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.1340C>T (p.Pro447Leu)	HNF1A	Pathogenic	12	121435307	121435307	C	T	reviewed by expert panel	ClinGen:CA124454,OMIM:142410.0002
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
Deletion	NM_000545.8(HNF1A):c.142del (p.Glu48fs)	HNF1A	Pathogenic	12	121416709	121416709	AG	A	reviewed by expert panel	OMIM:142410.0012
single nucleotide variant	NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)	HNF1A	Pathogenic	12	121426644	121426644	C	T	reviewed by expert panel	ClinGen:CA124475,OMIM:142410.0015
single nucleotide variant	NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)	HNF1A	Pathogenic	12	121426700	121426700	C	T	reviewed by expert panel	ClinGen:CA124478,OMIM:142410.0016
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
Deletion	NM_000545.8(HNF1A):c.1129del (p.Leu377fs)	HNF1A	Pathogenic	12	121434361	121434361	GC	G	reviewed by expert panel	ClinGen:CA214257
Deletion	NM_000545.8(HNF1A):c.130del (p.Leu44fs)	HNF1A	Pathogenic	12	121416697	121416697	GC	G	reviewed by expert panel	ClinGen:CA214261
single nucleotide variant	NM_000545.8(HNF1A):c.1A>G (p.Met1Val)	HNF1A	Pathogenic	12	121416572	121416572	A	G	reviewed by expert panel	ClinGen:CA214292
single nucleotide variant	NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	HNF1A	Pathogenic	12	121431394	121431394	C	T	reviewed by expert panel	ClinGen:CA214311