ClinVar (all) for Orgtrack (Select 508703) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700684	NM_000162.5(GCK):c.878T>G (p.Ile293Arg)	GCK (I292R +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1700683	NM_000162.5(GCK):c.864-1G>C	GCK (S3T)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1700682	NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)	HNF4A (K154Q +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 1700681	NM_000162.5(GCK):c.580-13_580-1del	GCK	Deletion (splice acceptor variant)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1700680	NM_000162.5(GCK):c.484-2A>G	GCK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1700679	NM_000162.5(GCK):c.461T>C (p.Val154Ala)	GCK (V153A +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1700678	NM_000162.5(GCK):c.351_358del (p.Thr118fs)	GCK (T117fs +2 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1700677	NM_000162.5(GCK):c.296G>A (p.Trp99Ter)	GCK (W100* +2 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1700676	NM_000162.5(GCK):c.209-1G>A	GCK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1700675	NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)	GCK (R100W +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1700674	NM_000162.5(GCK):c.1247A>G (p.His416Arg)	GCK (H36R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1700673	NM_000162.5(GCK):c.122T>G (p.Met41Arg)	GCK (M40R +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1700672	NM_000162.5(GCK):c.1019+2T>C	GCK	Single nucleotide variant (splice donor variant +1 more)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1700671	NM_000545.8(HNF1A):c.347C>T (p.Ala116Val)	HNF1A (A116V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1700670	NM_000545.8(HNF1A):c.1726C>T (p.Gln576Ter)	HNF1A (Q576* +1 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1700669	NM_175914.5(HNF4A):c.1086dup (p.Ala363fs)	HNF4A (A360fs +3 more)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1700668	NM_000545.8(HNF1A):c.1623+1G>T	HNF1A	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1700667	NM_000545.8(HNF1A):c.1487_1494del (p.Leu496fs)	HNF1A (L496fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1700666	NM_000545.8(HNF1A):c.1469T>G (p.Met490Arg)	HNF1A (M490R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GLikely pathogenic
Select item 1700665	NM_000545.8(HNF1A):c.1456del (p.Gln486fs)	HNF1A (Q486fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1700664	NM_000545.8(HNF1A):c.1193A>C (p.Gln398Pro)	HNF1A (Q398P)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GLikely pathogenic
Select item 1700663	NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)	HNF4A (W324* +3 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic
Select item 1700662	NM_175914.5(HNF4A):c.1064-1G>T	HNF4A	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1700661	NM_175914.5(HNF4A):c.823C>T (p.Pro275Ser)	HNF4A (P272S +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 1700660	NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)	HNF4A (E260Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1700659	NM_175914.5(HNF4A):c.537G>A (p.Trp179Ter)	HNF4A (W176* +3 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1700658	NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr)	HNF4A (D342Y +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1698944	NM_000162.5(GCK):c.641dup (p.Tyr214Ter)	GCK (Y213* +2 more)	Duplication (nonsense)	Maturity-onset diabetes of the young type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1679553	NM_000162.5(GCK):c.208+2T>C	GCK	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 2	GPathogenic/Likely pathogenic
Select item 1676688	NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu)	HNF1A (G65E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1457657	NM_175914.5(HNF4A):c.352C>T (p.Arg118Ter)	HNF4A (R118* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1399408	NM_175914.5(HNF4A):c.530T>C (p.Val177Ala)	HNF4A (V192A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1338628	NM_175914.5(HNF4A):c.614A>C (p.His205Pro)	HNF4A (H202P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1338576	NM_000162.5(GCK):c.158C>T (p.Ala53Val)	GCK (A54V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1328238	NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)	HNF1A (P289fs)	Insertion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1327600	NM_000545.8(HNF1A):c.781G>A (p.Glu261Lys)	HNF1A (E261K)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1324537	NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter)	HNF4A (R397* +3 more)	Single nucleotide variant (nonsense +1 more)	Maturity-onset diabetes of the young type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1315998	NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)	C12orf43, HNF1A (S594I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1313336	NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg)	HNF4A (G206R +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1303095	NM_000162.5(GCK):c.878T>C (p.Ile293Thr)	GCK (I292T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1186689	NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)	HNF4A (R228W +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 1172896	NM_000162.5(GCK):c.660C>A (p.Cys220Ter)	GCK (C219* +2 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 994902	NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)	HNF4A (V105I +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972812	NM_000162.5(GCK):c.316C>T (p.Gln106Ter)	GCK (Q107* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 972810	NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)	HNF4A (R306L +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 972778	NM_000162.5(GCK):c.1019G>T (p.Ser340Ile)	GCK (S341I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 972766	NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter)	HNF1A (Q466*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic
Select item 972751	NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)	HNF1A (V115L)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 929078	NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)	HNF1A (E18*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 804918	NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	HNF4A (R312H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804849	NM_000162.5(GCK):c.562G>A (p.Ala188Thr)	GCK (A187T +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +2 more	GPathogenic
Select item 802309	NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)	GCK (Y60* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 617650	NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	HNF1A (Q444fs)	Microsatellite (frameshift variant)	Maturity-onset diabetes of the young type 3 +2 more	GPathogenic/Likely risk allele
Select item 586794	NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	HNF1A (A209E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 586023	NM_175914.5(HNF4A):c.932G>A (p.Arg311His)	HNF4A (R308H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 585930	NM_000162.5(GCK):c.98T>C (p.Val33Ala)	GCK (V33A +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity
Select item 585928	NM_000162.5(GCK):c.863+1G>A	GCK	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 2 +1 more	GPathogenic/Likely pathogenic
Select item 585911	NM_000162.5(GCK):c.127C>T (p.Arg43Cys)	GCK (R43C +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 585909	NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)	GCK (R392C +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 488812	NM_000162.5(GCK):c.483+2T>C	GCK	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely pathogenic
Select item 449414	NM_000162.5(GCK):c.580-1G>A	GCK	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 2 +1 more	GPathogenic
Select item 449403	NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	HNF1A (R271Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 449035	NM_000545.8(HNF1A):c.527-1G>A	HNF1A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447426	NM_000162.5(GCK):c.951C>G (p.His317Gln)	GCK (H317Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinism due to glucokinase deficiency +5 more	GConflicting classifications of pathogenicity
Select item 447419	NM_000162.5(GCK):c.793G>A (p.Glu265Lys)	GCK (E265K +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency +4 more	GPathogenic
Select item 447404	NM_000162.5(GCK):c.478G>A (p.Asp160Asn)	GCK (D160N +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 435436	NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)	HNF4A (R64Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 435298	NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)	GCK (S441L +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 431973	NM_000162.5(GCK):c.106C>T (p.Arg36Trp)	GCK (R36W +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 431972	NM_000162.5(GCK):c.566T>C (p.Ile189Thr)	GCK (I189T +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 429750	NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)	HNF1A (R159W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 427034	NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)	HNF4A (R109Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 426122	NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	GCK (R191W +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 424599	NM_175914.5(HNF4A):c.926G>A (p.Arg309His)	HNF4A (R306H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 424481	NM_000162.5(GCK):c.137G>T (p.Arg46Met)	GCK (R46M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420064	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A (R229*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 393453	NM_000162.5(GCK):c.128G>A (p.Arg43His)	GCK (R43H +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 393451	NM_000162.5(GCK):c.748C>T (p.Arg250Cys)	GCK (R250C +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 379904	NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	HNF1A (R229Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 372380	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	HNF1A (Q176*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 283358	NM_000162.5(GCK):c.572G>A (p.Arg191Gln)	GCK (R192Q +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 211073	NM_000162.5(GCK):c.370G>A (p.Asp124Asn)	GCK (D124N +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 129235	NM_000545.8(HNF1A):c.608G>A (p.Arg203His)	HNF1A (R203H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 129144	NM_000162.5(GCK):c.544G>A (p.Val182Met)	GCK (V182M +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GPathogenic
Select item 76898	NM_000162.5(GCK):c.130G>A (p.Gly44Ser)	GCK (G44S +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GPathogenic/Likely pathogenic
Select item 36824	NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	HNF1A (R200W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36364	NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	HNF4A (R309C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36265	NM_000162.5(GCK):c.917T>C (p.Leu306Pro)	GCK (L306P +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2 +2 more	GConflicting classifications of pathogenicity
Select item 36256	NM_000162.5(GCK):c.76C>T (p.Gln26Ter)	GCK (Q26* +2 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely pathogenic
Select item 36243	NM_000162.5(GCK):c.676G>A (p.Val226Met)	GCK (V226M +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36241	NM_000162.5(GCK):c.661G>A (p.Glu221Lys)	GCK (E221K +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36200	NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	GCK (S453L +5 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 16138	NM_000162.5(GCK):c.391T>C (p.Ser131Pro)	GCK (S131P +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency +4 more	GLikely pathogenic
Select item 16135	NM_000162.5(GCK):c.781G>A (p.Gly261Arg)	GCK (G261R +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 16134	NM_000162.5(GCK):c.683C>T (p.Thr228Met)	GCK (T228M +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 16133	NM_000162.5(GCK):c.556C>T (p.Arg186Ter)	GCK (R186* +2 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +3 more	GPathogenic
Select item 14943	NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)	HNF1A (R131W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database

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Items: 97