"MGZ Medical Genetics Center"[submitter] AND "GCK"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1709898	NM_000162.5(GCK):c.866A>G (p.Tyr289Cys)	GCK (Y288C +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 2 +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 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 1074406	NM_000162.5(GCK):c.359dup (p.Met121fs)	GCK (M120fs +2 more)	Duplication (frameshift variant)	Permanent neonatal diabetes mellitus 1 +1 more	GPathogenic/Likely pathogenic
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