ClinVar for Gene (Select 3758) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378410	NM_153766.3(KCNJ1):c.770G>A (p.Ser257Asn)	KCNJ1 (S257N +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3374726	NM_153766.3(KCNJ1):c.401G>C (p.Cys134Ser)	KCNJ1 (C134S +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 3369914	NM_153766.3(KCNJ1):c.152C>T (p.Thr51Ile)	KCNJ1 (T51I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367112	NM_153766.3(KCNJ1):c.836A>T (p.Asp279Val)	KCNJ1 (D279V +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 3366371	NM_153766.3(KCNJ1):c.95T>C (p.Ile32Thr)	KCNJ1 (I32T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3359194	NM_153766.3(KCNJ1):c.388G>T (p.Val130Leu)	KCNJ1 (V130L +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3359193	NM_153766.3(KCNJ1):c.770G>T (p.Ser257Ile)	KCNJ1 (S257I +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3344448	NM_153766.3(KCNJ1):c.905G>A (p.Trp302Ter)	KCNJ1 (W302* +2 more)	Single nucleotide variant (nonsense)	KCNJ1-related disorder	GLikely pathogenic
Select item 3336410	NM_153766.3(KCNJ1):c.833T>C (p.Leu278Ser)	KCNJ1 (L278S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287638	NM_153766.3(KCNJ1):c.-21-2137G>A	KCNJ1 (R6Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3287637	NM_153766.3(KCNJ1):c.901C>A (p.Leu301Ile)	KCNJ1 (L301I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256663	NM_153766.3(KCNJ1):c.484A>G (p.Lys162Glu)	KCNJ1 (K162E +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 3251723	NM_153766.3(KCNJ1):c.881C>G (p.Ser294Cys)	KCNJ1 (S294C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3113311	NM_153766.3(KCNJ1):c.913C>T (p.Arg305Cys)	KCNJ1 (R305C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068341	NM_153766.3(KCNJ1):c.899_900del (p.Val300fs)	KCNJ1 (V300fs +2 more)	Deletion (frameshift variant)	Bartter disease type 2	GLikely pathogenic
Select item 3068007	NM_153766.3(KCNJ1):c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe)	KCNJ1	Indel (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3064889	NM_153766.3(KCNJ1):c.240G>A (p.Trp80Ter)	KCNJ1 (W80* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2	GLikely pathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3011084	NM_153766.3(KCNJ1):c.330C>T (p.Thr110=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010944	NM_153766.3(KCNJ1):c.702T>C (p.Val234=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008039	NM_153766.3(KCNJ1):c.405C>T (p.Ala135=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007256	NM_153766.3(KCNJ1):c.-21-2106C>T	KCNJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004651	NM_153766.3(KCNJ1):c.659del (p.Gly220fs)	KCNJ1 (G237fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3001065	NM_153766.3(KCNJ1):c.267C>T (p.Asp89=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997211	NM_153766.3(KCNJ1):c.996G>A (p.Glu332=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996445	NM_153766.3(KCNJ1):c.-21-2117G>A	KCNJ1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 2995267	NM_153766.3(KCNJ1):c.411C>T (p.Ala137=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990651	NM_153766.3(KCNJ1):c.882C>T (p.Ser294=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988245	NM_153766.3(KCNJ1):c.81T>C (p.Asp27=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983034	NM_153766.3(KCNJ1):c.876G>A (p.Arg292=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980911	NM_153766.3(KCNJ1):c.540G>A (p.Val180=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978609	NM_153766.3(KCNJ1):c.975T>C (p.Phe325=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976649	NM_153766.3(KCNJ1):c.321T>C (p.Asn107=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974205	NM_153766.3(KCNJ1):c.642C>T (p.Thr214=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973563	NM_153766.3(KCNJ1):c.819A>G (p.Glu273=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972326	NM_153766.3(KCNJ1):c.780C>T (p.Phe260=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970395	NM_153766.3(KCNJ1):c.363G>A (p.Val121=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970324	NM_153766.3(KCNJ1):c.-21-2148T>C	KCNJ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967984	NM_153766.3(KCNJ1):c.966C>T (p.Phe322=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967096	NM_153766.3(KCNJ1):c.522G>C (p.Thr174=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961957	NM_153766.3(KCNJ1):c.-21-2101G>A	KCNJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957505	NM_153766.3(KCNJ1):c.171G>A (p.Lys57=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957277	NM_153766.3(KCNJ1):c.-21-15T>C	KCNJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954822	NM_153766.3(KCNJ1):c.1074C>T (p.Asn358=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903274	NM_153766.3(KCNJ1):c.999C>A (p.Thr333=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902205	NM_153766.3(KCNJ1):c.235C>T (p.Leu79=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900940	NM_153766.3(KCNJ1):c.69A>G (p.Leu23=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898592	NM_153766.3(KCNJ1):c.485del (p.Lys162fs)	KCNJ1 (K179fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2894384	NM_153766.3(KCNJ1):c.273G>A (p.Pro91=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891442	NM_153766.3(KCNJ1):c.1101A>G (p.Thr367=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881958	NM_153766.3(KCNJ1):c.-21-2103G>A	KCNJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880922	NM_153766.3(KCNJ1):c.201A>G (p.Thr67=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876748	NM_153766.3(KCNJ1):c.-21-2101_-21-2100insGGT	KCNJ1	Insertion (intron variant)	not provided	GLikely benign
Select item 2876747	NM_153766.3(KCNJ1):c.-21-2099A>G	KCNJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876746	NM_153766.3(KCNJ1):c.-21-2098A>G	KCNJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876246	NM_153766.3(KCNJ1):c.315T>C (p.Asn105=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875630	NM_153766.3(KCNJ1):c.918del (p.Phe306fs)	KCNJ1 (F323fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2873261	NM_153766.3(KCNJ1):c.270C>T (p.Leu90=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864371	NM_153766.3(KCNJ1):c.225C>T (p.Phe75=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863389	NM_153766.3(KCNJ1):c.18G>C (p.Arg6=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862511	NM_153766.3(KCNJ1):c.885T>C (p.Tyr295=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860921	NM_153766.3(KCNJ1):c.-13G>A	KCNJ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852764	NM_153766.3(KCNJ1):c.416_417del (p.Phe139fs)	KCNJ1 (F158fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2847651	NM_153766.3(KCNJ1):c.798C>G (p.Thr266=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847368	NM_153766.3(KCNJ1):c.105C>T (p.Gly35=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845637	NM_153766.3(KCNJ1):c.561G>A (p.Lys187=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841982	NM_153766.3(KCNJ1):c.148T>A (p.Trp50Arg)	KCNJ1 (W50R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840459	NM_153766.3(KCNJ1):c.135del (p.Phe46fs)	KCNJ1 (F65fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2838243	NM_153766.3(KCNJ1):c.828G>A (p.Val276=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836319	NM_153766.3(KCNJ1):c.-7A>T	KCNJ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834982	NM_153766.3(KCNJ1):c.499A>T (p.Lys167Ter)	KCNJ1 (K184* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2834770	NM_153766.3(KCNJ1):c.903T>G (p.Leu301=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832731	NM_153766.3(KCNJ1):c.846G>A (p.Val282=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832651	NM_153766.3(KCNJ1):c.-21-2136G>A	KCNJ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2828674	NM_153766.3(KCNJ1):c.349C>T (p.Leu117=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827700	NM_153766.3(KCNJ1):c.978C>T (p.Ser326=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825619	NM_153766.3(KCNJ1):c.504dup (p.Arg169fs)	KCNJ1 (R188fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2823855	NM_153766.3(KCNJ1):c.159A>G (p.Val53=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823151	NM_153766.3(KCNJ1):c.738A>G (p.Pro246=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821945	NM_153766.3(KCNJ1):c.498C>G (p.Pro166=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821892	NM_153766.3(KCNJ1):c.-6G>T	KCNJ1 (E18* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2811445	NM_153766.3(KCNJ1):c.807G>A (p.Gln269=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805272	NM_153766.3(KCNJ1):c.30C>T (p.Val10=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801479	NM_153766.3(KCNJ1):c.194del (p.Phe65fs)	KCNJ1 (F82fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2797668	NM_153766.3(KCNJ1):c.750C>T (p.Tyr250=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794645	NM_153766.3(KCNJ1):c.1010C>A (p.Ala337Asp)	KCNJ1 (A337D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794031	NM_153766.3(KCNJ1):c.972C>T (p.Asn324=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793021	NM_153766.3(KCNJ1):c.606T>C (p.Leu202=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787050	NM_153766.3(KCNJ1):c.303C>T (p.Pro101=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781121	NM_153766.3(KCNJ1):c.-21-2121G>T	KCNJ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2760545	NM_153766.3(KCNJ1):c.210G>A (p.Leu70=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739032	NM_153766.3(KCNJ1):c.825G>A (p.Val275=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735790	NM_153766.3(KCNJ1):c.163G>T (p.Asp55Tyr)	KCNJ1 (D55Y +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2735789	NM_153766.3(KCNJ1):c.174G>A (p.Trp58Ter)	KCNJ1 (W77* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2735788	NM_153766.3(KCNJ1):c.220T>G (p.Phe74Val)	KCNJ1 (F74V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735787	NM_153766.3(KCNJ1):c.240G>T (p.Trp80Cys)	KCNJ1 (W99C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2735786	NM_153766.3(KCNJ1):c.751C>T (p.His251Tyr)	KCNJ1 (H251Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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