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
single nucleotide variant	NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)	TSC1	Pathogenic	9	135801029	135801029	C	T	criteria provided, single submitter	ClinGen:CA007151,Tuberous sclerosis database (TSC1):TSC1_00014
single nucleotide variant	NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)	TSC1	Pathogenic	9	135801028	135801028	C	T	criteria provided, single submitter	ClinGen:CA007158,Tuberous sclerosis database (TSC1):TSC1_00015
single nucleotide variant	NM_000368.5(TSC1):c.363+1G>A	TSC1	Likely pathogenic	9	135800973	135800973	C	T	criteria provided, single submitter	ClinGen:CA007428,Tuberous sclerosis database (TSC1):TSC1_00396
single nucleotide variant	NM_000368.5(TSC1):c.363+1G>T	TSC1	Likely pathogenic	9	135800973	135800973	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007434,Tuberous sclerosis database (TSC1):TSC1_00018
single nucleotide variant	NM_000368.5(TSC1):c.364-1G>C	TSC1	Pathogenic	9	135798880	135798880	C	G	criteria provided, single submitter	ClinGen:CA007466,Tuberous sclerosis database (TSC1):TSC1_00020
Deletion	NM_000368.5(TSC1):c.381_383del (p.Val128del)	TSC1	Likely pathogenic	9	135798860	135798862	GACA	G	criteria provided, single submitter	Tuberous sclerosis database (TSC1):TSC1_00410,Tuberous sclerosis database (TSC1):TSC1_00244,ClinGen:CA007485
Indel	NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)	TSC1	Pathogenic	9	135798837	135798848	ACACCAAGACGC	TG	criteria provided, single submitter	ClinGen:CA007540,Tuberous sclerosis database (TSC1):TSC1_00204
single nucleotide variant	NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)	TSC1	Pathogenic	9	135798798	135798798	G	A	criteria provided, single submitter	ClinGen:CA007594,Tuberous sclerosis database (TSC1):TSC1_00022
single nucleotide variant	NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)	TSC1	Pathogenic	9	135798752	135798752	C	T	criteria provided, single submitter	ClinGen:CA007633,Tuberous sclerosis database (TSC1):TSC1_00414
single nucleotide variant	NM_000368.5(TSC1):c.508+1G>C	TSC1	Pathogenic	9	135798734	135798734	C	G	criteria provided, single submitter	ClinGen:CA007656,Tuberous sclerosis database (TSC1):TSC1_00247

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