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.616T>A (p.Trp206Arg)	HNF1A	Likely pathogenic	12	121431412	121431412	T	A	reviewed by expert panel	ClinGen:CA16609261
single nucleotide variant	NM_000545.8(HNF1A):c.1501+1G>A	HNF1A	Likely pathogenic	12	121435469	121435469	G	A	reviewed by expert panel	ClinGen:CA386970409
Deletion	NM_000545.8(HNF1A):c.864del (p.Pro291fs)	HNF1A	Likely pathogenic	12	121432115	121432115	CG	C	reviewed by expert panel	ClinGen:CA6831842
Deletion	NM_000545.8(HNF1A):c.1359del (p.Ser454fs)	HNF1A	Likely pathogenic	12	121435326	121435326	GC	G	reviewed by expert panel	ClinGen:CA645372549
single nucleotide variant	NM_000545.8(HNF1A):c.326+2T>G	HNF1A	Likely pathogenic	12	121416899	121416899	T	G	reviewed by expert panel	ClinGen:CA386955008
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
Duplication	NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)	HNF1A	Likely pathogenic	12	121431972	121431973	A	AATGC	reviewed by expert panel	ClinGen:CA658658177
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.626C>A (p.Ala209Glu)	HNF1A	Likely pathogenic	12	121431422	121431422	C	A	reviewed by expert panel	-
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