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
Duplication	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	PKD2	Pathogenic	4	88929082	88929083	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657390,OMIM:173910.0007
single nucleotide variant	NM_000297.4(PKD2):c.2019+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88979256	88979256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357623301
Deletion	NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)	PKHD1	Pathogenic	6	51882397	51882397	AC	A	criteria provided, single submitter	ClinGen:CA658657597
single nucleotide variant	NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)	PKHD1	Pathogenic	6	51908433	51908433	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA364442529
Deletion	NM_138694.4(PKHD1):c.4295del (p.Val1432fs)	PKHD1	Pathogenic	6	51890313	51890313	CA	C	criteria provided, single submitter	ClinGen:CA567636252
single nucleotide variant	NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)	PKHD1	Pathogenic	6	51497416	51497416	C	T	criteria provided, single submitter	ClinGen:CA364420082
single nucleotide variant	NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser)	PKHD1	Pathogenic	6	51524296	51524296	A	G	criteria provided, single submitter	ClinGen:CA364433489
Deletion	NM_138694.4(PKHD1):c.10443del (p.Leu3481fs)	PKHD1	Pathogenic	6	51524481	51524481	GC	G	criteria provided, single submitter	ClinGen:CA658657598
single nucleotide variant	NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	PKHD1	Pathogenic	6	51524750	51524750	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851135
Deletion	NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs)	PKHD1	Likely pathogenic	6	51900458	51900459	ATC	A	criteria provided, single submitter	ClinGen:CA658683445

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