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.9723dup (p.Gly3242fs)	PKHD1	Pathogenic	6	51612690	51612691	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51612795	51612795	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)	PKHD1	Pathogenic	6	51613411	51613411	G	C	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)	PKHD1	Pathogenic	6	51712703	51712707	GCGGCA	G	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)	PKHD1	Pathogenic	6	51720714	51720714	AG	A	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)	PKHD1	Pathogenic	6	51720775	51720791	GGTTAGACAATGTATCAC	G	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.5665del (p.Glu1889fs)	PKHD1	Pathogenic	6	51875193	51875193	TC	T	criteria provided, single submitter	-
Indel	NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)	PKHD1	Pathogenic/Likely pathogenic	6	51890114	51890116	AGA	CT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)	PKHD1	Pathogenic	6	51913386	51913387	A	AT	criteria provided, single submitter	-
Indel	NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)	PKHD1	Pathogenic	6	51915057	51915058	CC	A	criteria provided, single submitter	-

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