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.3284G>A (p.Ser1095Asn)	TSC2	Pathogenic/Likely pathogenic	16	2129429	2129429	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018827,Tuberous sclerosis database (TSC2):TSC2_00845
single nucleotide variant	NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter)	TSC2	Pathogenic	16	2129628	2129628	C	T	criteria provided, single submitter	ClinGen:CA018947,Tuberous sclerosis database (TSC2):TSC2_00512
single nucleotide variant	NM_000548.5(TSC2):c.336+1G>A	TSC2	Pathogenic	16	2103454	2103454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018966,Tuberous sclerosis database (TSC2):TSC2_00040
single nucleotide variant	NM_000548.5(TSC2):c.336+2T>G	TSC2	Pathogenic	16	2103455	2103455	T	G	criteria provided, single submitter	ClinGen:CA018982,Tuberous sclerosis database (TSC2):TSC2_00349
single nucleotide variant	NM_000548.5(TSC2):c.5069-2A>G	TSC2	Pathogenic	16	2138047	2138047	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021662,Tuberous sclerosis database (TSC2):TSC2_00006
Deletion	NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs)	TSC2	Pathogenic	16	2138053	2138056	TGGAG	T	criteria provided, single submitter	ClinGen:CA021674,Tuberous sclerosis database (TSC2):TSC2_00641
Deletion	NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)	TSC2	Pathogenic	16	2130169	2130169	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019105,Tuberous sclerosis database (TSC2):TSC2_00209
single nucleotide variant	NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)	TSC2	Pathogenic/Likely pathogenic	16	2125803	2125803	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017661,Tuberous sclerosis database (TSC2):TSC2_00833
single nucleotide variant	NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)	TSC2	Pathogenic	16	2125844	2125844	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017705,Tuberous sclerosis database (TSC2):TSC2_00133
Deletion	NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)	TSC2	Pathogenic	16	2134478	2134481	ACAGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020129,Tuberous sclerosis database (TSC2):TSC2_00276,Tuberous sclerosis database (TSC2):TSC2_00320

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