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.827C>G (p.Ala276Gly)	HNF1A	Likely pathogenic	12	121432080	121432080	C	G	reviewed by expert panel	ClinGen:CA214333
single nucleotide variant	NM_000545.8(HNF1A):c.608G>A (p.Arg203His)	HNF1A	Pathogenic	12	121431404	121431404	G	A	reviewed by expert panel	ClinGen:CA153100
single nucleotide variant	NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)	HNF1A	Pathogenic	12	121432032	121432032	C	T	reviewed by expert panel	ClinGen:CA10588543
single nucleotide variant	NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)	HNF1A	Pathogenic	12	121432064	121432064	C	T	reviewed by expert panel	ClinGen:CA10588544
single nucleotide variant	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	HNF1A	Pathogenic	12	121426835	121426835	C	T	reviewed by expert panel	ClinGen:CA6831769
single nucleotide variant	NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)	HNF1A	Pathogenic	12	121426820	121426820	C	T	reviewed by expert panel	ClinGen:CA16606083
single nucleotide variant	NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	HNF1A	Pathogenic	12	121431482	121431482	G	A	reviewed by expert panel	ClinGen:CA16606085
single nucleotide variant	NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)	HNF1A	Pathogenic	12	121431395	121431395	G	A	reviewed by expert panel	ClinGen:CA16606474
single nucleotide variant	NM_000545.8(HNF1A):c.788G>A (p.Arg263His)	HNF1A	Pathogenic	12	121432041	121432041	G	A	reviewed by expert panel	ClinGen:CA16606475
single nucleotide variant	NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg)	HNF1A	Likely pathogenic	12	121431412	121431412	T	A	reviewed by expert panel	ClinGen:CA16609261