多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

疾患の紹介

病的バリアントリスト

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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
Deletion	NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)	PKD1	Pathogenic	16	2158579	2158585	CGCTGGCA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509211
single nucleotide variant	NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter)	PKD1	Pathogenic	16	2160910	2160910	C	A	criteria provided, single submitter	ClinGen:CA394380975
single nucleotide variant	NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter)	PKD1	Pathogenic	16	2162351	2162351	G	T	criteria provided, single submitter	ClinGen:CA394383399
single nucleotide variant	NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)	PKD1	Pathogenic	16	2163215	2163215	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394385563
single nucleotide variant	NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)	PKD1	Pathogenic	16	2164872	2164872	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394389261
single nucleotide variant	NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)	PKD1	Pathogenic	16	2153354	2153354	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394362329
Deletion	NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs)	PKD1	Likely pathogenic	16	2140491	2140500	CCAGGACTCGG	C	criteria provided, single submitter	ClinGen:CA658653829
Deletion	NM_000297.4(PKD2):c.514del (p.Asp172fs)	PKD2	Pathogenic	4	88929396	88929396	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657391
single nucleotide variant	NM_000297.4(PKD2):c.603G>A (p.Trp201Ter)	PKD2	Pathogenic	4	88940617	88940617	G	A	criteria provided, single submitter	ClinGen:CA357628188
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

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