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_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)	PKHD1	Pathogenic	6	51524159	51524159	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)	PKHD1	Likely pathogenic	6	51524180	51524180	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51524574	51524574	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51611519	51611519	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.5464del (p.Thr1822fs)	PKHD1	Likely pathogenic	6	51882344	51882344	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51920447	51920447	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)	PKHD1	Likely pathogenic	6	51935826	51935826	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.8642+1G>A	PKHD1	Pathogenic	6	51637499	51637499	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.390+1G>T	PKHD1	Pathogenic/Likely pathogenic	6	51944697	51944697	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000297.4(PKD2):c.1047dup (p.Val350fs)	PKD2	Pathogenic	4	88959605	88959606	C	CT	criteria provided, multiple submitters, no conflicts	-

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