ClinVar for Gene (Select 57468) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336558	NM_020708.5(SLC12A5):c.187A>G (p.Ser63Gly)	SLC12A5 (S63G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318824	NM_020708.5(SLC12A5):c.1472C>A (p.Ser491Tyr)	SLC12A5 (S514Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318823	NM_020708.5(SLC12A5):c.2065C>T (p.Pro689Ser)	SLC12A5 (P689S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257299	NM_020708.5(SLC12A5):c.1837T>G (p.Cys613Gly)	SLC12A5 (C613G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256545	NM_020708.5(SLC12A5):c.2609A>C (p.Gln870Pro)	SLC12A5 (Q870P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 3256539	NM_020708.5(SLC12A5):c.1030C>T (p.Gln344Ter)	SLC12A5 (Q344* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 3255310	NM_020708.5(SLC12A5):c.481+93A>G	SLC12A5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255309	NM_001134771.2(SLC12A5):c.121+1262C>T	SLC12A5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255294	NM_020708.5(SLC12A5):c.*2058G>A	SLC12A5	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 3255280	NM_020708.5(SLC12A5):c.1395-59C>G	SLC12A5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255279	NM_020708.5(SLC12A5):c.2911-26C>T	SLC12A5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248233	NC_000020.10:g.(?_44519965)_(44751017_?)del	CD40, CTSA +6 more	Deletion	Combined deficiency of sialidase AND beta galactosidase	GPathogenic
Select item 3239235	NM_001134771.2(SLC12A5):c.75G>A (p.Arg25=)	LOC130065980, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3238753	NM_020708.5(SLC12A5):c.2689G>A (p.Asp897Asn)	SLC12A5 (D897N +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 14	GUncertain significance
Select item 3234472	NM_020708.5(SLC12A5):c.356G>A (p.Arg119Gln)	SLC12A5 (R119Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233322	NM_020708.5(SLC12A5):c.2570G>A (p.Arg857His)	SLC12A5 (R857H +1 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 14	GUncertain significance
Select item 3162867	NM_020708.5(SLC12A5):c.1378G>A (p.Val460Ile)	SLC12A5 (V460I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052720	NM_020708.5(SLC12A5):c.267G>C (p.Lys89Asn)	SLC12A5 (K112N +1 more)	Single nucleotide variant (missense variant)	SLC12A5-related disorder	GUncertain significance
Select item 3039637	NM_020708.5(SLC12A5):c.*2A>T	LOC113960611, SLC12A5	Single nucleotide variant (3 prime UTR variant)	SLC12A5-related disorder	GLikely benign
Select item 3017932	NM_020708.5(SLC12A5):c.2313G>A (p.Val771=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 3014243	NM_020708.5(SLC12A5):c.426+13C>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 3012173	NM_020708.5(SLC12A5):c.2672T>C (p.Val891Ala)	SLC12A5 (V891A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 3005758	NM_020708.5(SLC12A5):c.426+16C>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 3002174	NM_020708.5(SLC12A5):c.48C>T (p.Asn16=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2998667	NM_020708.5(SLC12A5):c.482-8C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2998541	NM_020708.5(SLC12A5):c.3125+7G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2997377	NM_020708.5(SLC12A5):c.2802A>C (p.Thr934=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2990898	NM_020708.5(SLC12A5):c.3243C>T (p.Arg1081=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2990846	NM_020708.5(SLC12A5):c.147+17G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2986082	NM_020708.5(SLC12A5):c.1570-12C>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2980547	NM_020708.5(SLC12A5):c.3009G>A (p.Lys1003=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2974498	NM_020708.5(SLC12A5):c.3180C>T (p.Ile1060=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2970563	NM_020708.5(SLC12A5):c.225T>C (p.Ser75=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2957759	NM_020708.5(SLC12A5):c.219G>A (p.Gln73=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2915471	NM_020708.5(SLC12A5):c.951A>G (p.Leu317=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2913477	NM_020708.5(SLC12A5):c.1067-12G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2912001	NM_020708.5(SLC12A5):c.854+13G>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2911681	NM_020708.5(SLC12A5):c.2012+18G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2904140	NM_020708.5(SLC12A5):c.1500G>T (p.Leu500=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2902726	NM_020708.5(SLC12A5):c.1569+18A>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2899945	NM_020708.5(SLC12A5):c.148-13C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2898377	NM_020708.5(SLC12A5):c.52+9T>C	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2893892	NM_020708.5(SLC12A5):c.1394+12G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2887000	NM_020708.5(SLC12A5):c.675C>T (p.Ala225=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2886310	NM_020708.5(SLC12A5):c.613-14C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2885030	NM_020708.5(SLC12A5):c.1593T>C (p.Asn531=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2880738	NM_020708.5(SLC12A5):c.2958C>T (p.Ser986=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2877776	NM_020708.5(SLC12A5):c.2378-13T>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2877484	NM_020708.5(SLC12A5):c.2013-15_2013-14del	SLC12A5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2871905	NM_020708.5(SLC12A5):c.147+14G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2866742	NM_020708.5(SLC12A5):c.2680-12G>C	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2863047	NM_020708.5(SLC12A5):c.636C>T (p.Ala212=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2857464	NM_020708.5(SLC12A5):c.447C>T (p.Ser149=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2853481	NM_020708.5(SLC12A5):c.1395-6T>C	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2850797	NM_020708.5(SLC12A5):c.427-6T>C	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2849784	NM_020708.5(SLC12A5):c.909C>G (p.Ala303=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2846696	NM_020708.5(SLC12A5):c.52+15G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2839207	NM_020708.5(SLC12A5):c.1238-9G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2839186	NM_020708.5(SLC12A5):c.45C>T (p.Ala15=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2836449	NM_020708.5(SLC12A5):c.3294G>A (p.Leu1098=)	LOC113960611, SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2834578	NM_020708.5(SLC12A5):c.1237+13_1237+20dup	SLC12A5	Duplication (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2832172	NM_020708.5(SLC12A5):c.2911-10C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2830604	NM_020708.5(SLC12A5):c.1998C>T (p.His666=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2825133	NM_020708.5(SLC12A5):c.2297del (p.Leu766fs)	SLC12A5 (L766fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 34	GPathogenic
Select item 2825122	NM_020708.5(SLC12A5):c.2022G>T (p.Leu674=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2824320	NM_020708.5(SLC12A5):c.147+8G>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2823878	NM_020708.5(SLC12A5):c.2377+23_2377+45del	SLC12A5	Deletion (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2814260	NM_020708.5(SLC12A5):c.2548-8G>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2811512	NM_020708.5(SLC12A5):c.3300G>C (p.Arg1100=)	LOC113960611, SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2811331	NM_020708.5(SLC12A5):c.280-8C>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2809145	NM_020708.5(SLC12A5):c.2680-20C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2809008	NM_020708.5(SLC12A5):c.2377+15G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2805800	NM_020708.5(SLC12A5):c.213G>T (p.Leu71=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2801383	NM_020708.5(SLC12A5):c.231G>A (p.Glu77=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2798895	NM_020708.5(SLC12A5):c.2628C>T (p.Thr876=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2795696	NM_020708.5(SLC12A5):c.2182-10C>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2793667	NM_020708.5(SLC12A5):c.1238-4G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2792283	NM_020708.5(SLC12A5):c.2377+13G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2788225	NM_020708.5(SLC12A5):c.975C>T (p.Arg325=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2788204	NM_020708.5(SLC12A5):c.1164C>T (p.Asp388=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2778449	NM_020708.5(SLC12A5):c.148-4A>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2767441	NM_020708.5(SLC12A5):c.1337-2A>G	SLC12A5	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 2766608	NM_020708.5(SLC12A5):c.2787+10C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2762789	NM_020708.5(SLC12A5):c.855-18C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2759751	NM_020708.5(SLC12A5):c.2679+13G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2759492	NM_020708.5(SLC12A5):c.53G>A (p.Gly18Asp)	SLC12A5 (G18D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2753440	NM_020708.5(SLC12A5):c.9C>T (p.Asn3=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2752213	NM_020708.5(SLC12A5):c.1688+14T>C	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2746599	NM_020708.5(SLC12A5):c.1787G>A (p.Trp596Ter)	SLC12A5 (W596* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 34	GPathogenic
Select item 2744896	NM_020708.5(SLC12A5):c.2911-7C>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2731441	NM_020708.5(SLC12A5):c.52+13C>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2729562	NM_020708.5(SLC12A5):c.1237+11G>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2728519	NM_020708.5(SLC12A5):c.1787+16C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2723873	NM_020708.5(SLC12A5):c.1383C>A (p.Val461=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2721793	NM_020708.5(SLC12A5):c.1854A>G (p.Ala618=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2716130	NM_020708.5(SLC12A5):c.2331C>T (p.Arg777=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2703336	NM_020708.5(SLC12A5):c.280-16C>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2701845	NM_020708.5(SLC12A5):c.318G>T (p.Pro106=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign

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