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.956-1G>A	HNF1A	Pathogenic	12	121434064	121434064	G	A	reviewed by expert panel	-
Deletion	NM_000545.8(HNF1A):c.864_897del (p.Pro290fs)	HNF1A	Pathogenic/Likely pathogenic	12	121432116	121432149	GGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A	Pathogenic	12	121432117	121432118	G	GC	reviewed by expert panel	ClinGen:CA124453,OMIM:142410.0001
Deletion	NM_000545.8(HNF1A):c.864del (p.Pro291fs)	HNF1A	Likely pathogenic	12	121432115	121432115	CG	C	reviewed by expert panel	ClinGen:CA6831842
single nucleotide variant	NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)	HNF1A	Likely pathogenic	12	121432080	121432080	C	G	reviewed by expert panel	ClinGen:CA214333
single nucleotide variant	NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)	HNF1A	Pathogenic	12	121432080	121432080	C	A	reviewed by expert panel	ClinGen:CA124481,OMIM:142410.0019
single nucleotide variant	NM_000545.8(HNF1A):c.815G>A (p.Arg272His)	HNF1A	Pathogenic	12	121432068	121432068	G	A	reviewed by expert panel	ClinGen:CA124460,OMIM:142410.0005
single nucleotide variant	NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)	HNF1A	Pathogenic	12	121432067	121432067	C	T	reviewed by expert panel	ClinGen:CA386966363
single nucleotide variant	NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	HNF1A	Pathogenic	12	121432065	121432065	G	A	reviewed by expert panel	ClinGen:CA6831835
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