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.434C>T (p.Ser145Phe)	HNF1A	Pathogenic	12	121426743	121426743	C	T	reviewed by expert panel	ClinGen:CA386959990
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
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
Deletion	NM_000545.8(HNF1A):c.4del (p.Val2fs)	HNF1A	Pathogenic	12	121416574	121416574	TG	T	reviewed by expert panel	ClinGen:CA658658175
Deletion	NM_000545.8(HNF1A):c.1359del (p.Ser454fs)	HNF1A	Likely pathogenic	12	121435326	121435326	GC	G	reviewed by expert panel	ClinGen:CA645372549
Deletion	NM_000545.8(HNF1A):c.1137del (p.Val380fs)	HNF1A	Pathogenic	12	121434373	121434373	CT	C	reviewed by expert panel	ClinGen:CA645372923
Deletion	NM_000545.8(HNF1A):c.864del (p.Pro291fs)	HNF1A	Likely pathogenic	12	121432115	121432115	CG	C	reviewed by expert panel	ClinGen:CA6831842
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
single nucleotide variant	NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)	HNF1A	Pathogenic	12	121426784	121426784	C	T	reviewed by expert panel	ClinGen:CA244529794
single nucleotide variant	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A	Pathogenic	12	121431481	121431481	C	T	reviewed by expert panel	ClinGen:CA6831796