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.1249C>T (p.Gln417Ter)	TSC2	Pathogenic	16	2112001	2112001	C	T	criteria provided, single submitter	ClinGen:CA014169,Tuberous sclerosis database (TSC2):TSC2_00812
single nucleotide variant	NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)	TSC2	Pathogenic	16	2112007	2112007	C	T	criteria provided, single submitter	ClinGen:CA014179,Tuberous sclerosis database (TSC2):TSC2_00389
single nucleotide variant	NM_000548.5(TSC2):c.1839+1G>T	TSC2	Pathogenic	16	2120580	2120580	G	T	criteria provided, single submitter	ClinGen:CA015948,Tuberous sclerosis database (TSC2):TSC2_01122
single nucleotide variant	NM_000548.5(TSC2):c.1362-2A>G	TSC2	Pathogenic	16	2112971	2112971	A	G	criteria provided, single submitter	ClinGen:CA014545,Tuberous sclerosis database (TSC2):TSC2_00310
single nucleotide variant	NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)	TSC2	Pathogenic	16	2098752	2098752	A	T	criteria provided, single submitter	ClinGen:CA014603,Tuberous sclerosis database (TSC2):TSC2_00962
single nucleotide variant	NM_000548.5(TSC2):c.138+5G>A	TSC2	Pathogenic/Likely pathogenic	16	2098759	2098759	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014690,Tuberous sclerosis database (TSC2):TSC2_00034
single nucleotide variant	NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)	TSC2	Likely pathogenic	16	2113008	2113008	T	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_01121,ClinGen:CA014733
single nucleotide variant	NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg)	TSC2	Likely pathogenic	16	2113008	2113008	T	G	criteria provided, single submitter	ClinGen:CA014742,Tuberous sclerosis database (TSC2):TSC2_00400
single nucleotide variant	NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)	TSC1	Pathogenic	9	135801012	135801012	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007276,Tuberous sclerosis database (TSC1):TSC1_00522
single nucleotide variant	NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)	TSC1	Pathogenic	9	135801077	135801077	A	C	criteria provided, single submitter	ClinGen:CA006706,Tuberous sclerosis database (TSC1):TSC1_00650