C5393570[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 908615	NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)	GCK (T341P +4 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GBenign FDA Recognized database
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 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 447426	NM_000162.5(GCK):c.951C>G (p.His317Gln)	GCK (H317Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinism due to glucokinase deficiency +5 more	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)	Diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 802308	NM_000162.5(GCK):c.836A>G (p.Glu279Gly)	GCK (E278G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 769711	NM_000162.5(GCK):c.834C>T (p.Asp278=)	GCK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 2 +6 more	GBenign/Likely benign
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 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 1172896	NM_000162.5(GCK):c.660C>A (p.Cys220Ter)	GCK (C219* +2 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447412	NM_000162.5(GCK):c.646G>A (p.Glu216Lys)	GCK (E216K +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
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 1636430	NM_000162.5(GCK):c.579+12C>G	GCK	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
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 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 1028584	NM_000162.5(GCK):c.415A>T (p.Met139Leu)	GCK (M139L +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 972807	NM_000162.5(GCK):c.394G>A (p.Asp132Asn)	GCK (D133N +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +4 more	GUncertain significance
Select item 514377	NM_000162.5(GCK):c.364-18A>G	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +6 more	GBenign/Likely benign
Select item 36213	NM_000162.5(GCK):c.339C>T (p.Asp113=)	GCK	Single nucleotide variant (synonymous variant)	not specified +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 804845	NM_000162.5(GCK):c.301G>A (p.Val101Met)	GCK (V102M +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +4 more	GUncertain significance
Select item 1592426	NM_000162.5(GCK):c.270G>A (p.Lys90=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +5 more	GLikely benign
Select item 669148	NM_000162.5(GCK):c.208+17G>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +5 more	GBenign/Likely benign
Select item 972809	NM_000162.5(GCK):c.107G>A (p.Arg36Gln)	GCK (R35Q +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +5 more	GUncertain significance/Uncertain risk allele
Select item 1678750	NM_000162.5(GCK):c.46-5598A>T	GCK	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus 1 +4 more	GBenign/Likely benign
Select item 911766	NM_000162.5(GCK):c.10G>A (p.Asp4Asn)	GCK (D4N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
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 1034248	NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)	KCNJ11 (R227H +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +6 more	GUncertain significance

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Items: 31