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

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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
Insertion	NM_000368.5(TSC1):c.988_989insGA (p.Leu330fs)	TSC1	Pathogenic	9	135786880	135786881	A	ATC	criteria provided, single submitter	-
Duplication	NM_000368.5(TSC1):c.86_90dup (p.Glu31fs)	TSC1	Pathogenic	9	135804169	135804170	C	CTTTAA	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2048596)_(2106697_?)del	TSC2	Pathogenic	16	2098597	2156698	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2081589)_(2088616_?)del	TSC2	Pathogenic	16	2131590	2138617	na	na	criteria provided, single submitter	-
Duplication	NM_000548.5(TSC2):c.765_766dup (p.Cys256fs)	TSC2	Pathogenic	16	2106760	2106761	C	CTT	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.1145_1146del (p.Thr382fs)	TSC2	Pathogenic	16	2111897	2111898	ACC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.2838-122G>A	TSC2	Pathogenic	16	2127477	2127477	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000548.5(TSC2):c.4524del (p.Phe1509fs)	TSC2	Pathogenic	16	2134978	2134978	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2625+367A>G	TSC1	Pathogenic/Likely pathogenic	9	135775735	135775735	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000368.5(TSC1):c.2545_2566del (p.Asn849fs)	TSC1	Pathogenic	9	135776161	135776182	CCAAGAACCAACAGCTGCCTGTT	C	criteria provided, single submitter	-

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