"GeneDx"[submitter] AND "GCK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
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 360286	NM_000162.5(GCK):c.*759del	GCK	Deletion (3 prime UTR variant +1 more)	Hyperinsulinism, Dominant +4 more	GBenign
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 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 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 585916	NM_000162.5(GCK):c.1364T>A (p.Val455Glu)	GCK (V455E +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity
Select item 393447	NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)	GCK (A454E +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1708917	NM_000162.5(GCK):c.1351del (p.Leu451fs)	GCK (L114fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 804842	NM_000162.5(GCK):c.1340G>C (p.Arg447Pro)	GCK (R110P +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GConflicting classifications of pathogenicity
Select item 429500	NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	GCK (R447Q +5 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GPathogenic/Likely pathogenic
Select item 421604	NM_000162.5(GCK):c.1339del (p.Arg447fs)	GCK (R67fs +5 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 1320655	NM_000162.5(GCK):c.1322C>G (p.Ser441Trp)	GCK (S104W +5 more)	Single nucleotide variant (missense variant)	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 1800884	NM_000162.5(GCK):c.1265G>T (p.Arg422Leu)	GCK (R100L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 817706	NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC	GCK	Deletion	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 674359	NM_000162.5(GCK):c.1253+49G>A	GCK	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 +1 more	GLikely pathogenic/Likely risk allele
Select item 447386	NM_000162.5(GCK):c.1229G>A (p.Gly410Asp)	GCK (G410D +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1300949	NM_000162.5(GCK):c.1222G>A (p.Val408Met)	GCK (V28M +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1303093	NM_000162.5(GCK):c.1216G>A (p.Val406Met)	GCK (V26M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372588	NM_000162.5(GCK):c.1181G>A (p.Arg394His)	GCK (R14H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301416	NM_000162.5(GCK):c.1174C>G (p.Arg392Gly)	GCK (R12G +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance 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 1303094	NM_000162.5(GCK):c.1166TCA[1] (p.Ile390del)	GCK (I10del +5 more)	Microsatellite (inframe_deletion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
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 36182	NM_000162.5(GCK):c.1160C>T (p.Ala387Val)	GCK (A387V +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)	Permanent neonatal diabetes mellitus 1 +4 more	GPathogenic/Likely pathogenic
Select item 236014	NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)	GCK (S383L +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1256306	NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)	GCK (S382P +5 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic 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 804834	NM_000162.5(GCK):c.1136C>T (p.Ala379Val)	GCK (A378V +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 2767216	NM_000162.5(GCK):c.1124C>A (p.Ser375Tyr)	GCK (S38Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 381598	NM_000162.5(GCK):c.1099G>A (p.Val367Met)	GCK (V367M +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3338868	NM_000162.5(GCK):c.1092C>A (p.Cys364Ter)	GCK (C27* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 1803547	NM_000162.5(GCK):c.1072C>T (p.Arg358Ter)	GCK (R21* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2443578	NM_000162.5(GCK):c.1020-33_1025del	GCK	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1190030	NM_000162.5(GCK):c.1020-54G>A	GCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203137	NM_000162.5(GCK):c.1020-95G>A	GCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669786	NM_000162.5(GCK):c.1020-327C>A	GCK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1264257	NM_000162.5(GCK):c.1019+304G>C	GCK	Single nucleotide variant (intron variant)	not provided	GBenign
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 669776	NM_000162.5(GCK):c.1019+257G>C	GCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293412	NM_000162.5(GCK):c.1019+174G>T	GCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222687	NM_000162.5(GCK):c.1019+107T>C	GCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377918	NM_000162.5(GCK):c.1019+18G>A	GCK	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 2664362	NM_000162.5(GCK):c.1019+5G>A	GCK	Single nucleotide variant (intron variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 21075	NM_000162.5(GCK):c.1019+2T>G	GCK	Single nucleotide variant (splice donor variant +1 more)	Monogenic diabetes	GPathogenic 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 393450	NM_000162.5(GCK):c.1016A>G (p.Glu339Gly)	GCK (E339G +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
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 450453	NM_000162.5(GCK):c.995C>G (p.Thr332Arg)	GCK (T332R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 36270	NM_000162.5(GCK):c.971T>C (p.Leu324Pro)	GCK (L324P +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2 +1 more	GPathogenic/Likely pathogenic
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 585929	NM_000162.5(GCK):c.952G>A (p.Gly318Arg)	GCK (G318R +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +1 more	GPathogenic/Likely pathogenic
Select item 447426	NM_000162.5(GCK):c.951C>G (p.His317Gln)	GCK (H317Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3338869	NM_000162.5(GCK):c.892A>G (p.Met298Val)	GCK (M297V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338870	NM_000162.5(GCK):c.881G>A (p.Gly294Asp)	GCK (G293D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 418227	NM_000162.5(GCK):c.871A>G (p.Lys291Glu)	GCK (K291E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 36263	NM_000162.5(GCK):c.871A>T (p.Lys291Ter)	GCK (K291* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
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 1344976	NM_000162.5(GCK):c.863+32C>A	GCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432386	NM_000162.5(GCK):c.824G>A (p.Arg275His)	GCK (R275H +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 804858	NM_000162.5(GCK):c.809T>C (p.Leu270Pro)	GCK (L270P +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance/Uncertain risk allele
Select item 3371965	NM_000162.5(GCK):c.806T>C (p.Phe269Ser)	GCK (F268S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +5 more	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 435302	NM_000162.5(GCK):c.775G>A (p.Ala259Thr)	GCK (A259T +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1702665	NM_000162.5(GCK):c.774C>T (p.Gly258=)	GCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 918070	NM_000162.5(GCK):c.772G>A (p.Gly258Ser)	GCK (G257S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 421063	NM_000162.5(GCK):c.766G>C (p.Glu256Gln)	GCK (E256Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 450262	NM_000162.5(GCK):c.762T>A (p.Asn254Lys)	GCK (N254K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 449696	NM_000162.5(GCK):c.757G>T (p.Val253Phe)	GCK (V253F +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 418226	NM_000162.5(GCK):c.757G>A (p.Val253Ile)	GCK (V253I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 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 381599	NM_000162.5(GCK):c.703A>G (p.Met235Val)	GCK (M235V +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 198397	NM_000162.5(GCK):c.688T>C (p.Cys230Arg)	GCK (C230R +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 3340323	NM_000162.5(GCK):c.685G>C (p.Gly229Arg)	GCK (G228R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 1203238	NM_000162.5(GCK):c.679+169C>T	GCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248825	NM_000162.5(GCK):c.679+85A>G	GCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673534	NM_000162.5(GCK):c.679+38T>C	GCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580860	NM_000162.5(GCK):c.679+5G>A	GCK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
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

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