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_138694.4(PKHD1):c.3313del (p.Ser1105fs)	PKHD1	Pathogenic/Likely pathogenic	6	51897879	51897879	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041060
Deletion	NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)	PKHD1	Pathogenic/Likely pathogenic	6	51897890	51897890	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041061
single nucleotide variant	NM_138694.4(PKHD1):c.3229-2A>C	PKHD1	Pathogenic/Likely pathogenic	6	51897965	51897965	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041062
Deletion	NM_138694.4(PKHD1):c.3229-2del	PKHD1	Likely pathogenic	6	51897965	51897965	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041063
Deletion	NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)	PKHD1	Pathogenic/Likely pathogenic	6	51908431	51908431	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041064
Deletion	NM_138694.4(PKHD1):c.2715+2_2715+14del	PKHD1	Likely pathogenic	6	51909750	51909762	CCCATTCACTCTCA	C	criteria provided, single submitter	ClinGen:CA16041065
Deletion	NM_138694.4(PKHD1):c.2590del (p.Arg864fs)	PKHD1	Pathogenic/Likely pathogenic	6	51910804	51910804	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041066
single nucleotide variant	NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)	PKHD1	Pathogenic/Likely pathogenic	6	51914970	51914970	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041067
single nucleotide variant	NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51915042	51915042	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041068
Deletion	NM_138694.4(PKHD1):c.1409del (p.Gly470fs)	PKHD1	Likely pathogenic	6	51923224	51923224	AC	A	criteria provided, single submitter	ClinGen:CA16041069

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