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.11330del (p.Leu3777fs)	PKHD1	Likely pathogenic	6	51512897	51512897	CA	C	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.11276del (p.Pro3759fs)	PKHD1	Likely pathogenic	6	51513917	51513917	TG	T	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)	PKHD1	Pathogenic	6	51524068	51524068	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)	PKHD1	Pathogenic/Likely pathogenic	6	51524072	51524072	CT	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)	PKHD1	Likely pathogenic	6	51609252	51609253	CC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.8677dup (p.His2893fs)	PKHD1	Pathogenic/Likely pathogenic	6	51619701	51619702	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.5909-2del	PKHD1	Pathogenic/Likely pathogenic	6	51799122	51799122	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs)	PKHD1	Likely pathogenic	6	51875166	51875167	T	TGGGC	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)	PKHD1	Pathogenic	6	51887656	51887656	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.5237-2A>C	PKHD1	Likely pathogenic	6	51887744	51887744	T	G	criteria provided, single submitter	-

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