"Revvity Omics, Revvity"[submitter] AND "GCK"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2432082	NM_000162.5(GCK):c.1213A>G (p.Thr405Ala)	GCK (T25A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1935354	NM_000162.5(GCK):c.852C>G (p.Pro284=)	GCK	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 447420	NM_000162.5(GCK):c.802G>A (p.Glu268Lys)	GCK (E268K +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 447397	NM_000162.5(GCK):c.370G>C (p.Asp124His)	GCK (D124H +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1322992	NM_000162.5(GCK):c.18del (p.Arg7fs)	GCK (R7fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2440443	NM_000162.5(GCK):c.12_13del (p.Asp4fs)	GCK (D4fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2432083	NM_000162.3(GCK):c.-1460G>A	GCK	Single nucleotide variant	not provided	GUncertain significance