"Molecular Genetics, Madras Diabetes Research Foundation"[submitter] A - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526021	NM_000545.8(HNF1A):c.338G>A (p.Trp113Ter)	HNF1A (W113*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 972770	NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)	HNF1A (R114C)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1384058	NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly)	HNF1A (R171G)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 972755	NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)	HNF1A (E235Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1526008	NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg)	HNF1A (G245R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 379138	NM_000545.8(HNF1A):c.788G>A (p.Arg263His)	HNF1A (R263H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic 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 14931	NM_000545.8(HNF1A):c.815G>A (p.Arg272His)	HNF1A (R272H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586796	NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)	HNF1A (A301T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 972811	NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)	HNF1A (T354M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity