C1865290[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16143	NM_000162.5(GCK):c.1367C>T (p.Ala456Val)	GCK (A456V +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 429500	NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	GCK (R447Q +5 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +4 more	GPathogenic/Likely pathogenic
Select item 129147	NM_000162.5(GCK):c.1253+8C>T	GCK	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 435300	NM_000162.5(GCK):c.1165G>C (p.Val389Leu)	GCK (V389L +5 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to glucokinase deficiency	GPathogenic
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 211076	NM_000162.5(GCK):c.835G>C (p.Glu279Gln)	GCK (E279Q +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
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 211075	NM_000162.5(GCK):c.784G>A (p.Asp262Asn)	GCK (D262N +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance/Uncertain risk allele
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 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 435306	NM_000162.5(GCK):c.667G>A (p.Gly223Ser)	GCK (G223S +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +6 more	GPathogenic
Select item 255401	NM_000162.5(GCK):c.645C>T (p.Tyr215=)	GCK	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 36235	NM_000162.5(GCK):c.618G>A (p.Thr206=)	GCK	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to glucokinase deficiency +6 more	GBenign/Likely benign
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 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 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 447402	NM_000162.5(GCK):c.469G>A (p.Glu157Lys)	GCK (E157K +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 748518	NM_000162.5(GCK):c.363+9C>T	GCK	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36213	NM_000162.5(GCK):c.339C>T (p.Asp113=)	GCK	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to glucokinase deficiency +8 more	GBenign/Likely benign
Select item 211072	NM_000162.5(GCK):c.333C>T (p.Pro111=)	GCK	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Recessive +8 more	GBenign/Likely benign
Select item 36208	NM_000162.5(GCK):c.209-8G>A	GCK	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Recessive +5 more	GBenign/Likely benign
Select item 36206	NM_000162.5(GCK):c.208+11G>A	GCK	Single nucleotide variant (intron variant)	Hyperinsulinism due to glucokinase deficiency +6 more	GConflicting classifications of pathogenicity
Select item 36222	NM_000162.5(GCK):c.46-12C>T	GCK	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 389252	NM_000162.5(GCK):c.9C>T (p.Asp3=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GBenign/Likely benign
Select item 435292	NM_000162.5(GCK):c.-102G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 909652	NM_000162.5(GCK):c.-215A>G	GCK	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinism due to glucokinase deficiency +5 more	GBenign/Likely benign
Select item 435293	NM_000162.5(GCK):c.-452G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 435294	NM_000162.5(GCK):c.-453C>T	GCK	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 909717	NM_000162.5(GCK):c.-455A>G	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 2 +6 more	GConflicting classifications of pathogenicity

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Items: 30