ClinVar (all) for Orgtrack (Select 509128) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580880	NM_000162.5(GCK):c.484G>A (p.Gly162Ser)	GCK (G161S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580879	NM_000162.5(GCK):c.484-11_484-6del	GCK	Deletion (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580878	NM_000162.5(GCK):c.482A>G (p.Lys161Arg)	GCK (K160R +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580877	NM_000162.5(GCK):c.356C>G (p.Ala119Gly)	GCK (A118G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2580876	NM_000162.5(GCK):c.208+15C>G	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580875	NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)	HNF4A (G352R +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580874	NM_175914.5(HNF4A):c.426G>A (p.Gln142=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2580873	NM_175914.5(HNF4A):c.225-3C>A	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580872	NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG	HNF1A	Indel (splice donor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580871	NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580870	NM_000545.8(HNF1A):c.1501+4A>G	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580869	NM_000162.5(GCK):c.208G>C (p.Glu70Gln)	GCK (E69Q +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580868	NM_000545.8(HNF1A):c.955+5G>C	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580867	NM_000545.8(HNF1A):c.713+10C>T	HNF1A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580866	NM_000545.8(HNF1A):c.526+5G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580865	NM_000162.5(GCK):c.1190_1253+11dup	GCK	Duplication (splice donor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580864	NM_000162.5(GCK):c.1019+20G>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580863	NM_000162.5(GCK):c.1019G>C (p.Ser340Thr)	GCK (S339T +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580862	NM_000162.5(GCK):c.863+5G>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580861	NM_000162.5(GCK):c.680-6C>G	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GPathogenic
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 2580859	NM_000162.5(GCK):c.679G>C (p.Gly227Arg)	GCK (G226R +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GLikely pathogenic
Select item 2580858	NM_000162.5(GCK):c.677T>G (p.Val226Gly)	GCK (V225G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580857	NM_000162.5(GCK):c.580-3del	GCK	Deletion (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2580856	NM_000162.5(GCK):c.580-3C>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 2580855	NM_000162.5(GCK):c.580-9T>G	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2431839	NM_000162.5(GCK):c.579+4del	GCK	Deletion (intron variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2136518	NM_000162.5(GCK):c.679G>A (p.Gly227Ser)	GCK (G227S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1687076	NM_000545.8(HNF1A):c.1501+5G>C	HNF1A	Single nucleotide variant (intron variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1683779	NM_000162.5(GCK):c.579G>T (p.Gly193=)	GCK	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1679552	NM_000162.5(GCK):c.208G>A (p.Glu70Lys)	GCK (E69K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1405403	NM_000162.5(GCK):c.1019G>A (p.Ser340Asn)	GCK (S341N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 987828	NM_000162.5(GCK):c.680-15C>A	GCK	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 972808	NM_000162.5(GCK):c.207A>G (p.Ser69=)	GCK	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 972780	NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)	HNF1A (A501T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36261	NM_000162.5(GCK):c.863+3A>G	GCK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 36