ClinVar for MedGen (Select 87434) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242051	NM_000162.5(GCK):c.364-8del	GCK	Deletion (intron variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 3236689	NM_000162.5(GCK):c.242G>A (p.Gly81Asp)	GCK (G80D +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 3234078	NM_000162.5(GCK):c.612T>A (p.Asn204Lys)	GCK (N203K +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 3066162	NM_000162.5(GCK):c.118G>T (p.Glu40Ter)	GCK (E39* +2 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 2920726	NM_000162.5(GCK):c.799G>C (p.Asp267His)	GCK (D266H +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 2664850	NM_000162.5(GCK):c.554T>C (p.Leu185Pro)	GCK (L184P +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 2664370	NM_000162.5(GCK):c.1133C>A (p.Ala378Asp)	GCK (A377D +4 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2	GPathogenic FDA Recognized database
Select item 2628361	NM_000162.5(GCK):c.1297_1300dup (p.Cys434Ter)	GCK (C112* +5 more)	Duplication (nonsense)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 2628360	NM_000162.5(GCK):c.1305dup (p.Ile436fs)	GCK (I114fs +5 more)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 2627074	NM_000162.5(GCK):c.679+1G>C	GCK	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 2582713	NM_000162.5(GCK):c.950A>C (p.His317Pro)	GCK (H316P +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 2581127	NM_000162.5(GCK):c.1303_1306dup (p.Ile436fs)	GCK (I114fs +5 more)	Microsatellite (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 2580856	NM_000162.5(GCK):c.580-3C>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 2576969	NM_000162.5(GCK):c.317A>C (p.Gln106Pro)	GCK (Q105P +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 2571659	NM_000162.5(GCK):c.1256del (p.Phe419fs)	GCK (F39fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GPathogenic FDA Recognized database
Select item 2571656	NM_000162.5(GCK):c.1261G>T (p.Glu421Ter)	GCK (E41* +5 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 2	GPathogenic FDA Recognized database
Select item 2571655	NM_000162.5(GCK):c.1378del (p.Ala460fs)	GCK (A123fs +4 more)	Deletion (frameshift variant +1 more)	Maturity-onset diabetes of the young type 2	GPathogenic FDA Recognized database
Select item 2571653	NM_000162.5(GCK):c.1309_1310del (p.Thr437fs)	GCK (T100fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GPathogenic FDA Recognized database
Select item 2571644	NM_000162.5(GCK):c.1307_1319del (p.Ile436fs)	GCK (I114fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 2500233	NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)	GCK (M40fs +2 more)	Insertion (frameshift variant)	Hyperinsulinism due to glucokinase deficiency +3 more	GLikely pathogenic
Select item 2500039	NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)	GCK (D77Y +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency +3 more	GUncertain significance
Select item 2441736	NM_000162.5(GCK):c.692A>T (p.Asn231Ile)	GCK (N230I +2 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus 1 +3 more	GUncertain significance
Select item 2431839	NM_000162.5(GCK):c.579+4del	GCK	Deletion (intron variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2136506	NM_000162.5(GCK):c.1232C>T (p.Ser411Phe)	GCK (S31F +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GLikely pathogenic
Select item 1803833	NM_000162.5(GCK):c.278A>C (p.Glu93Ala)	GCK (E92A +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency +2 more	GUncertain significance
Select item 1803248	NM_000162.5(GCK):c.940del (p.Leu314fs)	GCK (L313fs +2 more)	Deletion (frameshift variant +1 more)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1803244	NM_000162.5(GCK):c.397T>G (p.Phe133Val)	GCK (F132V +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 1723231	NM_000162.5(GCK):c.245C>T (p.Thr82Ile)	GCK (T81I +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1709898	NM_000162.5(GCK):c.866A>G (p.Tyr289Cys)	GCK (Y288C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1709882	NM_000162.5(GCK):c.785dup (p.Asp262fs)	GCK (D261fs +2 more)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1709730	NM_000162.5(GCK):c.1270C>T (p.His424Tyr)	GCK (H102Y +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1709689	NM_000162.5(GCK):c.150dup (p.Glu51Ter)	GCK (E50* +2 more)	Duplication (nonsense)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1709688	NM_000162.5(GCK):c.149A>T (p.His50Leu)	GCK (H49L +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 1709327	NM_000162.5(GCK):c.469G>T (p.Glu157Ter)	GCK (E156* +2 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1709202	NM_000162.5(GCK):c.1145G>C (p.Cys382Ser)	GCK (C2S +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1707504	NM_000162.5(GCK):c.881G>T (p.Gly294Val)	GCK (G293V +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1705456	NM_000162.5(GCK):c.374A>G (p.Tyr125Cys)	GCK (Y124C +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
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 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 mellitus in young +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 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 1685845	NM_000162.5(GCK):c.501G>C (p.Trp167Cys)	GCK (W166C +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1685328	NM_000162.5(GCK):c.917T>A (p.Leu306Gln)	GCK (L305Q +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1685327	NM_000162.5(GCK):c.1017G>C (p.Glu339Asp)	GCK (E338D +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1679555	NM_000162.5(GCK):c.524G>C (p.Gly175Ala)	GCK (G174A +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1679554	NM_000162.5(GCK):c.485G>A (p.Gly162Asp)	GCK (G161D +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely 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 1679552	NM_000162.5(GCK):c.208G>A (p.Glu70Lys)	GCK (E69K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1679551	NM_000162.5(GCK):c.102G>A (p.Met34Ile)	GCK (M33I +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1679549	NM_000162.5(GCK):c.475A>G (p.Ile159Val)	GCK (I158V +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +3 more	GLikely pathogenic
Select item 1679548	NM_000162.5(GCK):c.1312T>G (p.Phe438Val)	GCK (F101V +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1679547	NM_000162.5(GCK):c.1079C>A (p.Ser360Ter)	GCK (S23* +4 more)	Single nucleotide variant (nonsense +1 more)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1679546	NM_000162.5(GCK):c.941T>G (p.Leu314Arg)	GCK (L313R +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1679545	NM_000162.5(GCK):c.771G>A (p.Trp257Ter)	GCK (W256* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1679544	NM_000162.5(GCK):c.614A>T (p.Asp205Val)	GCK (D204V +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1679543	NM_000162.5(GCK):c.614A>G (p.Asp205Gly)	GCK (D204G +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1679542	NM_000162.5(GCK):c.52C>T (p.Gln18Ter)	GCK (Q17* +2 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1678750	NM_000162.5(GCK):c.46-5598A>T	GCK	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1678597	NM_000162.5(GCK):c.751A>G (p.Met251Val)	GCK (M250V +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GPathogenic
Select item 1636430	NM_000162.5(GCK):c.579+12C>G	GCK	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 1592426	NM_000162.5(GCK):c.270G>A (p.Lys90=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +5 more	GLikely benign
Select item 1526254	NM_000162.5(GCK):c.1251del (p.Ser418fs)	GCK (S38fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic
Select item 1464253	NM_000162.5(GCK):c.671T>C (p.Met224Thr)	GCK (M224T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1447652	NM_000162.5(GCK):c.551T>C (p.Leu184Pro)	GCK (L183P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1301411	NM_000162.5(GCK):c.1278_1279del (p.Val427fs)	GCK (V105fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1210150	NM_000162.5(GCK):c.386G>A (p.Cys129Tyr)	GCK (C128Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1188508	NM_000162.5(GCK):c.483+26C>A	GCK	Single nucleotide variant (intron variant)	GCK-related disorder +5 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 1162782	NM_003355.3(UCP2):c.685A>G (p.Thr229Ala)	UCP2 (T164A +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely benign
Select item 1162208	NM_175914.5(HNF4A):c.965T>G (p.Leu322Trp)	HNF4A (L319W +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 1098819	NM_000162.5(GCK):c.1139A>C (p.His380Pro)	GCK (H379P +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1028584	NM_000162.5(GCK):c.415A>T (p.Met139Leu)	GCK (M139L +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 997861	NM_000162.5(GCK):c.491T>C (p.Leu164Pro)	GCK (L163P +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 995104	NM_000162.5(GCK):c.1284_1362del (p.Arg429fs)	GCK (R107fs +5 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 995103	NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs)	GCK (R107fs +5 more)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 995102	NM_000162.5(GCK):c.1190G>A (p.Arg397His)	GCK (R17H +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely pathogenic FDA Recognized database
Select item 995099	NM_000162.5(GCK):c.115_117del (p.Lys39del)	GCK (K38del +2 more)	Deletion (inframe_deletion)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 981653	NM_000162.5(GCK):c.1178T>C (p.Met393Thr)	GCK (M13T +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic/Likely risk allele
Select item 976334	NM_000162.5(GCK):c.214G>C (p.Gly72Arg)	GCK (G71R +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GPathogenic
Select item 976272	NM_000162.5(GCK):c.529_530delinsTT (p.Glu177Leu)	GCK (E176L +2 more)	Indel (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GUncertain significance/Uncertain risk allele
Select item 975874	NM_000162.5(GCK):c.35A>G (p.Lys12Arg)	GCK (K12R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 973191	NM_000162.5(GCK):c.1148del (p.Ser383fs)	GCK (S382fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 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 972809	NM_000162.5(GCK):c.107G>A (p.Arg36Gln)	GCK (R35Q +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GUncertain significance/Uncertain risk allele
Select item 972808	NM_000162.5(GCK):c.207A>G (p.Ser69=)	GCK	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 972807	NM_000162.5(GCK):c.394G>A (p.Asp132Asn)	GCK (D133N +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 972806	NM_000162.5(GCK):c.577G>C (p.Gly193Arg)	GCK (G194R +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GUncertain significance
Select item 972805	NM_000162.5(GCK):c.709G>A (p.Glu237Lys)	GCK (E236K +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance/Uncertain risk allele

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