fs)	SLC12A3 (L25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1667606	NM_001126108.2(SLC12A3):c.78G>A (p.Leu26=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1385271	NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter)	SLC12A3 (E30*)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
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 1609180	NM_001126108.2(SLC12A3):c.99A>G (p.Pro33=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135546	NM_001126108.2(SLC12A3):c.102A>G (p.Pro34=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142853	NM_001126108.2(SLC12A3):c.106G>T (p.Ala36Ser)	SLC12A3 (A36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1127121	NM_001126108.2(SLC12A3):c.126C>G (p.Pro42=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155532	NM_001126108.2(SLC12A3):c.136A>G (p.Thr46Ala)	SLC12A3 (T46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543136	NM_001126108.2(SLC12A3):c.138C>A (p.Thr46=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905907	NM_001126108.2(SLC12A3):c.150C>T (p.Thr50=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456538	NM_001126108.2(SLC12A3):c.157del (p.Met53fs)	SLC12A3 (M53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1684163	NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)	SLC12A3 (R54C)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 888552	NM_001126108.2(SLC12A3):c.161G>A (p.Arg54His)	SLC12A3 (R54H)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2047260	NM_001126108.2(SLC12A3):c.162C>T (p.Arg54=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812296	NM_001126108.2(SLC12A3):c.165C>A (p.Thr55=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982190	NM_001126108.2(SLC12A3):c.165C>T (p.Thr55=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 101514	NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	SLC12A3 (T60M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2063000	NM_001126108.2(SLC12A3):c.181_190del (p.Ile61fs)	SLC12A3 (I61fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1583170	NM_001126108.2(SLC12A3):c.180G>A (p.Thr60=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560260	NM_001126108.2(SLC12A3):c.180G>C (p.Thr60=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615345	NM_001126108.2(SLC12A3):c.183C>T (p.Ile61=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137813	NM_001126108.2(SLC12A3):c.184G>C (p.Asp62His)	SLC12A3 (D62H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 844075	NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn)	SLC12A3 (D62N)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 2834764	NM_001126108.2(SLC12A3):c.185A>T (p.Asp62Val)	SLC12A3 (D62V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137814	NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly)	SLC12A3 (D62G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1543831	NM_001126108.2(SLC12A3):c.189G>A (p.Val63=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731684	NM_001126108.2(SLC12A3):c.198A>T (p.Thr66=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684169	NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter)	SLC12A3 (Y67*)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 2754351	NM_001126108.2(SLC12A3):c.204G>A (p.Glu68=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573394	NM_001126108.2(SLC12A3):c.205C>A (p.His69Asn)	SLC12A3 (H69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1903857	NM_001126108.2(SLC12A3):c.205C>T (p.His69Tyr)	SLC12A3 (H69Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1078458	NM_001126108.2(SLC12A3):c.207C>T (p.His69=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1144535	NM_001126108.2(SLC12A3):c.216C>T (p.Asn72=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160324	NM_001126108.2(SLC12A3):c.234G>A (p.Glu78=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 653276	NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)	SLC12A3 (R80fs)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1942674	NM_001126108.2(SLC12A3):c.237C>T (p.Pro79=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137206	NM_001126108.2(SLC12A3):c.240G>C (p.Arg80=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 319889	NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	SLC12A3 (R83W)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
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 1933427	NM_001126108.2(SLC12A3):c.252C>T (p.Pro84=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835396	NM_001126108.2(SLC12A3):c.255A>T (p.Thr85=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158641	NM_001126108.2(SLC12A3):c.255A>G (p.Thr85=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614372	NM_001126108.2(SLC12A3):c.258G>T (p.Leu86=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979228	NM_001126108.2(SLC12A3):c.261T>C (p.Ala87=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139502	NM_001126108.2(SLC12A3):c.267G>A (p.Leu89=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 653275	NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr)	SLC12A3 (H90Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1671841	NM_001126108.2(SLC12A3):c.270C>T (p.His90=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522471	NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro)	SLC12A3 (S91P)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1559285	NM_001126108.2(SLC12A3):c.282+7G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1077790	NM_001126108.2(SLC12A3):c.282+10G>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909944	NM_001126108.2(SLC12A3):c.282+16G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890509	NM_001126108.2(SLC12A3):c.282+20A>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1684174	NM_001126108.2(SLC12A3):c.283-435_283-384dup	SLC12A3	Duplication (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1279843	NM_001126108.2(SLC12A3):c.283-51C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990622	NM_001126108.2(SLC12A3):c.283-17_283-15del	SLC12A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2737564	NM_001126108.2(SLC12A3):c.283-19G>T	SLC12A3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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