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	NG_011731.2:g.4741A>C	HNF1A	Likely pathogenic	12	121416289	121416289	A	C	reviewed by expert panel	OMIM:142410.0007
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_000545.8(HNF1A):c.1A>T (p.Met1Leu)	HNF1A	Pathogenic	12	121416572	121416572	A	T	reviewed by expert panel	ClinGen:CA386951973
Deletion	NM_000545.8(HNF1A):c.4del (p.Val2fs)	HNF1A	Pathogenic	12	121416574	121416574	TG	T	reviewed by expert panel	ClinGen:CA658658175
single nucleotide variant	NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)	HNF1A	Pathogenic	12	121416590	121416590	C	T	reviewed by expert panel	-
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.142del (p.Glu48fs)	HNF1A	Pathogenic	12	121416709	121416709	AG	A	reviewed by expert panel	OMIM:142410.0012
Deletion	NM_000545.8(HNF1A):c.169del (p.Leu57fs)	HNF1A	Likely pathogenic	12	121416740	121416740	GC	G	reviewed by expert panel	ClinGen:CA214284
Duplication	NM_000545.8(HNF1A):c.313dup (p.Glu105fs)	HNF1A	Likely pathogenic	12	121416882	121416883	T	TG	reviewed by expert panel	ClinGen:CA214298
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