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.1205del (p.Phe402fs)	PKHD1	Likely pathogenic	6	51924754	51924754	GA	G	criteria provided, single submitter	ClinGen:CA16041070
single nucleotide variant	NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)	PKHD1	Likely pathogenic	6	51934285	51934285	G	A	criteria provided, single submitter	ClinGen:CA16041071
single nucleotide variant	NM_138694.4(PKHD1):c.603-2A>G	PKHD1	Likely pathogenic	6	51935870	51935870	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA3853845
Deletion	NM_138694.4(PKHD1):c.527+1del	PKHD1	Likely pathogenic	6	51938260	51938260	AC	A	criteria provided, single submitter	ClinGen:CA16041072
single nucleotide variant	NM_138694.4(PKHD1):c.448+2T>C	PKHD1	Likely pathogenic	6	51941072	51941072	A	G	criteria provided, single submitter	ClinGen:CA16041073
Duplication	NM_138694.4(PKHD1):c.156dup (p.Asn53fs)	PKHD1	Likely pathogenic	6	51947314	51947315	T	TG	criteria provided, single submitter	ClinGen:CA16041074
Deletion	NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)	PKHD1	Likely pathogenic	6	51949725	51949728	GCAGT	G	criteria provided, single submitter	ClinGen:CA16041075
Duplication	NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup)	PKD1	Likely pathogenic	16	2142484	2142485	C	CCTGCAGCCGCACCTG	criteria provided, single submitter	ClinGen:CA16042936
single nucleotide variant	NM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe)	PKD1	Likely pathogenic	16	2166917	2166917	C	A	criteria provided, single submitter	ClinGen:CA16042982
Deletion	NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)	PKD1	Pathogenic/Likely pathogenic	16	2153689	2153689	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043003

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