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.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.526C>T (p.Gln176Ter)	HNF1A	Pathogenic	12	121426835	121426835	C	T	reviewed by expert panel	ClinGen:CA6831769
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.527-1G>A	HNF1A	Pathogenic	12	121431322	121431322	G	A	reviewed by expert panel	ClinGen:CA386963414
single nucleotide variant	NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	HNF1A	Pathogenic	12	121431394	121431394	C	T	reviewed by expert panel	ClinGen:CA214311
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.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.616T>A (p.Trp206Arg)	HNF1A	Likely pathogenic	12	121431412	121431412	T	A	reviewed by expert panel	ClinGen:CA16609261
single nucleotide variant	NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)	HNF1A	Pathogenic	12	121431416	121431416	G	A	reviewed by expert panel	ClinGen:CA386964424
single nucleotide variant	NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	HNF1A	Likely pathogenic	12	121431422	121431422	C	A	reviewed by expert panel	-