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
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
Deletion	NM_000545.8(HNF1A):c.169del (p.Leu57fs)	HNF1A	Likely pathogenic	12	121416740	121416740	GC	G	reviewed by expert panel	ClinGen:CA214284
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
Duplication	NM_000545.8(HNF1A):c.313dup (p.Glu105fs)	HNF1A	Likely pathogenic	12	121416882	121416883	T	TG	reviewed by expert panel	ClinGen:CA214298
Deletion	NM_000545.8(HNF1A):c.518_526+37del	HNF1A	Likely pathogenic	12	121426823	121426868	AGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG	A	reviewed by expert panel	ClinGen:CA214310
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
single nucleotide variant	NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser)	HNF1A	Likely pathogenic	12	121431466	121431466	C	T	reviewed by expert panel	ClinGen:CA214317
single nucleotide variant	NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)	HNF1A	Likely pathogenic	12	121432043	121432043	G	T	reviewed by expert panel	ClinGen:CA214327
single nucleotide variant	NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)	HNF1A	Likely pathogenic	12	121432056	121432056	T	C	reviewed by expert panel	ClinGen:CA214330