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.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.685C>T (p.Arg229Ter)	HNF1A	Pathogenic	12	121431481	121431481	C	T	reviewed by expert panel	ClinGen:CA6831796
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.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.599G>A (p.Arg200Gln)	HNF1A	Pathogenic	12	121431395	121431395	G	A	reviewed by expert panel	ClinGen:CA16606474
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.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.526C>T (p.Gln176Ter)	HNF1A	Pathogenic	12	121426835	121426835	C	T	reviewed by expert panel	ClinGen:CA6831769
single nucleotide variant	NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)	HNF1A	Pathogenic	12	121432064	121432064	C	T	reviewed by expert panel	ClinGen:CA10588544
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