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_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)	PKD1	Likely pathogenic	16	2140745	2140769	CAGAGCTCGGCATAATGTCTTGCCAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	PKD1	Pathogenic	16	2140752	2140752	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.11921_11942dup (p.Ala3981_Gln3982insHisTer)	PKD1	Likely pathogenic	16	2140945	2140946	C	CGCCACCTGGTCGAAGCTAGTGA	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs)	PKD1	Likely pathogenic	16	2141572	2141573	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)	PKD1	Likely pathogenic	16	2142069	2142069	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.11122G>T (p.Glu3708Ter)	PKD1	Likely pathogenic	16	2142989	2142989	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter)	PKD1	Likely pathogenic	16	2147348	2147348	G	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.10247del (p.Gly3416fs)	PKD1	Likely pathogenic	16	2147478	2147478	TC	T	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)	PKD1	Likely pathogenic	16	2149956	2149959	CGAGT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala)	PKD1	Likely pathogenic	16	2150534	2150534	C	G	criteria provided, single submitter	-

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