C0342276[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292831	NM_170707.4(LMNA):c.-88G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +12 more	GBenign/Likely benign
Select item 360282	NM_000162.5(GCK):c.*847G>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +4 more	GBenign/Likely benign
Select item 360283	NM_000162.5(GCK):c.*844A>C	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360284	NM_000162.5(GCK):c.*797C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +5 more	GBenign
Select item 360285	NM_000162.5(GCK):c.*764C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360287	NM_000162.5(GCK):c.*735C>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360288	NM_000162.5(GCK):c.*723A>G	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360289	NM_000162.5(GCK):c.*721C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360290	NM_000162.5(GCK):c.*678G>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 360291	NM_000162.5(GCK):c.*548G>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360292	NM_000162.5(GCK):c.*510C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360293	NM_000162.5(GCK):c.*477C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +5 more	GBenign
Select item 360294	NM_000162.5(GCK):c.*356G>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360296	NM_000162.5(GCK):c.*297T>G	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 2 +4 more	GBenign/Likely benign
Select item 360297	NM_000162.5(GCK):c.*270C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 360298	NM_000162.5(GCK):c.*92C>A	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Transient Neonatal Diabetes, Recessive +5 more	GBenign/Likely benign
Select item 255399	NM_000162.5(GCK):c.*11C>T	GCK	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperinsulinism due to glucokinase deficiency +5 more	GConflicting classifications of pathogenicity
Select item 36202	NM_000162.5(GCK):c.1386G>T (p.Met462Ile)	GCK (M462I +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 36201	NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)	GCK (K136fs +4 more)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 435297	NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)	GCK	Microsatellite (inframe_insertion)	Hyperinsulinism due to glucokinase deficiency +1 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 804843	NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)	GCK	Deletion (inframe_deletion)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 804844	NM_000162.5(GCK):c.1360del (p.Ala454fs)	GCK (A117fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36190	NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)	GCK	Indel (inframe_indel)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36197	NM_000162.5(GCK):c.1332del (p.Ser445fs)	GCK (S108fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 585915	NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)	GCK (E443* +5 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 515200	NM_000162.5(GCK):c.1317C>T (p.Ile439=)	GCK	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 916047	NM_000162.5(GCK):c.1254-20_1312del	GCK	Deletion (splice acceptor variant)	Maturity onset diabetes mellitus in young	GUncertain significance
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 997872	NM_000162.5(GCK):c.1309A>C (p.Thr437Pro)	GCK (T100P +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance/Uncertain risk allele
Select item 36194	NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)	GCK (L430P +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36192	NM_000162.5(GCK):c.1285A>C (p.Arg429=)	GCK	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign 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 36191	NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)	GCK (R427fs +5 more)	Microsatellite (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 585912	NM_000162.5(GCK):c.1280T>G (p.Val427Gly)	GCK (V427G +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 817706	NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC	GCK	Deletion	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 447388	NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)	GCK (F419L +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 911565	NM_000162.5(GCK):c.1253+12C>T	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 129147	NM_000162.5(GCK):c.1253+8C>T	GCK	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 804840	NM_000162.5(GCK):c.1253+3G>T	GCK	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 1801512	NM_000162.5(GCK):c.1253+2T>G	GCK	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 872750	NM_000162.5(GCK):c.1248C>T (p.His416=)	GCK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 804839	NM_000162.5(GCK):c.1247A>C (p.His416Pro)	GCK (H36P +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447387	NM_000162.5(GCK):c.1235T>G (p.Val412Gly)	GCK (V412G +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 736532	NM_000162.5(GCK):c.1233C>G (p.Ser411=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 1801514	NM_000162.5(GCK):c.1229G>T (p.Gly410Val)	GCK (G30V +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
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 981653	NM_000162.5(GCK):c.1178T>C (p.Met393Thr)	GCK (M13T +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GLikely pathogenic/Likely risk allele
Select item 36185	NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)	GCK (R392L +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 435299	NM_000162.5(GCK):c.1173C>A (p.Asn391Lys)	GCK (N391K +5 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic/Likely risk allele
Select item 280892	NM_000162.5(GCK):c.1163dup (p.Val389fs)	GCK (V52fs +5 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
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 36180	NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)	GCK (L386P +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804837	NM_000162.5(GCK):c.1156C>G (p.Leu386Val)	GCK (L385V +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 503699	NM_000162.5(GCK):c.1155del (p.Leu386fs)	GCK (L385fs +5 more)	Deletion (frameshift variant)	Type 2 diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 982610	NM_000162.5(GCK):c.1154G>A (p.Gly385Glu)	GCK (G384E +5 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GLikely pathogenic/Likely risk allele
Select item 36179	NM_000162.5(GCK):c.1153G>A (p.Gly385Arg)	GCK (G385R +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GLikely pathogenic/Likely risk allele
Select item 804836	NM_000162.5(GCK):c.1151C>T (p.Ala384Val)	GCK (A385V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 447381	NM_000162.5(GCK):c.1133_1149del (p.Ala378fs)	GCK (A377fs +5 more)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
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 804835	NM_000162.5(GCK):c.1146C>A (p.Cys382Ter)	GCK (C381* +5 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447384	NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)	GCK (C382R +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 429640	NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)	GCK	Deletion (inframe_deletion +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36175	NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)	GCK (S375F +4 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic
Select item 1801683	NM_000162.5(GCK):c.1123T>A (p.Ser375Thr)	GCK (S374T +4 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GLikely risk allele
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 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 747852	NM_000162.5(GCK):c.1068G>T (p.Gly356=)	GCK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 804832	NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)	GCK (L356P +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 585907	NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)	GCK	Deletion (nonsense +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 802307	NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs)	GCK (K347fs +4 more)	Duplication (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 987827	NM_000162.5(GCK):c.1033C>G (p.Arg345Gly)	GCK (R23G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance/Uncertain risk allele
Select item 219179	NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)	GCK (D344Y +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 447378	NM_000162.5(GCK):c.1020-1G>A	GCK	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1801686	NM_000162.5(GCK):c.1020-10C>T	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 669783	NM_000162.5(GCK):c.1019+275del	GCK	Deletion (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 1801685	NM_000162.5(GCK):c.1019+16G>T	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 36167	NM_000162.5(GCK):c.1018A>G (p.Ser340Gly)	GCK (S340G +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 36165	NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs)	GCK (V334fs +2 more)	Insertion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 36164	NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet)	GCK	Indel (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1801684	NM_000162.5(GCK):c.995C>T (p.Thr332Met)	GCK (T331M +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 522430	NM_000162.5(GCK):c.989T>C (p.Phe330Ser)	GCK (F330S +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 36269	NM_000162.5(GCK):c.954G>C (p.Gly318=)	GCK	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 36267	NM_000162.5(GCK):c.947T>A (p.Phe316Tyr)	GCK (F316Y +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic/Likely risk allele
Select item 804863	NM_000162.5(GCK):c.943C>T (p.Leu315Phe)	GCK (L314F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 994614	NM_000162.5(GCK):c.914T>G (p.Val305Gly)	GCK (V304G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447425	NM_000162.5(GCK):c.911T>C (p.Leu304Pro)	GCK (L304P +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 741560	NM_000162.5(GCK):c.909G>T (p.Arg303=)	GCK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1801714	NM_000162.5(GCK):c.904G>T (p.Val302Leu)	GCK (V301L +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain risk allele
Select item 994613	NM_000162.5(GCK):c.884G>A (p.Gly295Asp)	GCK (G294D +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 447423	NM_000162.5(GCK):c.883G>A (p.Gly295Ser)	GCK (G295S +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 994612	NM_000162.5(GCK):c.868G>A (p.Glu290Lys)	GCK (E289K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 677815	NM_000162.5(GCK):c.864-105G>A	GCK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 36262	GCK:c.864-159_864-149del	GCK	Deletion (intron variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 36261	NM_000162.5(GCK):c.863+3A>G	GCK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 804860	NM_000162.5(GCK):c.854del (p.Gly285fs)	GCK (G286fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 721536	NM_000162.5(GCK):c.849C>T (p.Asn283=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign

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