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.340G>T (p.Glu114Ter)	TSC2	Pathogenic	16	2104300	2104300	G	T	criteria provided, single submitter	ClinGen:CA019116,Tuberous sclerosis database (TSC2):TSC2_02118
Duplication	NM_000548.5(TSC2):c.4473dup (p.Val1492fs)	TSC2	Pathogenic	16	2134693	2134694	G	GA	criteria provided, single submitter	ClinGen:CA020504,Tuberous sclerosis database (TSC2):TSC2_02274
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
Duplication	NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)	TSC2	Pathogenic/Likely pathogenic	16	2134568	2134569	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA020298,Tuberous sclerosis database (TSC2):TSC2_01172
single nucleotide variant	NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter)	TSC2	Pathogenic	16	2134391	2134391	G	T	criteria provided, single submitter	ClinGen:CA020028,Tuberous sclerosis database (TSC2):TSC2_02261
Duplication	NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs)	TSC2	Pathogenic	16	2138268	2138269	A	ATATC	criteria provided, single submitter	ClinGen:CA022142,Tuberous sclerosis database (TSC2):TSC2_02327
single nucleotide variant	NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro)	TSC2	Likely pathogenic	16	2126094	2126094	G	C	criteria provided, single submitter	ClinGen:CA017834,Tuberous sclerosis database (TSC2):TSC2_01229
single nucleotide variant	NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter)	TSC2	Pathogenic	16	2134973	2134973	C	G	criteria provided, single submitter	ClinGen:CA020588,Tuberous sclerosis database (TSC2):TSC2_01994
single nucleotide variant	NM_000548.5(TSC2):c.1257+1G>A	TSC2	Pathogenic	16	2112010	2112010	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014198,Tuberous sclerosis database (TSC2):TSC2_02155
single nucleotide variant	NM_000548.5(TSC2):c.849-1G>C	TSC2	Pathogenic/Likely pathogenic	16	2108747	2108747	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023041,Tuberous sclerosis database (TSC2):TSC2_02084