結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

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.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.336+5G>C	TSC2	Pathogenic/Likely pathogenic	16	2103458	2103458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607137
Deletion	NM_000548.5(TSC2):c.335_336+14del	TSC2	Likely pathogenic	16	2103448	2103463	GGGGCAGGTAAGGCCCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.337-1G>T	TSC2	Pathogenic	16	2104296	2104296	G	T	criteria provided, single submitter	ClinGen:CA019020,Tuberous sclerosis database (TSC2):TSC2_00057
single nucleotide variant	NM_000548.5(TSC2):c.337-1G>A	TSC2	Pathogenic	16	2104296	2104296	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019014,Tuberous sclerosis database (TSC2):TSC2_02412
single nucleotide variant	NM_000548.5(TSC2):c.340G>T (p.Glu114Ter)	TSC2	Pathogenic	16	2104300	2104300	G	T	criteria provided, single submitter	ClinGen:CA019116,Tuberous sclerosis database (TSC2):TSC2_02118
Deletion	NM_000548.5(TSC2):c.347del (p.Leu116fs)	TSC2	Pathogenic	16	2104305	2104305	GT	G	criteria provided, single submitter	-
Duplication	NM_000548.5(TSC2):c.352dup (p.Val118fs)	TSC2	Pathogenic	16	2104307	2104308	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA019247,Tuberous sclerosis database (TSC2):TSC2_00965
single nucleotide variant	NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)	TSC2	Pathogenic	16	2104318	2104318	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394306592
single nucleotide variant	NM_000548.5(TSC2):c.412G>T (p.Glu138Ter)	TSC2	Pathogenic	16	2104372	2104372	G	T	criteria provided, single submitter	ClinGen:CA394307095