Table 4. Genetic identification of the cases with variants of uncertain significance detected according to According to the American College of Medical Genetics and Genomics.

Gene/OMIM ID/MODY type	Variants/types of mutation	dsSNP	Zygosity	In silico prediction	Reference
HNF1A 600496 MODY3	c.481G>A p.(Ala161Thr) missense	rs201095611	Heterozygous	pBD/Del/DC	(9,10)
HNF1A	c.517G>A p.(Val173Met) missense	NA	Heterozygous	PD/Del/DC	(11,12)
HNF1B 189907 MODY5	c.1006C>G p.(His336Asp) missense	rs138986885	Heterozygous	B/Tol/DC	(10)
HNF1B	c.1339+5G>A p.? splice site (novel)	NA	Heterozygous	NA/NA/DC	NA
HNF4A 125850 MODY1	c.473C>T p.(Ala158Val) missense	rs754143633	Heterozygous	PbD/Tol/DC	NA
BLK 613375 MODY11	c.497delA p.(Asp166ValfsTer8) deletion (novel)	NA	Heterozygous	NA/NA/DC	NA
BLK	c.569C>G p.(Ser190Cys) missense	rs200875749	Heterozygous	B/Del/DC	NA
PAX4 612225 MODY9	c.521G>T p.(Arg174Leu) missense	rs776151854	Heterozygous	PbD/Del/DC	(13)
INS 613370 MODY10	c.2455C>G p.(Arg819Gly) missense	rs1555738952	Heterozygous	B/Del/DC	NA
KLF11 610508 MODY7	c.673A>C p.(Ser225Arg) missense	rs200061013	Heterozygous	B/Tol/Poly	NA
ABCC8 600509 MODY12	c.2395A>G p.(Lys799Glu) missense	rs1336775990	Heterozygous	B/Del/DC	NA
RFX6 NA MODY?	c.1782C>G p.(His594Gln) missense	rs4946206	Heterozygous	B/Tol/Poly	NA

dsSNP: the Single Nucleotide Polymorphism Database, In silico prediction: PolyPhen-2, SIFT: mutation tester, respectively, Polyphen predictions: B: bening, PD: possibly damaging, PbD: probably damaging, SIFT predictions: Del: deleterious, Tol: tolerated, mutation tester predictions: DC: disease-causing, Poly: polymorphism ?= unknown effect; NA: not available.

Transcripts: HNF1A(NM_000545.8), HNF4A(NM_000457.5), HNF1B(NM_000458.4), BLK(NM_001715.3), PAX4(NM_001366110.1), INS(NM_000208.4), KLF11(NM_003597.5), ABCC8(NM_000352.6), RFX6(NM_173560.4)