C1838100[trait identifier] AND "Geisinger Clinic, Geisinger Health Sys - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16135	NM_000162.5(GCK):c.781G>A (p.Gly261Arg)	GCK (G261R +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 929078	NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)	HNF1A (E18*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1676688	NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu)	HNF1A (G65E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 972751	NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)	HNF1A (V115L)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1700671	NM_000545.8(HNF1A):c.347C>T (p.Ala116Val)	HNF1A (A116V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 14943	NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)	HNF1A (R131W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 429750	NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)	HNF1A (R159W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 372380	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	HNF1A (Q176*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 449035	NM_000545.8(HNF1A):c.527-1G>A	HNF1A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36824	NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	HNF1A (R200W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 129235	NM_000545.8(HNF1A):c.608G>A (p.Arg203His)	HNF1A (R203H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586794	NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	HNF1A (A209E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 420064	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A (R229*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 379904	NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	HNF1A (R229Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1327600	NM_000545.8(HNF1A):c.781G>A (p.Glu261Lys)	HNF1A (E261K)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 449403	NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	HNF1A (R271Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1328238	NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)	HNF1A (P289fs)	Insertion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1700664	NM_000545.8(HNF1A):c.1193A>C (p.Gln398Pro)	HNF1A (Q398P)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GLikely pathogenic
Select item 617650	NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	HNF1A (Q444fs)	Microsatellite (frameshift variant)	Maturity-onset diabetes of the young type 3 +2 more	GPathogenic/Likely risk allele
Select item 972766	NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter)	HNF1A (Q466*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic
Select item 1700665	NM_000545.8(HNF1A):c.1456del (p.Gln486fs)	HNF1A (Q486fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1700666	NM_000545.8(HNF1A):c.1469T>G (p.Met490Arg)	HNF1A (M490R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GLikely pathogenic
Select item 1700667	NM_000545.8(HNF1A):c.1487_1494del (p.Leu496fs)	HNF1A (L496fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic/Likely pathogenic
Select item 1700668	NM_000545.8(HNF1A):c.1623+1G>T	HNF1A	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1700670	NM_000545.8(HNF1A):c.1726C>T (p.Gln576Ter)	HNF1A (Q576* +1 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1315998	NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)	C12orf43, HNF1A (S594I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1700663	NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)	HNF4A (W324* +3 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic

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Items: 27