ClinVar for Gene (Select 6558) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356933	NM_001046.3(SLC12A2):c.530C>T (p.Thr177Met)	SLC12A2 (T177M)	Single nucleotide variant (missense variant +1 more)	SLC12A2-related disorder	GUncertain significance
Select item 3354568	NM_001046.3(SLC12A2):c.2833C>G (p.Pro945Ala)	SLC12A2 (P945A)	Single nucleotide variant (missense variant +1 more)	SLC12A2-related disorder	GUncertain significance
Select item 3342183	NM_001046.3(SLC12A2):c.2742A>G (p.Gln914=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 3337587	NM_001046.3(SLC12A2):c.3212+1G>T	SLC12A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3318807	NM_001046.3(SLC12A2):c.3182A>C (p.Lys1061Thr)	SLC12A2 (K1045T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257551	NM_001046.3(SLC12A2):c.3520C>T (p.Arg1174Ter)	SLC12A2 (R1158* +1 more)	Single nucleotide variant (nonsense +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 3253024	NM_001046.3(SLC12A2):c.3550A>G (p.Met1184Val)	SLC12A2 (M1168V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251202	NM_001046.3(SLC12A2):c.1014T>C (p.Thr338=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3251002	NM_001046.3(SLC12A2):c.815T>C (p.Val272Ala)	SLC12A2 (V272A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3238654	NM_001046.3(SLC12A2):c.1237G>A (p.Gly413Arg)	SLC12A2 (G413R)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	GUncertain significance
Select item 3236404	NM_001046.3(SLC12A2):c.877G>A (p.Val293Ile)	SLC12A2 (V293I)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	GUncertain significance
Select item 3236052	NM_001046.3(SLC12A2):c.3419A>G (p.Glu1140Gly)	SLC12A2 (E1124G +1 more)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	GUncertain significance
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 3234069	NM_001046.3(SLC12A2):c.2069A>G (p.Asn690Ser)	SLC12A2 (N690S)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	GUncertain significance
Select item 3162833	NM_001046.3(SLC12A2):c.814G>A (p.Val272Met)	SLC12A2 (V272M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162832	NM_001046.3(SLC12A2):c.799C>A (p.Pro267Thr)	SLC12A2 (P267T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 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 3162825	NM_001046.3(SLC12A2):c.2870G>A (p.Ser957Asn)	SLC12A2 (S957N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162823	NM_001046.3(SLC12A2):c.2404C>T (p.Pro802Ser)	SLC12A2 (P802S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162822	NM_001046.3(SLC12A2):c.2264A>G (p.Asp755Gly)	SLC12A2 (D755G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162821	NM_001046.3(SLC12A2):c.1389A>C (p.Lys463Asn)	SLC12A2 (K463N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162820	NM_001046.3(SLC12A2):c.1012A>T (p.Thr338Ser)	SLC12A2 (T338S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3066125	NM_001046.3(SLC12A2):c.3533T>A (p.Val1178Glu)	SLC12A2 (V1162E +1 more)	Single nucleotide variant (missense variant +1 more)	Delpire-McNeill syndrome	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 3064020	NM_001046.3(SLC12A2):c.2930-5T>A	SLC12A2	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 78	GUncertain significance
Select item 3062826	GRCh37/hg19 5q23.2-23.3(chr5:125506060-128162785)x3	ALDH7A1, C5orf63 +10 more	Copy number gain	not specified	GPathogenic
Select item 3051660	NM_001046.3(SLC12A2):c.685C>T (p.His229Tyr)	SLC12A2 (H229Y)	Single nucleotide variant (missense variant +1 more)	SLC12A2-related disorder	GUncertain significance
Select item 3033879	NM_001046.3(SLC12A2):c.1228C>T (p.Arg410Ter)	SLC12A2 (R410*)	Single nucleotide variant (nonsense +1 more)	SLC12A2-related disorder	GPathogenic
Select item 3026634	NM_001046.3(SLC12A2):c.1183C>A (p.Leu395Ile)	SLC12A2 (L395I)	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 3026585	NM_001046.3(SLC12A2):c.2523A>G (p.Lys841=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022171	NM_001046.3(SLC12A2):c.745G>A (p.Glu249Lys)	SLC12A2 (E249K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016695	NM_001046.3(SLC12A2):c.1725A>G (p.Ser575=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3005377	NM_001046.3(SLC12A2):c.2343A>G (p.Glu781=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999382	NM_001046.3(SLC12A2):c.877-13T>C	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998675	NM_001046.3(SLC12A2):c.571G>A (p.Gly191Ser)	SLC12A2 (G191S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996928	NM_001046.3(SLC12A2):c.2710A>G (p.Ile904Val)	SLC12A2 (I904V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994362	NM_001046.3(SLC12A2):c.1751A>G (p.Tyr584Cys)	SLC12A2 (Y584C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993654	NM_001046.3(SLC12A2):c.2967G>A (p.Leu989=)	SLC12A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2990570	NM_001046.3(SLC12A2):c.757-2A>G	SLC12A2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2988480	NM_001046.3(SLC12A2):c.592C>T (p.His198Tyr)	SLC12A2 (H198Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985471	NM_001046.3(SLC12A2):c.2719T>C (p.Phe907Leu)	SLC12A2 (F907L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2982484	NM_001046.3(SLC12A2):c.464G>C (p.Ser155Thr)	SLC12A2 (S155T)	Single nucleotide variant (missense variant +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 2977897	NM_001046.3(SLC12A2):c.2264-16C>T	SLC12A2	Single nucleotide variant (intron variant)	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 2977414	NM_001046.3(SLC12A2):c.951A>G (p.Ile317Met)	SLC12A2 (I317M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977257	NM_001046.3(SLC12A2):c.1536+14A>C	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976878	NM_001046.3(SLC12A2):c.2617-12C>T	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976849	NM_001046.3(SLC12A2):c.3555A>G (p.Ala1185=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2975655	NM_001046.3(SLC12A2):c.3299+15A>G	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974528	NM_001046.3(SLC12A2):c.2006-15G>A	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972572	NM_001046.3(SLC12A2):c.1600G>A (p.Val534Ile)	SLC12A2 (V534I)	Single nucleotide variant (missense variant +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 2972260	NM_001046.3(SLC12A2):c.1408+19A>G	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971038	NM_001046.3(SLC12A2):c.808G>A (p.Asp270Asn)	SLC12A2 (D270N)	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 2970650	NM_001046.3(SLC12A2):c.2804-14T>C	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2969831	NM_001046.3(SLC12A2):c.1536+20A>G	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2964986	NM_001046.3(SLC12A2):c.1220A>G (p.Asn407Ser)	SLC12A2 (N407S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960249	NM_001046.3(SLC12A2):c.1408+7A>T	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959684	NM_001046.3(SLC12A2):c.1049-20G>T	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956824	NM_001046.3(SLC12A2):c.1049-23TTTG[3]	SLC12A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2956689	NM_001046.3(SLC12A2):c.1887A>T (p.Leu629=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2914817	NM_001046.3(SLC12A2):c.1322T>C (p.Ile441Thr)	SLC12A2 (I441T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2910640	NM_001046.3(SLC12A2):c.652A>G (p.Met218Val)	SLC12A2 (M218V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2903050	NM_001046.3(SLC12A2):c.516G>A (p.Gln172=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895596	NM_001046.3(SLC12A2):c.1760T>C (p.Met587Thr)	SLC12A2 (M587T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888995	NM_001046.3(SLC12A2):c.2996T>C (p.Val999Ala)	SLC12A2 (V999A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2882918	NM_001046.3(SLC12A2):c.696G>T (p.Ala232=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882697	NM_001046.3(SLC12A2):c.2327G>A (p.Arg776His)	SLC12A2 (R776H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878071	NM_001046.3(SLC12A2):c.3333C>T (p.Tyr1111=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872471	NM_001046.3(SLC12A2):c.3299+13A>G	SLC12A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867373	NM_001046.3(SLC12A2):c.2447G>C (p.Gly816Ala)	SLC12A2 (G816A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2864805	NM_001046.3(SLC12A2):c.466C>T (p.Leu156=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2859777	NM_001046.3(SLC12A2):c.2935G>T (p.Glu979Ter)	SLC12A2 (E979*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2854922	NM_001046.3(SLC12A2):c.1963T>C (p.Tyr655His)	SLC12A2 (Y655H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2847915	NM_001046.3(SLC12A2):c.1865C>T (p.Ala622Val)	SLC12A2 (A622V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2837963	NM_001046.3(SLC12A2):c.505G>T (p.Val169Leu)	SLC12A2 (V169L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836111	NM_001046.3(SLC12A2):c.1470A>G (p.Val490=)	SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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