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
Duplication	NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs)	TSC1	Pathogenic	9	135781262	135781263	C	CCCGCAGGGCTTTCATCAGCACTG	criteria provided, single submitter	ClinGen:CA262182,Tuberous sclerosis database (TSC1):TSC1_00101
Deletion	NM_000368.5(TSC1):c.1697del (p.Pro566fs)	TSC1	Pathogenic	9	135781268	135781268	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005216,Tuberous sclerosis database (TSC1):TSC1_00102
Deletion	NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)	TSC1	Pathogenic	9	135781256	135781257	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005244,Tuberous sclerosis database (TSC1):TSC1_00103
Deletion	NM_000368.5(TSC1):c.1788del (p.Phe596fs)	TSC1	Pathogenic	9	135781177	135781177	CA	C	criteria provided, single submitter	ClinGen:CA005412,Tuberous sclerosis database (TSC1):TSC1_00111
single nucleotide variant	NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)	TSC1	Pathogenic	9	135802616	135802616	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005453,Tuberous sclerosis database (TSC1):TSC1_00007
Duplication	NM_000368.5(TSC1):c.1959dup (p.Gln654fs)	TSC1	Pathogenic	9	135781005	135781006	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA262220,Tuberous sclerosis database (TSC1):TSC1_00121
single nucleotide variant	NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)	TSC1	Pathogenic	9	135781005	135781005	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005658,Tuberous sclerosis database (TSC1):TSC1_00122
single nucleotide variant	NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)	TSC1	Pathogenic	9	135781002	135781002	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005663,Tuberous sclerosis database (TSC1):TSC1_00356
single nucleotide variant	NM_000368.5(TSC1):c.1997+1G>A	TSC1	Pathogenic	9	135780967	135780967	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005710,Tuberous sclerosis database (TSC1):TSC1_00125
single nucleotide variant	NM_000368.5(TSC1):c.1998-1G>C	TSC1	Pathogenic	9	135779842	135779842	C	G	criteria provided, single submitter	ClinGen:CA005737,Tuberous sclerosis database (TSC1):TSC1_00381