家族性若年糖尿病 (MODY3)

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.365A>G (p.Tyr122Cys)	HNF1A	Likely pathogenic	12	121426674	121426674	A	G	reviewed by expert panel	ClinGen:CA124457,OMIM:142410.0004
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.714-1G>A	HNF1A	Likely pathogenic	12	121431966	121431966	G	A	criteria provided, single submitter	OMIM:142410.0018
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
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_000545.8(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
single nucleotide variant	NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)	HNF1A	Likely pathogenic	12	121432080	121432080	C	G	reviewed by expert panel	ClinGen:CA214333