ClinVar for MedGen (Select 419173) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1691377	NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)	KCNJ11 (M137I +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 1338240	NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)	KCNJ11 (R282L +1 more)	Single nucleotide variant (missense variant)	not specified +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)	not specified +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)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GPathogenic/Likely pathogenic
Select item 1162197	NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)	KCNJ11 (R119H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1129906	NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)	KCNJ11	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GLikely benign
Select item 1115326	NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia, familial, 2 +6 more	GLikely benign
Select item 1108601	NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)	KCNJ11 (K23E)	Inversion (missense variant +2 more)	Hyperinsulinemic hypoglycemia, familial, 2 +5 more	GLikely benign
Select item 1065467	NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)	KCNJ11 (A28V)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 2	GUncertain significance
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)	Diabetes mellitus, transient neonatal, 3 +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 988945	NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)	KCNJ11 (T211del +1 more)	Microsatellite (inframe_deletion)	Maturity onset diabetes mellitus in young	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, permanent neonatal 2 +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)	Diabetes mellitus, transient neonatal, 3 +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)	Diabetes mellitus, transient neonatal, 3 +3 more	GConflicting classifications of pathogenicity
Select item 877617	NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)	KCNJ11	Single nucleotide variant (synonymous variant)	Diabetes mellitus, transient neonatal, 3 +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 mellitus in young +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)	Maturity-onset diabetes of the young type 13 +3 more	GConflicting classifications of pathogenicity
Select item 694392	NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)	KCNJ11 (L122P +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 558072	NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)	KCNJ11 (R136H +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GConflicting classifications of pathogenicity
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 557649	NM_000525.4(KCNJ11):c.290dup (p.His97fs)	KCNJ11 (H97fs +1 more)	Duplication (frameshift variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 557416	NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)	KCNJ11 (R34C)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 557258	NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)	KCNJ11 (C166* +1 more)	Single nucleotide variant (nonsense)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 556784	NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)	KCNJ11 (R221H +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +8 more	GUncertain significance
Select item 556175	NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)	KCNJ11 (R206L +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 556063	NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)	KCNJ11 (L35fs +1 more)	Microsatellite (frameshift variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 555940	NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)	KCNJ11 (R176H +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus, transient neonatal, 3 +6 more	GUncertain significance
Select item 555827	NM_000525.4(KCNJ11):c.841_843del (p.Leu281del)	KCNJ11 (L281del +1 more)	Deletion (inframe_deletion)	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 555247	NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)	KCNJ11 (L356fs +1 more)	Duplication (frameshift variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 554088	NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His)	KCNJ11 (R371H +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +3 more	GUncertain significance
Select item 553835	NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile)	KCNJ11 (M88I +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +3 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)	Monogenic diabetes +10 more	GUncertain significance
Select item 553023	NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)	KCNJ11 (Y258fs +1 more)	Duplication (frameshift variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 552596	NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)	KCNJ11 (V285I +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +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)	Diabetes mellitus, transient neonatal, 3 +6 more	GUncertain significance
Select item 551506	NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)	KCNJ11 (R365H +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +3 more	GUncertain significance
Select item 551373	NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)	KCNJ11 (G40D)	Single nucleotide variant (missense variant +1 more)	KCNJ11-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 551187	NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)	KCNJ11 (A187V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 551025	NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg)	KCNJ11 (G324R +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 550508	NM_000525.4(KCNJ11):c.-135_-134insCT	KCNJ11	Insertion (5 prime UTR variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GUncertain significance
Select item 550169	NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)	KCNJ11 (V339G +1 more)	Single nucleotide variant (missense variant)	KCNJ11-related disorder +6 more	GUncertain significance
Select item 441000	NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)	KCNJ11 (R16H)	Single nucleotide variant (missense variant +2 more)	Diabetes mellitus, transient neonatal, 3 +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)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 435556	NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)	KCNJ11 (V290M +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 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)	Hyperinsulinemic hypoglycemia, familial, 2 +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)	Maturity-onset diabetes of the young type 13 +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)	Maturity-onset diabetes of the young type 13 +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 mellitus in young +4 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)	Maturity-onset diabetes of the young type 13 +4 more	GBenign/Likely benign
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 303722	NM_000525.4(KCNJ11):c.*441T>C	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 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

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