ClinVar for Gene (Select 10723) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318841	NM_006598.3(SLC12A7):c.2860C>T (p.His954Tyr)	SLC12A7 (H954Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318840	NM_006598.3(SLC12A7):c.1324G>A (p.Gly442Arg)	SLC12A7 (G442R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318839	NM_006598.3(SLC12A7):c.568T>A (p.Ser190Thr)	SLC12A7 (S190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318838	NM_006598.3(SLC12A7):c.853G>A (p.Val285Met)	SLC12A7 (V285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318836	NM_006598.3(SLC12A7):c.659C>A (p.Thr220Asn)	SLC12A7 (T220N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318835	NM_006598.3(SLC12A7):c.1253C>A (p.Ala418Asp)	SLC12A7 (A418D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318834	NM_006598.3(SLC12A7):c.359C>T (p.Thr120Ile)	SLC12A7 (T120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318833	NM_006598.3(SLC12A7):c.332G>A (p.Arg111Gln)	SLC12A7 (R111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318832	NM_006598.3(SLC12A7):c.793G>T (p.Val265Leu)	SLC12A7 (V265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318831	NM_006598.3(SLC12A7):c.3191G>A (p.Gly1064Glu)	SLC12A7 (G1064E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318830	NM_006598.3(SLC12A7):c.721G>T (p.Gly241Cys)	SLC12A7 (G241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246402	NC_000005.9:g.(?_893114)_(1272415_?)dup	NKD2, SLC12A7 +4 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3162899	NM_006598.3(SLC12A7):c.980A>G (p.Tyr327Cys)	SLC12A7 (Y327C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162898	NM_006598.3(SLC12A7):c.976G>A (p.Ala326Thr)	SLC12A7 (A326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162896	NM_006598.3(SLC12A7):c.58G>A (p.Glu20Lys)	SLC12A7 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162895	NM_006598.3(SLC12A7):c.403G>A (p.Val135Ile)	SLC12A7 (V135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162894	NM_006598.3(SLC12A7):c.329G>A (p.Arg110Gln)	SLC12A7 (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162892	NM_006598.3(SLC12A7):c.2987C>T (p.Thr996Ile)	SLC12A7 (T996I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162891	NM_006598.3(SLC12A7):c.2786T>C (p.Met929Thr)	SLC12A7 (M929T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162890	NM_006598.3(SLC12A7):c.2703C>G (p.His901Gln)	SLC12A7 (H901Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162889	NM_006598.3(SLC12A7):c.2458G>A (p.Ala820Thr)	SLC12A7 (A820T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162888	NM_006598.3(SLC12A7):c.2404G>A (p.Glu802Lys)	SLC12A7 (E802K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162887	NM_006598.3(SLC12A7):c.2230C>T (p.Arg744Trp)	SLC12A7 (R744W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162886	NM_006598.3(SLC12A7):c.2179G>A (p.Val727Met)	SLC12A7 (V727M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162884	NM_006598.3(SLC12A7):c.2035C>T (p.Arg679Cys)	SLC12A7 (R679C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162883	NM_006598.3(SLC12A7):c.1654G>A (p.Gly552Arg)	SLC12A7 (G552R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162882	NM_006598.3(SLC12A7):c.1646A>G (p.Lys549Arg)	SLC12A7 (K549R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162881	NM_006598.3(SLC12A7):c.1615G>A (p.Val539Ile)	SLC12A7 (V539I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162880	NM_006598.3(SLC12A7):c.1580C>T (p.Pro527Leu)	SLC12A7 (P527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162879	NM_006598.3(SLC12A7):c.1285C>T (p.Pro429Ser)	SLC12A7 (P429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162878	NM_006598.3(SLC12A7):c.1205A>C (p.Glu402Ala)	SLC12A7 (E402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162877	NM_006598.3(SLC12A7):c.11A>G (p.Asn4Ser)	SLC12A7 (N4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655269	NM_006598.3(SLC12A7):c.730G>T (p.Ala244Ser)	SLC12A7 (A244S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655268	NM_006598.3(SLC12A7):c.762C>T (p.Tyr254=)	SLC12A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655267	NM_006598.3(SLC12A7):c.1359G>A (p.Thr453=)	SLC12A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655266	NM_006598.3(SLC12A7):c.1455-21CGCCTGCC[3]	SLC12A7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2619948	NM_006598.3(SLC12A7):c.3086A>G (p.Asn1029Ser)	SLC12A7 (N1029S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618122	NM_006598.3(SLC12A7):c.2669A>G (p.Gln890Arg)	SLC12A7 (Q890R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616200	NM_006598.3(SLC12A7):c.664G>A (p.Glu222Lys)	SLC12A7 (E222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600268	NM_006598.3(SLC12A7):c.2888C>T (p.Ala963Val)	SLC12A7 (A963V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2569904	NM_006598.3(SLC12A7):c.2524G>C (p.Gly842Arg)	SLC12A7 (G842R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569159	NM_006598.3(SLC12A7):c.628A>G (p.Thr210Ala)	SLC12A7 (T210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559842	NM_006598.3(SLC12A7):c.1180G>A (p.Gly394Ser)	SLC12A7 (G394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549903	NM_006598.3(SLC12A7):c.3039C>A (p.Asn1013Lys)	SLC12A7 (N1013K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545574	NM_006598.3(SLC12A7):c.1484T>C (p.Val495Ala)	SLC12A7 (V495A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538539	NM_006598.3(SLC12A7):c.380C>T (p.Pro127Leu)	SLC12A7 (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533411	NM_006598.3(SLC12A7):c.797T>C (p.Val266Ala)	SLC12A7 (V266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530592	NM_006598.3(SLC12A7):c.2737A>T (p.Met913Leu)	SLC12A7 (M913L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515820	NM_006598.3(SLC12A7):c.773C>T (p.Thr258Met)	SLC12A7 (T258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509055	NM_006598.3(SLC12A7):c.3040G>A (p.Val1014Ile)	SLC12A7 (V1014I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508942	NM_006598.3(SLC12A7):c.2498C>T (p.Ser833Leu)	SLC12A7 (S833L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489290	NM_006598.3(SLC12A7):c.1393A>G (p.Ile465Val)	SLC12A7 (I465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485600	NM_006598.3(SLC12A7):c.2843G>A (p.Arg948Gln)	SLC12A7 (R948Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481620	NM_006598.3(SLC12A7):c.261C>A (p.Asn87Lys)	SLC12A7 (N87K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476639	NM_006598.3(SLC12A7):c.1253C>T (p.Ala418Val)	SLC12A7 (A418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475602	NM_006598.3(SLC12A7):c.2420C>T (p.Ser807Phe)	SLC12A7 (S807F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473721	NM_006598.3(SLC12A7):c.1964G>A (p.Arg655His)	SLC12A7 (R655H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471983	NM_006598.3(SLC12A7):c.2233G>T (p.Ala745Ser)	SLC12A7 (A745S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471235	NM_006598.3(SLC12A7):c.2719G>A (p.Glu907Lys)	SLC12A7 (E907K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469107	NM_006598.3(SLC12A7):c.2147C>T (p.Ser716Leu)	SLC12A7 (S716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427644	NC_000005.9:g.(?_482643)_(1895829_?)del	BRD9, CEP72 +16 more	Deletion	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 2411763	NM_006598.3(SLC12A7):c.487T>C (p.Cys163Arg)	SLC12A7 (C163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410297	NM_006598.3(SLC12A7):c.3239C>T (p.Thr1080Ile)	SLC12A7 (T1080I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409089	NM_006598.3(SLC12A7):c.607C>T (p.Leu203Phe)	SLC12A7 (L203F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407399	NM_006598.3(SLC12A7):c.967T>G (p.Cys323Gly)	SLC12A7 (C323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398775	NM_006598.3(SLC12A7):c.1327G>A (p.Asp443Asn)	SLC12A7 (D443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396752	NM_006598.3(SLC12A7):c.1051G>A (p.Ala351Thr)	SLC12A7 (A351T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392729	NM_006598.3(SLC12A7):c.2597G>A (p.Arg866His)	SLC12A7 (R866H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388375	NM_006598.3(SLC12A7):c.1109C>T (p.Ala370Val)	SLC12A7 (A370V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386531	NM_006598.3(SLC12A7):c.2560G>A (p.Asp854Asn)	SLC12A7 (D854N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365171	NM_006598.3(SLC12A7):c.2656G>C (p.Asp886His)	SLC12A7 (D886H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365081	NM_006598.3(SLC12A7):c.2596C>T (p.Arg866Cys)	SLC12A7 (R866C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360235	NM_006598.3(SLC12A7):c.1213C>T (p.Arg405Cys)	SLC12A7 (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357704	NM_006598.3(SLC12A7):c.812A>G (p.Lys271Arg)	SLC12A7 (K271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347996	NM_006598.3(SLC12A7):c.2494G>A (p.Asp832Asn)	SLC12A7 (D832N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346339	NM_006598.3(SLC12A7):c.2128C>T (p.Arg710Cys)	SLC12A7 (R710C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345461	NM_006598.3(SLC12A7):c.7A>C (p.Thr3Pro)	SLC12A7 (T3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338712	NM_006598.3(SLC12A7):c.162C>G (p.Asn54Lys)	SLC12A7 (N54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326604	NM_006598.3(SLC12A7):c.1156G>A (p.Ala386Thr)	SLC12A7 (A386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314880	NM_006598.3(SLC12A7):c.2768A>G (p.Tyr923Cys)	SLC12A7 (Y923C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308772	NM_006598.3(SLC12A7):c.1033G>A (p.Gly345Ser)	SLC12A7 (G345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301470	NM_006598.3(SLC12A7):c.2231G>A (p.Arg744Gln)	SLC12A7 (R744Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297037	NM_006598.3(SLC12A7):c.2974A>G (p.Arg992Gly)	SLC12A7 (R992G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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