"Baylor Genetics"[submitter] AND "HNF1A"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033090	NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg)	HNF1A (G20R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 998283	NM_000545.8(HNF1A):c.775G>A (p.Val259Ile)	HNF1A (V259I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 998284	NM_000545.8(HNF1A):c.824A>C (p.Glu275Ala)	HNF1A (E275A)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20	GUncertain significance
Select item 36832	NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)	HNF1A (A276G)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 835515	NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)	HNF1A (P291Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 1327091	NM_000545.8(HNF1A):c.1030G>A (p.Val344Met)	HNF1A (V344M)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +1 more	GUncertain significance
Select item 972818	NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	HNF1A (P379T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 805627	NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)	HNF1A (P379fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 3 +2 more	GPathogenic/Likely pathogenic
Select item 979117	NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)	HNF1A (T425M)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance/Uncertain risk allele
Select item 3237529	NM_000545.8(HNF1A):c.1324C>T (p.Gln442Ter)	HNF1A (Q442*)	Single nucleotide variant (nonsense +1 more)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 997653	NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr)	HNF1A (M493T)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +2 more	GUncertain significance/Uncertain risk allele
Select item 2676035	NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)	HNF1A (T473A +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1	GUncertain significance
Select item 36806	NM_000545.8(HNF1A):c.1624-15G>A	HNF1A (A544T)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 3 +3 more	GConflicting classifications of pathogenicity