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_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)	TSC2	Pathogenic	16	2131735	2131735	C	G	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_00528,ClinGen:CA019521
single nucleotide variant	NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)	TSC2	Pathogenic	16	2134319	2134319	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019945,Tuberous sclerosis database (TSC2):TSC2_00557
single nucleotide variant	NM_000548.5(TSC2):c.2743-1G>A	TSC2	Pathogenic	16	2126491	2126491	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018023,Tuberous sclerosis database (TSC2):TSC2_00838
single nucleotide variant	NM_000548.5(TSC2):c.2743-1G>C	TSC2	Pathogenic	16	2126491	2126491	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018028,Tuberous sclerosis database (TSC2):TSC2_00691
Deletion	NM_000548.5(TSC2):c.3791del (p.Pro1264fs)	TSC2	Pathogenic	16	2131772	2131772	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019548,Tuberous sclerosis database (TSC2):TSC2_00534
single nucleotide variant	NM_000548.5(TSC2):c.2546-1G>A	TSC2	Pathogenic	16	2125799	2125799	G	A	criteria provided, single submitter	ClinGen:CA017640,Tuberous sclerosis database (TSC2):TSC2_00471
single nucleotide variant	NM_000548.5(TSC2):c.2546-1G>C	TSC2	Pathogenic	16	2125799	2125799	G	C	criteria provided, single submitter	ClinGen:CA017646,Tuberous sclerosis database (TSC2):TSC2_00910
single nucleotide variant	NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)	TSC2	Pathogenic/Likely pathogenic	16	2126076	2126076	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017805,Tuberous sclerosis database (TSC2):TSC2_00913
single nucleotide variant	NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter)	TSC2	Pathogenic	16	2124225	2124225	C	T	criteria provided, single submitter	ClinGen:CA017333,Tuberous sclerosis database (TSC2):TSC2_00456
single nucleotide variant	NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)	TSC2	Pathogenic/Likely pathogenic	16	2126095	2126095	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017841,Tuberous sclerosis database (TSC2):TSC2_01111

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