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

Excelでダウンロード

1
...
42
43
44
45
46
...
55

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
single nucleotide variant	NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter)	PKD1	Pathogenic	16	2140376	2140376	G	T	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)	PKD1	Pathogenic	16	2142544	2142550	TGGACGTA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)	PKD1	Pathogenic	16	2143909	2143909	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.10552_10585del (p.Glu3518fs)	PKD1	Pathogenic	16	2144126	2144159	TCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.10540C>T (p.Gln3514Ter)	PKD1	Pathogenic	16	2144171	2144171	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter)	PKD1	Pathogenic	16	2153468	2153468	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)	PKD1	Pathogenic	16	2153498	2153498	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)	PKD1	Pathogenic	16	2155352	2155352	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs)	PKD1	Pathogenic	16	2155975	2155978	TGTGA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)	PKD1	Pathogenic	16	2156129	2156129	G	A	criteria provided, multiple submitters, no conflicts	-

1
...
42
43
44
45
46
...
55