"Gharavi Laboratory, Columbia University"[submitter] AND "HNF1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562372	NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)	HNF1A (Q7*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 562409	NM_000545.8(HNF1A):c.59G>T (p.Gly20Val)	HNF1A (G20V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 591691	NM_000545.8(HNF1A):c.242T>C (p.Phe81Ser)	HNF1A (F81S)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 562373	NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)	HNF1A (R131Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 562367	NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys)	HNF1A (R263C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic 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 562466	NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)	HNF1A (D526N)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance

ClinVar