ClinVar for Gene (Select 3767) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369832	NM_000525.4(KCNJ11):c.17G>A (p.Gly6Asp)	KCNJ11 (G6D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363991	NM_000525.4(KCNJ11):c.974G>T (p.Arg325Leu)	KCNJ11 (R238L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362515	NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)	KCNJ11 (T71I)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 2	GUncertain significance
Select item 3361909	NM_000525.4(KCNJ11):c.147C>G (p.Ile49Met)	KCNJ11 (I49M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346100	NM_000525.4(KCNJ11):c.133G>A (p.Ala45Thr)	KCNJ11 (A45T)	Single nucleotide variant (missense variant +1 more)	KCNJ11-related disorder	GUncertain significance
Select item 3342279	NM_000525.4(KCNJ11):c.985G>A (p.Asp329Asn)	KCNJ11 (D242N +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13	GUncertain significance
Select item 3339659	NM_000525.4(KCNJ11):c.*14G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3339612	NM_000525.4(KCNJ11):c.1093C>A (p.Arg365Ser)	KCNJ11 (R278S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339537	NM_000525.4(KCNJ11):c.491T>A (p.Leu164His)	KCNJ11 (L164H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339027	NM_000525.4(KCNJ11):c.1159G>A (p.Asp387Asn)	KCNJ11 (D300N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252681	NM_000525.4(KCNJ11):c.291C>A (p.His97Gln)	KCNJ11 (H10Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251987	NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser)	KCNJ11 (R282S +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 3244735	NC_000011.9:g.(?_17408466)_(17434313_?)del	ABCC8, KCNJ11	Deletion	not provided	GPathogenic
Select item 3244729	NC_000011.9:g.(?_17355305)_(17434268_?)del	ABCC8, KCNJ11 +1 more	Deletion	not provided	GPathogenic
Select item 3241788	NM_000525.4(KCNJ11):c.368del (p.Phe123fs)	KCNJ11 (F123fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241787	NM_000525.4(KCNJ11):c.808del (p.Leu270fs)	KCNJ11 (L183fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241786	NM_000525.4(KCNJ11):c.703C>T (p.Gln235Ter)	KCNJ11 (Q148* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239673	NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)	KCNJ11 (A277fs +1 more)	Deletion (frameshift variant)	Hyperinsulinemic hypoglycemia, familial, 2	GLikely pathogenic
Select item 3233467	NM_000525.4(KCNJ11):c.966G>T (p.Glu322Asp)	KCNJ11 (E235D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3231945	NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)	KCNJ11 (A145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066229	NM_000525.4(KCNJ11):c.782T>C (p.Ile261Thr)	KCNJ11 (I174T +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13	GUncertain significance
Select item 3063197	GRCh37/hg19 11p15.1(chr11:17126882-17579212)x3	ABCC8, KCNJ11 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3059441	NM_000525.4(KCNJ11):c.-508T>G	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	KCNJ11-related disorder	GLikely benign
Select item 3055416	NM_000525.4(KCNJ11):c.1091C>T (p.Ala364Val)	KCNJ11 (A277V +1 more)	Single nucleotide variant (missense variant)	KCNJ11-related disorder	GUncertain significance
Select item 3034151	NM_000525.4(KCNJ11):c.66C>T (p.Ala22=)	KCNJ11	Single nucleotide variant (synonymous variant +2 more)	KCNJ11-related disorder	GLikely benign
Select item 3013783	NM_000525.4(KCNJ11):c.556C>T (p.His186Tyr)	KCNJ11 (H99Y +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3012407	NM_000525.4(KCNJ11):c.897G>A (p.Gln299=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008107	NM_000525.4(KCNJ11):c.552C>T (p.Ser184=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003943	NM_000525.4(KCNJ11):c.213A>G (p.Thr71=)	KCNJ11	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3003942	NM_000525.4(KCNJ11):c.214T>C (p.Leu72=)	KCNJ11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969579	NM_000525.4(KCNJ11):c.828C>A (p.His276Gln)	KCNJ11 (H189Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916729	NM_000525.4(KCNJ11):c.952A>G (p.Ile318Val)	KCNJ11 (I231V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915459	NM_000525.4(KCNJ11):c.148C>T (p.Arg50Trp)	KCNJ11 (R50W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897495	NM_000525.4(KCNJ11):c.33A>G (p.Glu11=)	KCNJ11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2897494	NM_000525.4(KCNJ11):c.693G>A (p.Val231=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876978	NM_000525.4(KCNJ11):c.1024C>T (p.Pro342Ser)	KCNJ11 (P255S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846265	NM_000525.4(KCNJ11):c.393del (p.Ile131fs)	KCNJ11 (I131fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2841775	NM_000525.4(KCNJ11):c.62del (p.Pro21fs)	KCNJ11 (P21fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2835057	NM_000525.4(KCNJ11):c.662G>C (p.Arg221Pro)	KCNJ11 (R134P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834748	NM_000525.4(KCNJ11):c.317del (p.Thr106fs)	KCNJ11 (T106fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2803616	NM_000525.4(KCNJ11):c.226A>G (p.Thr76Ala)	KCNJ11 (T76A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2798311	NM_000525.4(KCNJ11):c.1094G>T (p.Arg365Leu)	KCNJ11 (R365L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768880	NM_000525.4(KCNJ11):c.279dup (p.Ala94fs)	KCNJ11 (A7fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2767975	NM_000525.4(KCNJ11):c.131T>C (p.Val44Ala)	KCNJ11 (V44A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2735543	NM_000525.4(KCNJ11):c.151G>T (p.Glu51Ter)	KCNJ11 (E51*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2735541	NM_000525.4(KCNJ11):c.491T>C (p.Leu164Pro)	KCNJ11 (L164P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2735540	NM_000525.4(KCNJ11):c.612C>A (p.Asp204Glu)	KCNJ11 (D117E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2725519	NM_000525.4(KCNJ11):c.844G>C (p.Glu282Gln)	KCNJ11 (E282Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2704823	NM_000525.4(KCNJ11):c.31G>T (p.Glu11Ter)	KCNJ11 (E11*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2689289	NM_000525.4(KCNJ11):c.259G>A (p.Ala87Thr)	KCNJ11 (A87T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2676211	NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)	KCNJ11 (C166fs +1 more)	Duplication (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676210	NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)	KCNJ11 (E195* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676209	NM_000525.4(KCNJ11):c.991_992del (p.Ser331fs)	KCNJ11 (S244fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676208	NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)	KCNJ11 (W3* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676207	NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)	KCNJ11 (S186fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676206	NM_000525.4(KCNJ11):c.399del (p.Phe133fs)	KCNJ11 (F133fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676205	NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)	KCNJ11 (A96T +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676204	NM_000525.4(KCNJ11):c.639del (p.Thr214fs)	KCNJ11 (T127fs +1 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2676203	NM_000525.4(KCNJ11):c.993dup (p.Lys332fs)	KCNJ11 (K245fs +1 more)	Duplication (frameshift variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 2664738	NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)	KCNJ11 (H266R +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2	GUncertain significance
Select item 2663586	NM_000525.4(KCNJ11):c.344A>T (p.His115Leu)	KCNJ11 (H115L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641643	NM_000525.4(KCNJ11):c.310G>A (p.Glu104Lys)	KCNJ11 (E104K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641642	NM_000525.4(KCNJ11):c.825_842del (p.His276_Leu281del)	KCNJ11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2630821	NM_000525.4(KCNJ11):c.329G>T (p.Cys110Phe)	KCNJ11 (C110F +1 more)	Single nucleotide variant (missense variant)	KCNJ11-related disorder	GUncertain significance
Select item 2630405	NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)	KCNJ11 (A126T +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 2626936	NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)	KCNJ11 (R54fs)	Duplication (frameshift variant +1 more)	Diabetes mellitus, permanent neonatal 2	GLikely pathogenic
Select item 2613822	NM_000525.4(KCNJ11):c.324G>C (p.Glu108Asp)	KCNJ11 (E21D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584620	NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)	KCNJ11 (P21T)	Single nucleotide variant (missense variant +2 more)	Type 1 diabetes mellitus 20 +3 more	GUncertain significance
Select item 2574445	NM_000525.4(KCNJ11):c.949C>T (p.Pro317Ser)	KCNJ11 (P230S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571843	NM_000525.4(KCNJ11):c.526C>G (p.Arg176Gly)	KCNJ11 (R176G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506217	NM_000525.4(KCNJ11):c.11G>A (p.Arg4His)	KCNJ11 (R4H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504984	NM_000525.4(KCNJ11):c.1019C>A (p.Pro340His)	KCNJ11 (P253H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503226	NM_000525.4(KCNJ11):c.1056C>A (p.Asp352Glu)	KCNJ11 (D265E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501800	NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)	KCNJ11 (L262P +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +1 more	GUncertain significance
Select item 2501786	NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)	KCNJ11 (K38E)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 2	GLikely pathogenic
Select item 2446087	NM_000525.4(KCNJ11):c.848T>A (p.Ile283Asn)	KCNJ11 (I196N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433001	NM_000525.4(KCNJ11):c.229A>G (p.Met77Val)	KCNJ11 (M77V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433000	NM_000525.4(KCNJ11):c.650T>C (p.Met217Thr)	KCNJ11 (M130T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2390252	NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys)	KCNJ11 (R238C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305396	NM_000525.4(KCNJ11):c.784G>A (p.Asp262Asn)	KCNJ11 (D175N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296426	NM_000525.4(KCNJ11):c.720G>C (p.Met240Ile)	KCNJ11 (M153I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276257	NM_000525.4(KCNJ11):c.304C>T (p.Pro102Ser)	KCNJ11 (P15S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267396	NM_000525.4(KCNJ11):c.26C>T (p.Pro9Leu)	KCNJ11 (P9L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2192005	NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)	KCNJ11 (L144V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189196	NM_000525.4(KCNJ11):c.529A>C (p.Arg177=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188224	NM_000525.4(KCNJ11):c.954T>C (p.Ile318=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179514	NM_000525.4(KCNJ11):c.1149C>T (p.Ser383=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179313	NM_000525.4(KCNJ11):c.811G>A (p.Ala271Thr)	KCNJ11 (A184T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169487	NM_000525.4(KCNJ11):c.655G>T (p.Val219Leu)	KCNJ11 (V132L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156201	NM_000525.4(KCNJ11):c.1039C>T (p.Arg347Cys)	KCNJ11 (R347C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146733	NM_000525.4(KCNJ11):c.664A>C (p.Lys222Gln)	KCNJ11 (K135Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137003	NM_000525.4(KCNJ11):c.148C>G (p.Arg50Gly)	KCNJ11 (R50G)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2137002	NM_000525.4(KCNJ11):c.165C>A (p.Phe55Leu)	KCNJ11 (F55L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2137001	NM_000525.4(KCNJ11):c.271T>C (p.Trp91Arg)	KCNJ11 (W4R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137000	NM_000525.4(KCNJ11):c.847ATC[1] (p.Ile284del)	KCNJ11 (I284del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2100490	NM_000525.4(KCNJ11):c.262A>G (p.Met88Val)	KCNJ11 (M88V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2098808	NM_000525.4(KCNJ11):c.24C>T (p.Ile8=)	KCNJ11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2079244	NM_000525.4(KCNJ11):c.-134G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2059676	NM_000525.4(KCNJ11):c.1155T>A (p.Ser385=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051036	NM_000525.4(KCNJ11):c.778G>A (p.Val260Ile)	KCNJ11 (V173I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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