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.778+1G>C	PKHD1	Likely pathogenic	6	51934254	51934254	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.11412-2dup	PKD1	Likely pathogenic	16	2141908	2141909	C	CT	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.10821+1del	PKD1	Likely pathogenic	16	2143811	2143811	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.8016+2T>C	PKD1	Likely pathogenic	16	2155321	2155321	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.1202-9G>A	PKD1	Pathogenic/Likely pathogenic	16	2167682	2167682	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.3907del (p.Val1303fs)	PKHD1	Pathogenic	6	51890701	51890701	AC	A	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)	PKD1	Pathogenic	16	2153300	2153304	AGCCCG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000297.4(PKD2):c.1320-2del	PKD2	Pathogenic	4	88967792	88967792	CA	C	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.473del (p.Glu158fs)	PKD2	Pathogenic	4	88929358	88929358	GA	G	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)	PKHD1	Pathogenic	6	51609213	51609213	GC	G	criteria provided, multiple submitters, no conflicts	-

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