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

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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
Deletion	NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)	TSC1	Pathogenic	9	135776165	135776168	GAACC	G	criteria provided, single submitter	ClinGen:CA006647,Tuberous sclerosis database (TSC1):TSC1_00408
Deletion	NM_000368.5(TSC1):c.2569del (p.Glu857fs)	TSC1	Pathogenic	9	135776158	135776158	TC	T	criteria provided, single submitter	ClinGen:CA006664,Tuberous sclerosis database (TSC1):TSC1_00173
single nucleotide variant	NM_000368.5(TSC1):c.2626-2A>G	TSC1	Likely pathogenic	9	135772999	135772999	T	C	criteria provided, single submitter	ClinGen:CA006734,Tuberous sclerosis database (TSC1):TSC1_00234
Duplication	NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs)	TSC1	Pathogenic	9	135772950	135772951	G	GTT	criteria provided, single submitter	ClinGen:CA262309,Tuberous sclerosis database (TSC1):TSC1_00255
Duplication	NM_000368.5(TSC1):c.2672dup (p.Asn891fs)	TSC1	Pathogenic	9	135772950	135772951	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA262310,Tuberous sclerosis database (TSC1):TSC1_00178
single nucleotide variant	NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)	TSC1	Pathogenic	9	135772934	135772934	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006867,Tuberous sclerosis database (TSC1):TSC1_00369
single nucleotide variant	NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)	TSC1	Pathogenic	9	135772931	135772931	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006876,Tuberous sclerosis database (TSC1):TSC1_00180
single nucleotide variant	NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)	TSC1	Pathogenic	9	135772907	135772907	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006937,Tuberous sclerosis database (TSC1):TSC1_00181
Duplication	NM_000368.5(TSC1):c.276dup (p.Leu93fs)	TSC1	Pathogenic	9	135801060	135801061	G	GT	criteria provided, single submitter	ClinGen:CA262319,Tuberous sclerosis database (TSC1):TSC1_00202
single nucleotide variant	NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)	TSC1	Pathogenic/Likely pathogenic	9	135772817	135772817	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007024,Tuberous sclerosis database (TSC1):TSC1_00308

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