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_138694.4(PKHD1):c.10199dup (p.Met3400fs)	PKHD1	Likely pathogenic	6	51524724	51524725	C	CA	criteria provided, single submitter	ClinGen:CA16041028
Deletion	NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)	PKHD1	Likely pathogenic	6	51524734	51524738	TTGGTA	T	criteria provided, single submitter	ClinGen:CA3851132
Duplication	NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609229	51609230	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041029
single nucleotide variant	NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51611616	51611616	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851295
Duplication	NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)	PKHD1	Likely pathogenic	6	51611657	51611658	C	CAACT	criteria provided, single submitter	ClinGen:CA16041030
Deletion	NM_138694.4(PKHD1):c.9743del (p.Phe3248fs)	PKHD1	Likely pathogenic	6	51612671	51612671	GA	G	criteria provided, single submitter	ClinGen:CA3851347
single nucleotide variant	NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51612696	51612696	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041031
single nucleotide variant	NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51612731	51612731	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041032
Duplication	NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs)	PKHD1	Likely pathogenic	6	51612940	51612941	C	CATGG	criteria provided, single submitter	ClinGen:CA16041033
Deletion	NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)	PKHD1	Likely pathogenic	6	51613456	51613456	GA	G	criteria provided, single submitter	ClinGen:CA16041034

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