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_000548.5(TSC2):c.4516del (p.His1506fs)	TSC2	Pathogenic	16	2134973	2134973	AC	A	criteria provided, single submitter	ClinGen:CA020591,Tuberous sclerosis database (TSC2):TSC2_00990
Deletion	NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)	TSC2	Pathogenic	16	2131676	2131679	GCTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019473,Tuberous sclerosis database (TSC2):TSC2_00531
single nucleotide variant	NM_000548.5(TSC2):c.5068+1G>A	TSC2	Pathogenic	16	2137943	2137943	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021612,Tuberous sclerosis database (TSC2):TSC2_00637
single nucleotide variant	NM_000548.5(TSC2):c.4662+1G>A	TSC2	Pathogenic	16	2135324	2135324	G	A	criteria provided, single submitter	ClinGen:CA020846,Tuberous sclerosis database (TSC2):TSC2_00864
Duplication	NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)	TSC2	Pathogenic	16	2105489	2105490	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA022559,Tuberous sclerosis database (TSC2):TSC2_00093
Deletion	NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer)	TSC2	Pathogenic	16	2129165	2129165	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018529,Tuberous sclerosis database (TSC2):TSC2_00983
single nucleotide variant	NM_000548.5(TSC2):c.3132-2A>C	TSC2	Pathogenic	16	2129275	2129275	A	C	criteria provided, single submitter	ClinGen:CA018628,Tuberous sclerosis database (TSC2):TSC2_00315
single nucleotide variant	NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)	TSC2	Likely pathogenic	16	2136216	2136216	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020902,Tuberous sclerosis database (TSC2):TSC2_00603
Duplication	NM_000548.5(TSC2):c.3259dup (p.Glu1087fs)	TSC2	Pathogenic	16	2129399	2129400	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA018759,Tuberous sclerosis database (TSC2):TSC2_00844
single nucleotide variant	NM_000548.5(TSC2):c.3284+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2129430	2129430	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018811,Tuberous sclerosis database (TSC2):TSC2_00916

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