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
Duplication	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A	Pathogenic	12	121432117	121432118	G	GC	reviewed by expert panel	ClinGen:CA124453,OMIM:142410.0001
single nucleotide variant	NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	HNF1A	Pathogenic	12	121435307	121435307	C	T	reviewed by expert panel	ClinGen:CA124454,OMIM:142410.0002
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	NM_000545.8(HNF1A):c.815G>A (p.Arg272His)	HNF1A	Pathogenic	12	121432068	121432068	G	A	reviewed by expert panel	ClinGen:CA124460,OMIM:142410.0005
single nucleotide variant	NG_011731.2:g.4741A>C	HNF1A	Likely pathogenic	12	121416289	121416289	A	C	reviewed by expert panel	OMIM:142410.0007
Deletion	NM_000545.8(HNF1A):c.142del (p.Glu48fs)	HNF1A	Pathogenic	12	121416709	121416709	AG	A	reviewed by expert panel	OMIM:142410.0012
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
single nucleotide variant	NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)	HNF1A	Pathogenic	12	121426644	121426644	C	T	reviewed by expert panel	ClinGen:CA124475,OMIM:142410.0015
single nucleotide variant	NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)	HNF1A	Pathogenic	12	121426700	121426700	C	T	reviewed by expert panel	ClinGen:CA124478,OMIM:142410.0016
single nucleotide variant	NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)	HNF1A	Pathogenic	12	121432080	121432080	C	A	reviewed by expert panel	ClinGen:CA124481,OMIM:142410.0019