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.3228+1G>C	PKHD1	Likely pathogenic	6	51900388	51900388	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.2408-2A>G	PKHD1	Likely pathogenic	6	51910988	51910988	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.2140+1G>C	PKHD1	Likely pathogenic	6	51917873	51917873	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.282-2A>T	PKHD1	Likely pathogenic	6	51944808	51944808	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.53-2A>G	PKHD1	Likely pathogenic	6	51948055	51948055	T	C	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)	PKHD1	Likely pathogenic	6	51523774	51523777	CTGAG	C	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer)	PKHD1	Likely pathogenic	6	51524730	51524730	GA	G	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609203	51609203	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.9998+1G>T	PKHD1	Likely pathogenic	6	51611518	51611518	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	PKHD1	Pathogenic/Likely pathogenic	6	51613044	51613044	G	A	criteria provided, multiple submitters, no conflicts	-

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