リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

1
...
14
15
16
17
18
...
287

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_000179.3(MSH6):c.3379_3438+5del	MSH6	Pathogenic	2	48030765	48030829	AGCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC	A	reviewed by expert panel	ClinGen:CA330512
single nucleotide variant	NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)	MSH6	Likely pathogenic	2	48030801	48030801	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)	MSH6	Pathogenic	2	48030822	48030822	C	T	reviewed by expert panel	ClinGen:CA012815
single nucleotide variant	NM_000179.3(MSH6):c.3438+1G>A	MSH6	Likely pathogenic	2	48030825	48030825	G	A	reviewed by expert panel	ClinGen:CA012865
single nucleotide variant	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Likely pathogenic	2	48032048	48032048	G	T	reviewed by expert panel	ClinGen:CA012908
single nucleotide variant	NM_000179.3(MSH6):c.3439-2A>G	MSH6	Likely pathogenic	2	48032047	48032047	A	G	reviewed by expert panel	ClinGen:CA012917
single nucleotide variant	NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)	MSH6	Likely pathogenic	2	48032079	48032079	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012971
single nucleotide variant	NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)	MSH6	Pathogenic	2	48032097	48032097	G	T	reviewed by expert panel	ClinGen:CA013109
Deletion	NM_000179.3(MSH6):c.3511_3512del (p.Ile1170_Asp1171insTer)	MSH6	Pathogenic	2	48032121	48032122	TGA	T	reviewed by expert panel	ClinGen:CA013147
Deletion	NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)	MSH6	Pathogenic	2	48032122	48032123	GAT	G	reviewed by expert panel	ClinGen:CA013169

1
...
14
15
16
17
18
...
287