家族性若年糖尿病 (MODY3)

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)	HNF1A	Pathogenic	12	121426820	121426820	C	T	reviewed by expert panel	ClinGen:CA16606083
single nucleotide variant	NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter)	HNF1A	Pathogenic	12	121426803	121426803	G	A	reviewed by expert panel	ClinGen:CA386960529
single nucleotide variant	NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)	HNF1A	Pathogenic	12	121426785	121426785	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)	HNF1A	Pathogenic	12	121426784	121426784	C	T	reviewed by expert panel	ClinGen:CA244529794
single nucleotide variant	NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe)	HNF1A	Pathogenic	12	121426743	121426743	C	T	reviewed by expert panel	ClinGen:CA386959990
single nucleotide variant	NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)	HNF1A	Pathogenic	12	121426701	121426701	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu)	HNF1A	Likely pathogenic	12	121426701	121426701	G	T	reviewed by expert panel	ClinGen:CA386959454
single nucleotide variant	NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)	HNF1A	Pathogenic	12	121426700	121426700	C	T	reviewed by expert panel	ClinGen:CA124478,OMIM:142410.0016
single nucleotide variant	NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)	HNF1A	Pathogenic	12	121426679	121426679	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)	HNF1A	Likely pathogenic	12	121426674	121426674	A	G	reviewed by expert panel	ClinGen:CA124457,OMIM:142410.0004