Table 3.

List of HNF1A (NM_000545.5) and HNF4A (NM_175914.4) variants identified.

Gene	Nucleotide	Protein	Pheno	dbSNP	Times seen	Interp.	LOVD	ClinVar	Ref
HNF1A	c.−160_−154dupTGGGGGT	p.?	MODY	–	2	PATH	Benign	–	[33]
	c.155_156delinsCT	p.G52A	MODY	–	1	LB	Benign	–	[61]
	c.160C>T	p.R54*	MODY	–	1	PATH	PATH	–	[62]
	c.472A>G	p.K158E	MODY	–	1	PATH	LP	–	[26]
	c.476G>A/c.1537A>T	p.R159Q/p.T513S	MODY	−/−	1/1	PATH/VUS	PATH/−	−/−	[63]/[64]
	c.511C>T	p.R171*	MODY	–	1	PATH	PATH	–	[63]
	c.599G>A	p.R200Q	n.p.	–	1	PATH	PATH	–	[65]
	c.768delC	p.N257Tfs*85	MODY	–	1	PATH	–	–	This report
	c.842T>C	p.L281P	n.p.	–	1	PATH	–	–	[64]
	c.872delC	p.P291Qfs*51	n.p.	–	2	PATH	VUS	–	[63]
	c.872dupC	p.G292Rfs*25	MODY	–	8	PATH	PATH	–	[66]
	c.1136C>A	p.P379H	MODY	rs371717826	1	PATH	–	–	[67]
	c.1137delT	p.V380Sfs*4	n.p.	–	1	PATH	–	–	[68]
	c.1405C>T	p.H469Y	MODY	rs201811844	1	LB	Benign	–	[69]
	c.1456C>T	p.Q486*	MODY	–	1	PATH	–	–	[70]
	c.1522G>A	p.E508K	MODY	–	1	VUS	VUS	–	[64]
	c.1541A>G	p.H514R	n.p.	rs202039659	1	VUS	Benign	–	[71]
HNF4A	c.146A>G	p.H49R	MODY	–	1	VUS	–	–	This report
	c.199C>T	p.R67W	MODY	–	1	PATH	PATH	–	[72]
	c.225–25T>A	p.?	“DM1”*	rs200071662	1	LB	–	–	[73]
	c.281_282delinsC	p.R94Tfs*10	MODY	rs193922471	2	PATH	–	LP	ClinVar only
	c.318_331del	p.V108Gfs*11	MODY	–	1	PATH	–	–	This report
	c.353G>A	p.R118Q	MODY	–	1	VUS	–	–	This report
	c.426+6G>A	p.?	“diabetes”*	rs182980547	1	VUS	Benign	VUS	ClinVar & LOVD
	c.869GNA	p.R290H	n.p.	–	1	PATH	PATH	–	[74]
	c.878_881dup	p.Q294Hfs*15	MODY	–	1	PATH	–	–	This report

Variants identified in HNF1A and HNF4A are shown, along with phenotype, dbSNP number, clinical interpretation, and presence in two databases (LOVD and ClinVar). “n.p.” indicates no phenotypic information provided. In two individuals (indicated by *) the clinical information provided was insufficient to determine the diagnosis, but the available clinical information is shown. All identified variants are in the heterozygous state, and in one individual compound heterozygosity was identified and is indicated.