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.5122del (p.Leu1708fs)	TSC2	Likely pathogenic	16	2138101	2138101	AC	A	criteria provided, single submitter	ClinGen:CA021776,Tuberous sclerosis database (TSC2):TSC2_00875
single nucleotide variant	NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)	TSC2	Pathogenic	16	2138106	2138106	C	G	criteria provided, single submitter	ClinGen:CA021789,Tuberous sclerosis database (TSC2):TSC2_00291
single nucleotide variant	NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)	TSC2	Pathogenic	16	2138120	2138120	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021852,Tuberous sclerosis database (TSC2):TSC2_00878
single nucleotide variant	NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)	TSC2	Pathogenic/Likely pathogenic	16	2138130	2138130	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021894,Tuberous sclerosis database (TSC2):TSC2_00684
single nucleotide variant	NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)	TSC2	Pathogenic	16	2138286	2138286	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022169,Tuberous sclerosis database (TSC2):TSC2_01000
single nucleotide variant	NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)	TSC2	Pathogenic	16	2138287	2138287	G	A	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_00299,ClinGen:CA022177
Deletion	NM_000548.5(TSC2):c.5252_5259+19del	TSC2	Pathogenic	16	2138313	2138339	CGGCTCCGCCAGCGGGTAGGGAATATGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA210060,Tuberous sclerosis database (TSC2):TSC2_00661
single nucleotide variant	NM_000548.5(TSC2):c.598C>T (p.Gln200Ter)	TSC2	Pathogenic	16	2105519	2105519	C	T	criteria provided, single submitter	ClinGen:CA022625,Tuberous sclerosis database (TSC2):TSC2_00095
single nucleotide variant	NM_000548.5(TSC2):c.599+1G>A	TSC2	Pathogenic	16	2105521	2105521	G	A	criteria provided, single submitter	ClinGen:CA022627,Tuberous sclerosis database (TSC2):TSC2_00802
single nucleotide variant	NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)	TSC2	Pathogenic	16	2106243	2106243	G	T	criteria provided, single submitter	ClinGen:CA022725,Tuberous sclerosis database (TSC2):TSC2_00803

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