先天性QT延長症候群 - MGenReviews

先天性QT延長症候群

疾患の紹介

病的バリアントリスト

Excelでダウンロード

1
...
50
51
52
53
54
...
96

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_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	KCNQ1	Pathogenic/Likely pathogenic	11	2797214	2797214	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005994,UniProtKB:P51787#VAR_008950
single nucleotide variant	NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)	KCNQ1	Pathogenic/Likely pathogenic	11	2797236	2797236	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006028,UniProtKB:P51787#VAR_068317
single nucleotide variant	NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	KCNQ1	Pathogenic/Likely pathogenic	11	2797263	2797263	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006147,UniProtKB:P51787#VAR_068318
single nucleotide variant	NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr)	KCNQ1	Pathogenic/Likely pathogenic	11	2798227	2798227	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006206,UniProtKB:P51787#VAR_068319
single nucleotide variant	NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	KCNQ1	Pathogenic/Likely pathogenic	11	2798227	2798227	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006211,UniProtKB:P51787#VAR_009932
single nucleotide variant	NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)	KCNQ1	Pathogenic/Likely pathogenic	11	2798230	2798230	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006217,UniProtKB:P51787#VAR_075023
single nucleotide variant	NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	KCNQ1	Pathogenic/Likely pathogenic	11	2798232	2798232	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006232,UniProtKB:P51787#VAR_068321
single nucleotide variant	NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)	KCNQ1	Likely pathogenic	11	2798233	2798233	G	C	criteria provided, single submitter	ClinGen:CA006239
single nucleotide variant	NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)	KCNQ1	Pathogenic/Likely pathogenic	11	2799245	2799245	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006369,UniProtKB:P51787#VAR_008953
single nucleotide variant	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1	Pathogenic/Likely pathogenic	11	2799254	2799254	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006388,UniProtKB:P51787#VAR_009934

1
...
50
51
52
53
54
...
96