結節性硬化症 - MGenReviews

結節性硬化症

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
...
83
84
85

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_000548.5(TSC2):c.1257+1G>C	TSC2	Pathogenic	16	2112010	2112010	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.5068+1G>T	TSC2	Pathogenic	16	2137943	2137943	G	T	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2081575)_(2104662_?)del	TSC2	Pathogenic	16	2131576	2154663	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.2356-1G>C	TSC2	Pathogenic	16	2124200	2124200	G	C	criteria provided, single submitter	-
Deletion	NC_000016.9:g.(?_624055)_(2115656_?)del	TSC2	Pathogenic	16	624055	2115656	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter)	TSC1	Pathogenic	9	135777032	135777032	T	A	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.959_965del (p.Leu320fs)	TSC1	Pathogenic	9	135786904	135786910	CATATTTA	C	criteria provided, single submitter	-

1
...
83
84
85