"Ambry Genetics"[submitter] AND "GCK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1771481	NM_000162.5(GCK):c.1389G>A (p.Leu463=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1938767	NM_000162.5(GCK):c.1359G>T (p.Ser453=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1770532	NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)	GCK (A113S +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 36198	NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)	GCK (R447G +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely pathogenic
Select item 521398	NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)	GCK (E442K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1769650	NM_000162.5(GCK):c.1310C>G (p.Thr437Ser)	GCK (T100S +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance/Uncertain risk allele
Select item 1769182	NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)	GCK (P52fs +5 more)	Indel (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1769016	NM_000162.5(GCK):c.1288C>G (p.Leu430Val)	GCK (L429V +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
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 1763107	NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)	GCK (K83N +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 129147	NM_000162.5(GCK):c.1253+8C>T	GCK	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +6 more	GBenign
Select item 1761162	NM_000162.5(GCK):c.1253+1G>C	GCK	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 736532	NM_000162.5(GCK):c.1233C>G (p.Ser411=)	GCK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 985725	NM_000162.5(GCK):c.1219G>A (p.Gly407Ser)	GCK (G27S +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36187	NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)	GCK (R403G +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1920726	NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)	GCK (S397fs +5 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1742539	NM_000162.5(GCK):c.1182C>T (p.Arg394=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 995101	NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)	GCK (G387D +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1736982	NM_000162.5(GCK):c.1161G>C (p.Ala387=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1735443	NM_000162.5(GCK):c.1156del (p.Leu386fs)	GCK (L387fs +5 more)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 3281010	NM_000162.5(GCK):c.1155G>A (p.Gly385=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 2136509	NM_000162.5(GCK):c.1151C>A (p.Ala384Glu)	GCK (A47E +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1734018	NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)	GCK (A62T +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GConflicting classifications of pathogenicity
Select item 1731302	NM_000162.5(GCK):c.1141_1142del (p.Met381fs)	GCK (M380fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 1730109	NM_000162.5(GCK):c.1137G>A (p.Ala379=)	GCK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 36177	NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)	GCK (A379E +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 36176	NM_000162.5(GCK):c.1130G>A (p.Arg377His)	GCK (R377H +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1727652	NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)	GCK (R40S +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 418228	NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)	GCK (D363N +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1787719	NM_000162.5(GCK):c.1086C>T (p.Thr362=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1785218	NM_000162.5(GCK):c.1077del (p.Ser360fs)	GCK (S359fs +4 more)	Deletion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1787169	NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)	GCK (S335* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 36166	NM_000162.5(GCK):c.1003del (p.Val335fs)	GCK (V334fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1768344	NM_000162.5(GCK):c.982G>T (p.Gly328Ter)	GCK (G327* +2 more)	Single nucleotide variant (nonsense +1 more)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 1767600	NM_000162.5(GCK):c.962_963dup (p.Glu322fs)	GCK (E322fs +2 more)	Duplication (frameshift variant +1 more)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 36269	NM_000162.5(GCK):c.954G>C (p.Gly318=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 2 +6 more	GBenign/Likely benign
Select item 36268	NM_000162.5(GCK):c.952G>T (p.Gly318Trp)	GCK (G318W +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GLikely pathogenic
Select item 435305	NM_000162.5(GCK):c.941T>C (p.Leu314Pro)	GCK (L314P +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2496645	NM_000162.5(GCK):c.921C>G (p.Leu307=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
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 mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 36264	NM_000162.5(GCK):c.907C>T (p.Arg303Trp)	GCK (R303W +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2 +2 more	GLikely pathogenic
Select item 3230480	NM_000162.5(GCK):c.905del (p.Val302fs)	GCK (V301fs +2 more)	Deletion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1764430	NM_000162.5(GCK):c.871A>C (p.Lys291Gln)	GCK (K292Q +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1453774	NM_000162.5(GCK):c.867T>A (p.Tyr289Ter)	GCK (Y289* +2 more)	Single nucleotide variant (nonsense +1 more)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 3230479	NM_000162.5(GCK):c.818A>G (p.Tyr273Cys)	GCK (Y272C +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 985817	NM_000162.5(GCK):c.818A>T (p.Tyr273Phe)	GCK (Y272F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance/Uncertain risk allele
Select item 3230478	NM_000162.5(GCK):c.814G>T (p.Glu272Ter)	GCK (E271* +2 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 36258	NM_000162.5(GCK):c.787T>C (p.Ser263Pro)	GCK (S263P +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +3 more	GPathogenic/Likely 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 447417	NM_000162.5(GCK):c.776C>T (p.Ala259Val)	GCK (A259V +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1760070	NM_000162.5(GCK):c.766G>T (p.Glu256Ter)	GCK (E257* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 265175	NM_000162.5(GCK):c.766G>A (p.Glu256Lys)	GCK (E256K +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +6 more	GPathogenic
Select item 36254	NM_000162.5(GCK):c.760A>C (p.Asn254His)	GCK (N254H +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 1759577	NM_000162.5(GCK):c.756C>T (p.Cys252=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 2735006	NM_000162.5(GCK):c.753G>A (p.Met251Ile)	GCK (M250I +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic
Select item 3230477	NM_000162.5(GCK):c.750C>G (p.Arg250=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
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 804856	NM_000162.5(GCK):c.737G>C (p.Gly246Ala)	GCK (G247A +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1758315	NM_000162.5(GCK):c.731T>G (p.Val244Gly)	GCK (V244G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 1758309	NM_000162.5(GCK):c.731T>A (p.Val244Glu)	GCK (V244E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 451254	NM_000162.5(GCK):c.730G>A (p.Val244Met)	GCK (V244M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1756314	NM_000162.5(GCK):c.695C>A (p.Ala232Asp)	GCK (A233D +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GPathogenic
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 447413	NM_000162.5(GCK):c.682A>G (p.Thr228Ala)	GCK (T228A +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1198946	NM_000162.5(GCK):c.680G>A (p.Gly227Asp)	GCK (G226D +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 585924	NM_000162.5(GCK):c.680-2A>G	GCK	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1200795	NM_000162.5(GCK):c.679+1G>A	GCK	Single nucleotide variant (splice donor variant)	Monogenic diabetes +2 more	GPathogenic
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 546098	NM_000162.5(GCK):c.675C>G (p.Ile225Met)	GCK (I225M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435306	NM_000162.5(GCK):c.667G>A (p.Gly223Ser)	GCK (G223S +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +6 more	GPathogenic
Select item 36242	NM_000162.5(GCK):c.666C>T (p.Val222=)	GCK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 2 +7 more	GConflicting classifications of pathogenicity
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 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 500508	NM_000162.5(GCK):c.660C>T (p.Cys220=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 36240	NM_000162.5(GCK):c.659G>A (p.Cys220Tyr)	GCK (C220Y +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +2 more	GLikely pathogenic
Select item 1754233	NM_000162.5(GCK):c.656del (p.Gln219fs)	GCK (Q219fs +2 more)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 911631	NM_000162.5(GCK):c.649G>A (p.Asp217Asn)	GCK (D218N +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 453007	NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)	GCK (Y215* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 255401	NM_000162.5(GCK):c.645C>T (p.Tyr215=)	GCK	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 1752729	NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)	GCK	Microsatellite (inframe_insertion)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 36236	NM_000162.5(GCK):c.630G>T (p.Met210Ile)	GCK (M210I +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804851	NM_000162.5(GCK):c.626C>T (p.Thr209Met)	GCK (T208M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic/Likely risk allele
Select item 447411	NM_000162.5(GCK):c.623C>T (p.Ala208Val)	GCK (A208V +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36235	NM_000162.5(GCK):c.618G>A (p.Thr206=)	GCK	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus +6 more	GBenign/Likely benign
Select item 129145	NM_000162.5(GCK):c.616A>C (p.Thr206Pro)	GCK (T206P +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GPathogenic/Likely pathogenic
Select item 585923	NM_000162.5(GCK):c.608T>C (p.Val203Ala)	GCK (V203A +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 198050	NM_000162.5(GCK):c.601G>T (p.Ala201Ser)	GCK (A201S +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1678819	NM_000162.5(GCK):c.600G>A (p.Val200=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 447410	NM_000162.5(GCK):c.595G>A (p.Val199Met)	GCK (V199M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1749785	NM_000162.5(GCK):c.580-1G>C	GCK	Single nucleotide variant (splice acceptor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 1749655	NM_000162.5(GCK):c.579+1G>A	GCK	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young	GPathogenic
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 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 1749063	NM_000162.5(GCK):c.568A>T (p.Lys190Ter)	GCK (K190* +2 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
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 1748348	NM_000162.5(GCK):c.556C>A (p.Arg186=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 16133	NM_000162.5(GCK):c.556C>T (p.Arg186Ter)	GCK (R186* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 804848	NM_000162.5(GCK):c.554T>G (p.Leu185Arg)	GCK (L185R +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 129144	NM_000162.5(GCK):c.544G>A (p.Val182Met)	GCK (V182M +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic

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