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.803T>C (p.Phe268Ser)	HNF1A	Likely pathogenic	12	121432056	121432056	T	C	reviewed by expert panel	ClinGen:CA214330
single nucleotide variant	NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)	HNF1A	Likely pathogenic	12	121432043	121432043	G	T	reviewed by expert panel	ClinGen:CA214327
single nucleotide variant	NM_000545.8(HNF1A):c.788G>A (p.Arg263His)	HNF1A	Pathogenic	12	121432041	121432041	G	A	reviewed by expert panel	ClinGen:CA16606475
single nucleotide variant	NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys)	HNF1A	Pathogenic	12	121432040	121432040	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)	HNF1A	Pathogenic	12	121432032	121432032	C	T	reviewed by expert panel	ClinGen:CA10588543
Duplication	NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)	HNF1A	Likely pathogenic	12	121431972	121431973	A	AATGC	reviewed by expert panel	ClinGen:CA658658177
single nucleotide variant	NM_000545.8(HNF1A):c.714-1G>A	HNF1A	Likely pathogenic	12	121431966	121431966	G	A	criteria provided, single submitter	OMIM:142410.0018
Duplication	NM_000545.8(HNF1A):c.694dup (p.Leu232fs)	HNF1A	Pathogenic	12	121431489	121431490	G	GC	reviewed by expert panel	ClinGen:CA16609272
single nucleotide variant	NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	HNF1A	Pathogenic	12	121431482	121431482	G	A	reviewed by expert panel	ClinGen:CA16606085
single nucleotide variant	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A	Pathogenic	12	121431481	121431481	C	T	reviewed by expert panel	ClinGen:CA6831796