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.1378C>T (p.Gln460Ter)	HNF1A	Pathogenic	12	121435345	121435345	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA386970117
Deletion	NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)	HNF1A	Likely pathogenic	12	121438921	121438928	GAGCCACCT	G	criteria provided, single submitter	ClinGen:CA658797970
single nucleotide variant	NM_000545.8(HNF1A):c.1A>T (p.Met1Leu)	HNF1A	Pathogenic	12	121416572	121416572	A	T	reviewed by expert panel	ClinGen:CA386951973
single nucleotide variant	NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter)	HNF1A	Pathogenic	12	121435456	121435456	C	T	reviewed by expert panel	ClinGen:CA386970379
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
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.527-1G>A	HNF1A	Pathogenic	12	121431322	121431322	G	A	reviewed by expert panel	ClinGen:CA386963414
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.620G>A (p.Gly207Asp)	HNF1A	Pathogenic	12	121431416	121431416	G	A	reviewed by expert panel	ClinGen:CA386964424
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