ClinVar for PubMed (Select 22701567) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679522	NM_000525.4(KCNJ11):c.490C>A (p.Leu164Ile)	KCNJ11 (L164I +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1679520	NM_000525.4(KCNJ11):c.525C>T (p.His175=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1679518	NM_000525.4(KCNJ11):c.-154G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1679515	NM_000525.4(KCNJ11):c.697C>A (p.Leu233Ile)	KCNJ11 (L146I +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1679514	NM_000525.4(KCNJ11):c.*1415G>C	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1607360	NM_000525.4(KCNJ11):c.1017G>A (p.Val339=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1144521	NM_000525.4(KCNJ11):c.174C>T (p.Asp58=)	KCNJ11	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 994911	NM_000525.4(KCNJ11):c.346T>C (p.Ser116Pro)	KCNJ11 (S116P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 992029	NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)	KCNJ11 (A103T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 992028	NM_000525.4(KCNJ11):c.636C>T (p.Ser212=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 992027	NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 992023	NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)	KCNJ11 (V286M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989948	NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)	KCNJ11 (R4C)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GUncertain significance
Select item 989946	NM_000525.4(KCNJ11):c.186G>A (p.Thr62=)	KCNJ11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989945	NM_000525.4(KCNJ11):c.285C>T (p.Phe95=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 947372	NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)	KCNJ11 (E51fs)	Deletion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 915359	NM_000525.4(KCNJ11):c.238del (p.Leu80fs)	KCNJ11 (L80fs)	Deletion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 880301	NM_000525.4(KCNJ11):c.*849C>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 879326	NM_000525.4(KCNJ11):c.-37C>T	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 879076	NM_000525.4(KCNJ11):c.*1037G>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 878730	NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp)	KCNJ11 (R31W)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 877742	NM_000525.4(KCNJ11):c.-424C>T	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 877703	NM_000525.4(KCNJ11):c.156G>A (p.Gln52=)	KCNJ11	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 877617	NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 877520	NM_000525.4(KCNJ11):c.*766G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 877519	NM_000525.4(KCNJ11):c.*842C>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 877518	NM_000525.4(KCNJ11):c.*848A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 877474	NM_000525.4(KCNJ11):c.*1220G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GUncertain significance
Select item 804977	NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)	KCNJ11 (E205K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 799596	NM_000525.4(KCNJ11):c.912C>T (p.Tyr304=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 797832	NM_000525.4(KCNJ11):c.291C>T (p.His97=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 795972	NM_000525.4(KCNJ11):c.579C>T (p.His193=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 795264	NM_000525.4(KCNJ11):c.1077G>A (p.Leu359=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 793271	NM_000525.4(KCNJ11):c.561G>A (p.Ala187=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 792496	NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 792463	NM_000525.4(KCNJ11):c.480C>T (p.Asn160=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 763632	NM_000525.4(KCNJ11):c.762G>A (p.Pro254=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 742370	NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 737130	NM_000525.4(KCNJ11):c.894C>T (p.Thr298=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 729862	NM_000525.4(KCNJ11):c.27C>T (p.Pro9=)	KCNJ11	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 723182	NM_000525.4(KCNJ11):c.1062C>T (p.Ser354=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 642470	NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)	KCNJ11 (R214C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617651	NM_000525.4(KCNJ11):c.697C>T (p.Leu233Phe)	KCNJ11 (L233F +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13	GLikely pathogenic
Select item 586105	NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)	KCNJ11 (Y258* +1 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 586104	NM_000525.4(KCNJ11):c.541C>T (p.Leu181Phe)	KCNJ11 (L181F +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 586103	NM_000525.4(KCNJ11):c.245G>A (p.Ser82Asn)	KCNJ11 (S82N)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 557803	NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu)	KCNJ11 (P266L +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +3 more	GUncertain significance
Select item 555590	NM_000525.4(KCNJ11):c.718dup (p.Met240fs)	KCNJ11 (M153fs +1 more)	Duplication (frameshift variant)	Diabetes mellitus, transient neonatal, 3 +5 more	GConflicting classifications of pathogenicity
Select item 553627	NM_000525.4(KCNJ11):c.-54C>T	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +6 more	GUncertain significance
Select item 553036	NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)	KCNJ11 (R347H +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +10 more	GUncertain significance
Select item 552596	NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)	KCNJ11 (V285I +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +7 more	GUncertain significance
Select item 552375	NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)	KCNJ11 (A101D +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 551926	NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser)	KCNJ11 (G98S +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +6 more	GUncertain significance
Select item 551187	NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)	KCNJ11 (A187V +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 478917	NM_000525.4(KCNJ11):c.967dup (p.Asp323fs)	KCNJ11 (D236fs +1 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 447637	NM_000525.4(KCNJ11):c.980C>A (p.Ser327Tyr)	KCNJ11 (S327Y +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 447636	NM_000525.4(KCNJ11):c.532del (p.Ala178fs)	KCNJ11 (A91fs +1 more)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 447634	NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)	KCNJ11 (R54C)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 441000	NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)	KCNJ11 (R16H)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GUncertain significance
Select item 435559	NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)	KCNJ11 (T62M)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 435555	NM_001166290.2(KCNJ11):c.-17+514C>T	KCNJ11	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 387867	NM_000525.4(KCNJ11):c.903C>T (p.Arg301=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 303745	NM_000525.4(KCNJ11):c.-559G>C	ABCC8, KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Transient Neonatal Diabetes, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 303744	NM_000525.4(KCNJ11):c.-546G>T	KCNJ11	Single nucleotide variant (intron variant +1 more)	Maturity-onset diabetes of the young type 13 +3 more	GUncertain significance
Select item 303743	NM_000525.4(KCNJ11):c.-515G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303742	NM_000525.4(KCNJ11):c.-498T>C	ABCC8, KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism, Dominant/Recessive +7 more	GConflicting classifications of pathogenicity
Select item 303741	NM_000525.4(KCNJ11):c.-179C>T	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303739	NM_000525.4(KCNJ11):c.-150G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 13 +5 more	GUncertain significance
Select item 303738	NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 303735	NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303734	NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)	KCNJ11 (T345M +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303733	NM_000525.4(KCNJ11):c.*40C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 303732	NM_000525.4(KCNJ11):c.*50G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303730	NM_000525.4(KCNJ11):c.*76G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303729	NM_000525.4(KCNJ11):c.*92C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303728	NM_000525.4(KCNJ11):c.*99C>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303726	NM_000525.4(KCNJ11):c.*218G>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +5 more	GUncertain significance
Select item 303725	NM_000525.4(KCNJ11):c.*288G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303724	NM_000525.4(KCNJ11):c.*311C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303723	NM_000525.4(KCNJ11):c.*376C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303721	NM_000525.4(KCNJ11):c.*487A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303720	NM_000525.4(KCNJ11):c.*529G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303719	NM_000525.4(KCNJ11):c.*546G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303718	NM_000525.4(KCNJ11):c.*678C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303717	NM_000525.4(KCNJ11):c.*686A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303716	NM_000525.4(KCNJ11):c.*697G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303715	NM_000525.4(KCNJ11):c.*701A>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303714	NM_000525.4(KCNJ11):c.*732C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 303713	NM_000525.4(KCNJ11):c.826_827dup	KCNJ11	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 303712	NM_000525.4(KCNJ11):c.*862G>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 303711	NM_000525.4(KCNJ11):c.*937C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303710	NM_000525.4(KCNJ11):c.*1055T>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 303709	NM_000525.4(KCNJ11):c.*1168G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +4 more	GConflicting classifications of pathogenicity
Select item 303708	NM_000525.4(KCNJ11):c.*1197G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 303707	NM_000525.4(KCNJ11):c.*1562A>G	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GUncertain significance
Select item 287827	NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)	KCNJ11 (R365C +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 284188	NM_000525.4(KCNJ11):c.719T>G (p.Met240Arg)	KCNJ11 (M240R +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 284061	NM_000525.4(KCNJ11):c.581GCC[1] (p.Arg195del)	KCNJ11 (R195del +1 more)	Microsatellite (inframe_deletion)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 256362	NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 13 +6 more	GConflicting classifications of pathogenicity
Select item 211231	NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)	KCNJ11 (G312S +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance

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