ClinVar for MedGen (Select 897640) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1691377	NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)	KCNJ11 (M137I +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +5 more	GUncertain significance
Select item 1338465	NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys)	KCNJ11 (S244C +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13 +2 more	GUncertain significance
Select item 1338240	NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)	KCNJ11 (R282L +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GUncertain significance
Select item 1336017	NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)	KCNJ11 (S118L +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +5 more	GUncertain significance
Select item 1219242	NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)	KCNJ11 (R34H)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 1129906	NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)	KCNJ11	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 2 +5 more	GLikely benign
Select item 1115326	NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1108601	NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)	KCNJ11 (K23E)	Inversion (missense variant +2 more)	not provided +5 more	GLikely benign
Select item 1034248	NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)	KCNJ11 (R227H +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +6 more	GUncertain significance
Select item 992026	NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)	KCNJ11 (T215I +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance
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 917414	NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)	KCNJ11 (Q261H +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +6 more	GUncertain significance
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 877702	NM_000525.4(KCNJ11):c.451G>A (p.Val151Met)	KCNJ11 (V151M +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
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 877473	NM_000525.4(KCNJ11):c.*1415G>A	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 13 +2 more	GUncertain significance
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 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 556784	NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)	KCNJ11 (R221H +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 555940	NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)	KCNJ11 (R176H +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +6 more	GUncertain significance
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)	not specified +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)	Maturity onset diabetes mellitus in young +7 more	GUncertain significance
Select item 552480	NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)	KCNJ11 (R192H +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
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)	Maturity onset diabetes mellitus in young +6 more	GUncertain significance
Select item 550169	NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)	KCNJ11 (V339G +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +6 more	GUncertain significance
Select item 478917	NM_000525.4(KCNJ11):c.967dup (p.Asp323fs)	KCNJ11 (D236fs +1 more)	Duplication (frameshift variant)	Type 2 diabetes mellitus +2 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)	Hyperinsulinemic hypoglycemia, familial, 2 +6 more	GUncertain significance
Select item 435560	NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)	KCNJ11 (R325S +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GUncertain significance
Select item 435558	NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)	KCNJ11 (R136C +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GPathogenic/Likely pathogenic
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 303740	NM_000525.4(KCNJ11):c.-154G>T	ABCC8, KCNJ11	Single nucleotide variant (intron variant +1 more)	Maturity-onset diabetes of the young type 13 +6 more	GConflicting classifications of pathogenicity
Select item 303739	NM_000525.4(KCNJ11):c.-150G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GUncertain significance
Select item 303737	NM_000525.4(KCNJ11):c.525C>A (p.His175Gln)	KCNJ11 (H175Q +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +2 more	GUncertain significance
Select item 303736	NM_000525.4(KCNJ11):c.741C>T (p.Asn247=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +4 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 303731	NM_000525.4(KCNJ11):c.*62G>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 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 303727	NM_000525.4(KCNJ11):c.*215C>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 303726	NM_000525.4(KCNJ11):c.*218G>T	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +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 303722	NM_000525.4(KCNJ11):c.*441T>C	KCNJ11	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 2 +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 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)	Hyperinsulinemic hypoglycemia, familial, 2 +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 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)	Maturity-onset diabetes of the young type 13 +6 more	GUncertain significance
Select item 211230	NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)	KCNJ11 (T294M +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 211227	NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)	KCNJ11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 211223	NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys)	KCNJ11 (R176C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 211222	NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)	KCNJ11	Duplication (inframe_insertion)	not specified +7 more	GUncertain significance
Select item 211221	NM_000525.4(KCNJ11):c.108G>A (p.Val36=)	KCNJ11, ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 211220	NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)	KCNJ11 (L355P +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +4 more	GUncertain significance
Select item 193110	NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)	KCNJ11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 158686	NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 158685	NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)	KCNJ11 (L270V +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +7 more	GConflicting classifications of pathogenicity
Select item 158684	NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia, familial, 2 +7 more	GConflicting classifications of pathogenicity
Select item 158682	NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)	KCNJ11 (E227K +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 158680	NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 158675	NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)	KCNJ11 (V155M +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +8 more	GUncertain significance
Select item 158673	NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)	KCNJ11 (R54H)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia +1 more	GConflicting classifications of pathogenicity
Select item 158672	NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)	KCNJ11	Single nucleotide variant (synonymous variant)	Diabetes mellitus, transient neonatal, 3 +5 more	GConflicting classifications of pathogenicity
Select item 158671	NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)	KCNJ11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 158670	NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)	KCNJ11 (V337I +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GBenign/Likely benign
Select item 36430	NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)	KCNJ11 (S385C +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 8686	NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)	KCNJ11 (E282K +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 8683	NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)	KCNJ11 (R301H +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 13 +6 more	GConflicting classifications of pathogenicity

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