家族性若年糖尿病 (MODY3)

最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.1378C>T (p.Gln460Ter)	HNF1A	Pathogenic	12	121435345	121435345	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA386970117
single nucleotide variant	NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys)	HNF1A	Pathogenic	12	121432040	121432040	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)	HNF1A	Pathogenic	12	121416590	121416590	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)	HNF1A	Pathogenic	12	121426701	121426701	G	A	reviewed by expert panel	-
Deletion	NM_000545.8(HNF1A):c.864_897del (p.Pro290fs)	HNF1A	Pathogenic/Likely pathogenic	12	121432116	121432149	GGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)	HNF1A	Pathogenic	12	121426679	121426679	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)	HNF1A	Pathogenic	12	121426785	121426785	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	HNF1A	Likely pathogenic	12	121431422	121431422	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.956-1G>A	HNF1A	Pathogenic	12	121434064	121434064	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter)	HNF1A	Pathogenic	12	121435450	121435450	C	T	criteria provided, multiple submitters, no conflicts	-