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_001009944.3(PKD1):c.2079dup (p.Pro694fs)	PKD1	Pathogenic	16	2165396	2165397	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043510
single nucleotide variant	NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	PKHD1	Pathogenic/Likely pathogenic	6	51799117	51799117	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3852378
single nucleotide variant	NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	PKD2	Pathogenic	4	88959475	88959475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609391
single nucleotide variant	NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)	PKHD1	Likely pathogenic	6	51907774	51907774	G	A	criteria provided, single submitter	ClinGen:CA3853068
Deletion	NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)	PKD1	Pathogenic	16	2140419	2140420	AAC	A	criteria provided, single submitter	ClinGen:CA16609451
single nucleotide variant	NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	PKD2	Pathogenic	4	88959532	88959532	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611587
single nucleotide variant	NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)	PKHD1	Pathogenic/Likely pathogenic	6	51768484	51768484	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3852124
single nucleotide variant	NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	PKHD1	Pathogenic/Likely pathogenic	6	51935807	51935807	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA3853831
single nucleotide variant	NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)	PKHD1	Likely pathogenic	6	51611640	51611640	C	T	criteria provided, single submitter	ClinGen:CA16612174
Indel	NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)	PKHD1	Pathogenic/Likely pathogenic	6	51913391	51913398	TCTTCTGT	CAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618296

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