多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

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
Duplication	NM_000297.4(PKD2):c.1047dup (p.Val350fs)	PKD2	Pathogenic	4	88959605	88959606	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.992G>C (p.Cys331Ser)	PKD2	Likely pathogenic	4	88959551	88959551	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	PKD2	Pathogenic	4	88959532	88959532	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611587
single nucleotide variant	NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	PKD2	Pathogenic/Likely pathogenic	4	88959523	88959523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357632796
single nucleotide variant	NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	PKD2	Pathogenic	4	88959517	88959517	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	PKD2	Pathogenic	4	88959475	88959475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609391
single nucleotide variant	NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)	PKD2	Pathogenic/Likely pathogenic	4	88957379	88957379	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.709+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88940724	88940724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220617
Deletion	NM_000297.4(PKD2):c.670del (p.Leu224fs)	PKD2	Pathogenic	4	88940684	88940684	AC	A	criteria provided, single submitter	ClinGen:CA645372397
single nucleotide variant	NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	PKD2	Pathogenic	4	88940651	88940651	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575461