10911[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 1264952	NC_000005.10:g.128083709CGC[6]	SLC12A2, LOC129994526	Microsatellite	not provided	GBenign
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 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 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 3341716	NM_001046.3(SLC12A2):c.45G>C (p.Leu15=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2165244	NM_001046.3(SLC12A2):c.52G>T (p.Val18Phe)	SLC12A2, LOC129994526 (V18F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1809625	NM_001046.3(SLC12A2):c.80_103del (p.Leu27_Leu34del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +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 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 3250941	NM_001046.3(SLC12A2):c.113C>G (p.Ala38Gly)	LOC129994526, SLC12A2 (A38G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341336	NM_001046.3(SLC12A2):c.119C>T (p.Pro40Leu)	SLC12A2, LOC129994526 (P40L)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	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 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 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 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 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 1638143	NM_001046.3(SLC12A2):c.147G>T (p.Ala49=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3235029	NM_001046.3(SLC12A2):c.154G>A (p.Asp52Asn)	LOC129994526, SLC12A2 (D52N)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	GUncertain significance
Select item 1599916	NM_001046.3(SLC12A2):c.156C>G (p.Asp52Glu)	SLC12A2, LOC129994526 (D52E)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 1995084	NM_001046.3(SLC12A2):c.214T>A (p.Leu72Met)	LOC129994526, SLC12A2 (L72M)	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 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 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 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 2019184	NM_001046.3(SLC12A2):c.243C>T (p.Phe81=)	LOC129994526, SLC12A2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1532036	NM_001046.3(SLC12A2):c.261C>T (p.Ser87=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
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 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 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 1394883	NM_001046.3(SLC12A2):c.282TGC[3] (p.Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	SLC12A2-related disorder +1 more	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 2028447	NM_001046.3(SLC12A2):c.285_290del (p.Ala106_Ala107del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	not provided	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 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 2053048	NM_001046.3(SLC12A2):c.288GGC[9] (p.Ala107_Gly108insAlaAla)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +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 1551688	NM_001046.3(SLC12A2):c.288GGC[8] (p.Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GLikely benign
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 1385353	NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GUncertain significance
Select item 2727779	NM_001046.3(SLC12A2):c.288GGC[3] (p.Ala104_Ala107del)	LOC129994526, SLC12A2	Microsatellite (inframe_deletion +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 2043646	NM_001046.3(SLC12A2):c.288GGC[6] (p.Ala107del)	SLC12A2, LOC129994526 (A107del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
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 1393174	NM_001046.3(SLC12A2):c.297_320del (p.Ala100_Ala107del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3364658	NM_001046.3(SLC12A2):c.287C>T (p.Ala96Val)	LOC129994526, SLC12A2 (A96V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2655673	NM_001046.3(SLC12A2):c.300_320del (p.Ala101_Ala107del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
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 2977797	NM_001046.3(SLC12A2):c.302_303insAGCGGCAGCGGCGGCGGC (p.Ala107_Gly108insAlaAlaAlaAlaAlaAla)	LOC129994526, SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1592749	NM_001046.3(SLC12A2):c.303_320del (p.Ala102_Ala107del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 2719170	NM_001046.3(SLC12A2):c.306_320dup (p.Ala107_Gly108insAlaAlaAlaAlaAla)	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 1906771	NM_001046.3(SLC12A2):c.306_320del (p.Ala103_Ala107del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
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 1565987	NM_001046.3(SLC12A2):c.309_320del (p.Ala104_Ala107del)	LOC129994526, SLC12A2	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 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 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 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 2711650	NM_001046.3(SLC12A2):c.309_311dup (p.Ala107_Gly108insAla)	SLC12A2	Duplication (inframe_insertion +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 2980057	NM_001046.3(SLC12A2):c.312GGC[5] (p.Ala107_Gly108insAlaAla)	SLC12A2	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2143414	NM_001046.3(SLC12A2):c.309A>G (p.Ala103=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2259154	NM_001046.3(SLC12A2):c.317C>A (p.Ala106Glu)	SLC12A2 (A106E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2976232	NM_001046.3(SLC12A2):c.324T>G (p.Gly108=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3162827	NM_001046.3(SLC12A2):c.342G>C (p.Lys114Asn)	SLC12A2 (K114N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2111157	NM_001046.3(SLC12A2):c.347C>G (p.Thr116Ser)	SLC12A2 (T116S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937662	NM_001046.3(SLC12A2):c.356A>G (p.Asp119Gly)	SLC12A2 (D119G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2722572	NM_001046.3(SLC12A2):c.358G>A (p.Gly120Arg)	SLC12A2 (G120R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2150330	NM_001046.3(SLC12A2):c.358G>C (p.Gly120Arg)	SLC12A2 (G120R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066020	NM_001046.3(SLC12A2):c.362A>T (p.Glu121Val)	SLC12A2 (E121V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2156078	NM_001046.3(SLC12A2):c.376A>T (p.Ser126Cys)	SLC12A2 (S126C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3162829	NM_001046.3(SLC12A2):c.377G>A (p.Ser126Asn)	SLC12A2 (S126N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2077743	NM_001046.3(SLC12A2):c.382C>T (p.Pro128Ser)	SLC12A2 (P128S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026621	NM_001046.3(SLC12A2):c.385G>T (p.Ala129Ser)	SLC12A2 (A129S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257366	NM_001046.3(SLC12A2):c.386C>A (p.Ala129Asp)	SLC12A2 (A129D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083339	NM_001046.3(SLC12A2):c.391G>A (p.Gly131Ser)	SLC12A2 (G131S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655674	NM_001046.3(SLC12A2):c.395G>A (p.Ser132Asn)	SLC12A2 (S132N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 560291	NM_001046.3(SLC12A2):c.397G>C (p.Glu133Gln)	SLC12A2 (E133Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947836	NM_001046.3(SLC12A2):c.407A>G (p.Lys136Arg)	SLC12A2 (K136R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2726586	NM_001046.3(SLC12A2):c.420C>T (p.Arg140=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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