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
Deletion	NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)	PKD2	Pathogenic	4	88973262	88973269	TACAGTTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657393
single nucleotide variant	NM_000297.4(PKD2):c.1898+5G>A	PKD2	Pathogenic/Likely pathogenic	4	88977424	88977424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657394
single nucleotide variant	NM_000297.4(PKD2):c.2240+1G>A	PKD2	Pathogenic	4	88986648	88986648	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357624779
single nucleotide variant	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2	Pathogenic	4	88996055	88996055	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004304
single nucleotide variant	NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)	PKD1	Pathogenic	16	2140782	2140782	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394328039
single nucleotide variant	NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)	PKD1	Pathogenic	16	2140944	2140944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394328913
single nucleotide variant	NM_001009944.3(PKD1):c.11713-2A>G	PKD1	Pathogenic	16	2141177	2141177	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA394330372
Duplication	NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter)	PKD1	Likely pathogenic	16	2141565	2141566	G	GT	criteria provided, single submitter	ClinGen:CA658656504
single nucleotide variant	NM_001009944.3(PKD1):c.11412-2A>C	PKD1	Pathogenic	16	2141909	2141909	T	G	criteria provided, single submitter	ClinGen:CA394333612
single nucleotide variant	NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)	PKD1	Pathogenic/Likely pathogenic	16	2142574	2142574	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA394336466