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
single nucleotide variant	NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)	PKD1	Likely pathogenic	16	2159338	2159338	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)	PKD2	Likely pathogenic	4	88929066	88929066	C	T	criteria provided, single submitter	-
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.992G>C (p.Cys331Ser)	PKD2	Likely pathogenic	4	88959551	88959551	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	PKD2	Pathogenic/Likely pathogenic	4	88959640	88959640	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs)	PKD2	Likely pathogenic	4	88964483	88964483	C	AA	criteria provided, single submitter	-
Duplication	NM_000297.4(PKD2):c.1668dup (p.Gln557fs)	PKD2	Pathogenic/Likely pathogenic	4	88973261	88973262	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter)	PKD2	Likely pathogenic	4	88986604	88986604	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter)	PKD2	Likely pathogenic	4	88986978	88986978	G	T	criteria provided, single submitter	-
Duplication	NM_000297.4(PKD2):c.2568dup (p.Val857fs)	PKD2	Likely pathogenic	4	88996008	88996009	T	TA	criteria provided, single submitter	-

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