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.8832del (p.Arg2945fs)	PKHD1	Likely pathogenic	6	51618117	51618117	GA	G	criteria provided, single submitter	ClinGen:CA16041035
Deletion	NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)	PKHD1	Likely pathogenic	6	51619614	51619615	CCT	C	criteria provided, single submitter	ClinGen:CA3851539
Deletion	NM_138694.4(PKHD1):c.8162del (p.Pro2721fs)	PKHD1	Likely pathogenic	6	51701213	51701213	TG	T	criteria provided, single submitter	ClinGen:CA16041036
single nucleotide variant	NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)	PKHD1	Likely pathogenic	6	51712630	51712630	G	A	criteria provided, single submitter	ClinGen:CA16041037
Deletion	NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer)	PKHD1	Likely pathogenic	6	51720709	51720709	TC	T	criteria provided, single submitter	ClinGen:CA16041038
Deletion	NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs)	PKHD1	Likely pathogenic	6	51720736	51720736	AG	A	criteria provided, single submitter	ClinGen:CA16041039
Deletion	NM_138694.4(PKHD1):c.7713del (p.His2572fs)	PKHD1	Likely pathogenic	6	51732681	51732681	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041040
single nucleotide variant	NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)	PKHD1	Likely pathogenic	6	51732698	51732698	C	A	criteria provided, single submitter	ClinGen:CA16041041
single nucleotide variant	NM_138694.4(PKHD1):c.7350+1G>T	PKHD1	Likely pathogenic	6	51747890	51747890	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041042
Deletion	NM_138694.4(PKHD1):c.7270del (p.Asp2424fs)	PKHD1	Likely pathogenic	6	51747971	51747971	TC	T	criteria provided, single submitter	ClinGen:CA16041043

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