ClinVar for MedGen (Select 371484) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384195	NC_000011.10:g.17445123_17455212del	ABCC8	Deletion	Permanent neonatal diabetes mellitus	GPathogenic
Select item 1338472	NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)	ABCC8, LOC110121471 (R824W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
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 1065989	NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)	KCNJ11 (R136fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992030	NM_000525.4(KCNJ11):c.558T>C (p.His186=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
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)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 992027	NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)	KCNJ11	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
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 992025	NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys)	KCNJ11 (N248K +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 992024	NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys)	KCNJ11 (R282C +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 992023	NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)	KCNJ11 (V286M +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 992022	NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser)	KCNJ11 (A289S +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 989949	NM_000525.4(KCNJ11):c.-6G>A	KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Permanent neonatal diabetes mellitus	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 989947	NM_000525.4(KCNJ11):c.49C>T (p.Leu17=)	KCNJ11	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989944	NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg)	KCNJ11 (S103R +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 972983	NM_000162.5(GCK):c.1085C>T (p.Thr362Ile)	GCK (T362I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance/Uncertain risk allele
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 930255	NM_000352.6(ABCC8):c.3399+6G>A	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 911818	NM_000162.5(GCK):c.-279C>T	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 911766	NM_000162.5(GCK):c.10G>A (p.Asp4Asn)	GCK (D4N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benignFDA Recognized database
Select item 911631	NM_000162.5(GCK):c.649G>A (p.Asp217Asn)	GCK (D218N +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenignFDA Recognized database
Select item 911565	NM_000162.5(GCK):c.1253+12C>T	GCK	Single nucleotide variant (intron variant)	Hyperinsulinism due to glucokinase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 910637	NM_000162.5(GCK):c.-456G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 910586	NM_000162.5(GCK):c.-267G>T	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +5 more	GBenign/Likely benign
Select item 910585	NM_000162.5(GCK):c.-217C>G	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +5 more	GBenign/Likely benign
Select item 910410	NM_000162.5(GCK):c.675C>T (p.Ile225=)	GCK	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to glucokinase deficiency +3 more	GUncertain significance
Select item 910353	NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)	GCK (E421G +5 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency +3 more	GUncertain significance
Select item 909717	NM_000162.5(GCK):c.-455A>G	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 2 +5 more	GConflicting classifications of pathogenicity
Select item 909652	NM_000162.5(GCK):c.-215A>G	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 2 +5 more	GBenign/Likely benign
Select item 909651	NM_000162.5(GCK):c.-137C>G	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 909540	NM_000162.5(GCK):c.435C>G (p.Pro145=)	GCK	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 909539	NM_000162.5(GCK):c.483+3G>A	GCK	Single nucleotide variant (intron variant)	Hyperinsulinism due to glucokinase deficiency +5 more	GConflicting classifications of pathogenicity
Select item 909472	NM_000162.5(GCK):c.680-14G>C	GCK	Single nucleotide variant (intron variant)	Hyperinsulinism due to glucokinase deficiency +5 more	GConflicting classifications of pathogenicity
Select item 909471	NM_000162.5(GCK):c.792C>A (p.Gly264=)	GCK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 2 +3 more	GUncertain significance
Select item 908863	NM_000162.5(GCK):c.-449G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Permanent neonatal diabetes mellitus +3 more	GUncertain significance
Select item 908862	NM_000162.5(GCK):c.-396C>G	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 908804	NM_000162.5(GCK):c.-102G>C	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +3 more	GUncertain significance
Select item 908803	NM_000162.5(GCK):c.-84C>G	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +5 more	GBenign
Select item 908684	NM_000162.5(GCK):c.580-11C>T	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance/Uncertain risk allele
Select item 908615	NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)	GCK (T341P +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GBenignFDA Recognized database
Select item 908614	NM_000162.5(GCK):c.1120G>T (p.Val374Leu)	GCK (V373L +4 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinism due to glucokinase deficiency +3 more	GUncertain significance
Select item 880248	NM_000352.6(ABCC8):c.74G>T (p.Gly25Val)	ABCC8 (G25V)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GUncertain significance
Select item 880150	NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)	ABCC8 (Y263D)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GUncertain significance
Select item 880040	NM_000352.6(ABCC8):c.1924-9C>T	ABCC8 (H661Y)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 879979	NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)	ABCC8 (W738C +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +7 more	GUncertain significance
Select item 879829	NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)	ABCC8 (Y1294D +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +4 more	GUncertain significance
Select item 879518	NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 879471	NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)	ABCC8 (L1328I +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GUncertain significance
Select item 879032	NM_000352.6(ABCC8):c.148+3G>A	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +4 more	GUncertain significance
Select item 878978	NM_000352.6(ABCC8):c.507C>T (p.Phe169=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 878930	NM_000352.6(ABCC8):c.933G>C (p.Leu311=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 878825	NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)	ABCC8 (I1455V +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +4 more	GUncertain significance
Select item 878824	NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 878390	NM_000352.6(ABCC8):c.580-7C>A	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 878389	NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)	ABCC8 (I196N)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 878388	NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)	ABCC8 (P207L)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 878289	NM_000352.6(ABCC8):c.1630+8C>T	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 878288	NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)	ABCC8 (T548M +1 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 878111	NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 877890	NM_000352.6(ABCC8):c.3650+4C>G	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 877783	NM_000352.6(ABCC8):c.4545+9T>C	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 877363	NM_000352.6(ABCC8):c.621C>T (p.Pro207=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 877362	NM_000352.6(ABCC8):c.723C>T (p.His241=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 877361	NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)	ABCC8 (I245T)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 877310	NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +4 more	GUncertain significance
Select item 877309	NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 877308	NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)	ABCC8 (L427V +1 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +4 more	GUncertain significance
Select item 877186	NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GUncertain significance
Select item 877185	NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)	ABCC8 (A736S +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +8 more	GUncertain significance
Select item 804977	NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)	KCNJ11 (E205K +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 795972	NM_000525.4(KCNJ11):c.579C>T (p.His193=)	KCNJ11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 793518	NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +7 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 792785	NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 792496	NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)	KCNJ11	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 763411	NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GConflicting classifications of pathogenicity
Select item 752205	NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=)	KCNJ11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 750621	NM_000525.4(KCNJ11):c.309C>T (p.Ser103=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 748518	NM_000162.5(GCK):c.363+9C>T	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 737130	NM_000525.4(KCNJ11):c.894C>T (p.Thr298=)	KCNJ11	Single nucleotide variant (synonymous variant)	not specified +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 702557	NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 632057	NM_000352.6(ABCC8):c.343A>G (p.Met115Val)	ABCC8 (M115V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 626220	NM_000207.3(INS):c.26C>G (p.Pro9Arg)	INS, INS-IGF2 (P9R)	Single nucleotide variant (missense variant +1 more)	Neonatal insulin-dependent diabetes mellitus	GLikely risk allele
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 585914	NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)	GCK (T437I +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 585344	NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)	ABCC8 (T1068M +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 558717	NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)	ABCC8 (K889T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 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)	Maturity onset diabetes mellitus in young +6 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)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 557649	NM_000525.4(KCNJ11):c.290dup (p.His97fs)	KCNJ11 (H97fs +1 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +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)	not provided +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)	Hyperinsulinemic hypoglycemia, familial, 2 +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)	Diabetes mellitus, permanent neonatal 2 +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)	Hyperinsulinemic hypoglycemia, familial, 2 +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)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GConflicting classifications of pathogenicity

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