Related gene-specific medical variations for Gene (Select 6558) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162831	NM_001046.3(SLC12A2):c.64C>T (p.Pro22Ser)	LOC129994526, SLC12A2 (P22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162826	NM_001046.3(SLC12A2):c.290C>G (p.Ala97Gly)	LOC129994526, SLC12A2 (A97G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065515	NM_001046.3(SLC12A2):c.2361T>G (p.Phe787Leu)	SLC12A2 (F787L)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome	GUncertain significance
Select item 3064984	NM_001046.3(SLC12A2):c.959C>A (p.Ser320Ter)	SLC12A2 (S320*)	Single nucleotide variant (nonsense +1 more)	Kilquist syndrome	GLikely pathogenic
Select item 3064550	NM_001046.3(SLC12A2):c.2756T>C (p.Val919Ala)	SLC12A2 (V919A)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome	GUncertain significance
Select item 3064190	NM_001046.3(SLC12A2):c.2617-2A>G	SLC12A2	Single nucleotide variant (splice acceptor variant)	Kilquist syndrome	GPathogenic
Select item 3007691	NM_001046.3(SLC12A2):c.208A>C (p.Arg70=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977802	NM_001046.3(SLC12A2):c.303G>T (p.Ala101=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977797	NM_001046.3(SLC12A2):c.302_303insAGCGGCAGCGGCGGCGGC (p.Ala107_Gly108insAlaAlaAlaAlaAlaAla)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2972566	NM_001046.3(SLC12A2):c.227C>G (p.Pro76Arg)	LOC129994526, SLC12A2 (P76R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970878	NM_001046.3(SLC12A2):c.285_311dup (p.Ala107_Gly108insAlaAlaAlaAlaAlaAlaAlaAlaAla)	LOC129994526, SLC12A2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2970455	NM_001046.3(SLC12A2):c.211C>T (p.Pro71Ser)	LOC129994526, SLC12A2 (P71S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968184	NM_001046.3(SLC12A2):c.4G>C (p.Glu2Gln)	LOC129994526, SLC12A2 (E2Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966959	NM_001046.3(SLC12A2):c.184G>A (p.Ala62Thr)	LOC129994526, SLC12A2 (A62T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920705	NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)	SLC12A2 (D510G)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2863473	NM_001046.3(SLC12A2):c.277G>T (p.Ala93Ser)	LOC129994526, SLC12A2 (A93S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2804121	NM_001046.3(SLC12A2):c.120C>T (p.Pro40=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2727779	NM_001046.3(SLC12A2):c.288GGC[3] (p.Ala104_Ala107del)	SLC12A2, LOC129994526	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2719170	NM_001046.3(SLC12A2):c.306_320dup (p.Ala107_Gly108insAlaAlaAlaAlaAla)	SLC12A2, LOC129994526	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2711370	NM_001046.3(SLC12A2):c.289G>A (p.Ala97Thr)	LOC129994526, SLC12A2 (A97T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689994	NM_001046.3(SLC12A2):c.3627del (p.Phe1210fs)	SLC12A2 (F1194fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2655672	NM_001046.3(SLC12A2):c.208A>G (p.Arg70Gly)	LOC129994526, SLC12A2 (R70G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2604628	NM_001046.3(SLC12A2):c.196G>A (p.Asp66Asn)	LOC129994526, SLC12A2 (D66N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579148	NM_001046.3(SLC12A2):c.1444C>G (p.Arg482Gly)	SLC12A2 (R482G)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	GUncertain significance
Select item 2576139	NM_001046.3(SLC12A2):c.2263+1G>T	SLC12A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2505209	NM_001046.3(SLC12A2):c.268G>C (p.Ala90Pro)	LOC129994526, SLC12A2 (A90P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2489100	NM_001046.3(SLC12A2):c.215T>G (p.Leu72Trp)	LOC129994526, SLC12A2 (L72W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435967	NM_001046.3(SLC12A2):c.288GGC[13] (p.Ala107_Gly108insAlaAlaAlaAlaAlaAla)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2435966	NM_001046.3(SLC12A2):c.449C>T (p.Ser150Leu)	SLC12A2 (S150L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435965	NM_001046.3(SLC12A2):c.309_311del (p.Ala107del)	SLC12A2 (A107del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2428646	NM_001046.3(SLC12A2):c.672C>G (p.Ile224Met)	SLC12A2 (I224M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2405752	NM_001046.3(SLC12A2):c.243C>G (p.Phe81Leu)	LOC129994526, SLC12A2 (F81L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291011	NM_001046.3(SLC12A2):c.179G>T (p.Gly60Val)	LOC129994526, SLC12A2 (G60V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2165244	NM_001046.3(SLC12A2):c.52G>T (p.Val18Phe)	LOC129994526, SLC12A2 (V18F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2153995	NM_001046.3(SLC12A2):c.147G>C (p.Ala49=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2146972	NM_001046.3(SLC12A2):c.18G>C (p.Thr6=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2139684	NM_001046.3(SLC12A2):c.302C>T (p.Ala101Val)	LOC129994526, SLC12A2 (A101V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107290	NM_001046.3(SLC12A2):c.279C>T (p.Ala93=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2078562	NM_001046.3(SLC12A2):c.288GGC[4] (p.Ala105_Ala107del)	LOC129994526, SLC12A2	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2074717	NM_001046.3(SLC12A2):c.285T>G (p.Ala95=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069981	NM_001046.3(SLC12A2):c.309_320dup (p.Ala107_Gly108insAlaAlaAlaAla)	LOC129994526, SLC12A2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2062635	NM_001046.3(SLC12A2):c.294G>A (p.Ala98=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053048	NM_001046.3(SLC12A2):c.288GGC[9] (p.Ala107_Gly108insAlaAla)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2051934	NM_001046.3(SLC12A2):c.99A>G (p.Glu33=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2047051	NM_001046.3(SLC12A2):c.177G>T (p.Glu59Asp)	LOC129994526, SLC12A2 (E59D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043646	NM_001046.3(SLC12A2):c.288GGC[6] (p.Ala107del)	LOC129994526, SLC12A2 (A107del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2040863	NM_001046.3(SLC12A2):c.288G>T (p.Ala96=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2028447	NM_001046.3(SLC12A2):c.285_290del (p.Ala106_Ala107del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2019184	NM_001046.3(SLC12A2):c.243C>T (p.Phe81=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2019183	NM_001046.3(SLC12A2):c.190G>A (p.Ala64Thr)	LOC129994526, SLC12A2 (A64T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2012020	NM_001046.3(SLC12A2):c.127C>G (p.Pro43Ala)	LOC129994526, SLC12A2 (P43A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010944	NM_001046.3(SLC12A2):c.145G>C (p.Ala49Pro)	LOC129994526, SLC12A2 (A49P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1995084	NM_001046.3(SLC12A2):c.214T>A (p.Leu72Met)	SLC12A2, LOC129994526 (L72M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942563	NM_001046.3(SLC12A2):c.200G>A (p.Gly67Glu)	LOC129994526, SLC12A2 (G67E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921693	NM_001046.3(SLC12A2):c.297_320dup (p.Ala107_Gly108insAlaAlaAlaAlaAlaAlaAlaAla)	LOC129994526, SLC12A2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1914640	NM_001046.3(SLC12A2):c.137C>T (p.Ala46Val)	LOC129994526, SLC12A2 (A46V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1913353	NM_001046.3(SLC12A2):c.249G>A (p.Val83=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1809625	NM_001046.3(SLC12A2):c.80_103del (p.Leu27_Leu34del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1679744	NM_001046.3(SLC12A2):c.1226T>C (p.Ile409Thr)	SLC12A2 (I409T)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +1 more	GUncertain significance
Select item 1659746	NM_001046.3(SLC12A2):c.102G>A (p.Leu34=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1638143	NM_001046.3(SLC12A2):c.147G>T (p.Ala49=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1599916	NM_001046.3(SLC12A2):c.156C>G (p.Asp52Glu)	LOC129994526, SLC12A2 (D52E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1594970	NM_001046.3(SLC12A2):c.288GGC[5] (p.Ala106_Ala107del)	LOC129994526, SLC12A2	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 1568986	NM_001046.3(SLC12A2):c.159C>T (p.Gly53=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1551688	NM_001046.3(SLC12A2):c.288GGC[8] (p.Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1532036	NM_001046.3(SLC12A2):c.261C>T (p.Ser87=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1510335	NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg)	LOC129994526, SLC12A2 (S79R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1440806	NM_001046.3(SLC12A2):c.288GGC[11] (p.Ala104_Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	Kilquist syndrome +3 more	GUncertain significance
Select item 1394883	NM_001046.3(SLC12A2):c.282TGC[3] (p.Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	SLC12A2-related condition +1 more	GUncertain significance
Select item 1385353	NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	Kilquist syndrome +3 more	GUncertain significance
Select item 1365125	NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val)	LOC129994526, SLC12A2 (G14V)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +4 more	GUncertain significance
Select item 1348417	NM_001046.3(SLC12A2):c.309_317dup (p.Ala105_Ala107dup)	LOC129994526, SLC12A2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1342498	NM_001046.3(SLC12A2):c.2616+1547G>T	SLC12A2	Single nucleotide variant (intron variant)	Delpire-McNeill syndrome	GUncertain significance
Select item 1027650	NM_001046.3(SLC12A2):c.2016_2017insTAA (p.Val673Ter)	SLC12A2 (V673*)	Insertion (nonsense +1 more)	Profound global developmental delay	GLikely pathogenic
Select item 768030	NM_001046.3(SLC12A2):c.303G>A (p.Ala101=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 267304	NM_001046.3(SLC12A2):c.3076_3086del (p.Val1026fs)	SLC12A2 (V1010fs +1 more)	Deletion (frameshift variant +1 more)	Infant onset multiple organ failure	GLikely pathogenic
Select item 221447	GRCh37/hg19 5q23.3(chr5:127469912-127522256)x3	SLC12A2	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 77