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.2743-9C>G	TSC2	Likely pathogenic	16	2126483	2126483	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018065,Tuberous sclerosis database (TSC2):TSC2_01993
single nucleotide variant	NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)	TSC2	Pathogenic/Likely pathogenic	16	2136751	2136751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021153,Tuberous sclerosis database (TSC2):TSC2_01241
single nucleotide variant	NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr)	TSC2	Likely pathogenic	16	2134716	2134716	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020540,Tuberous sclerosis database (TSC2):TSC2_02325
single nucleotide variant	NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys)	TSC2	Pathogenic	16	2129197	2129197	G	A	criteria provided, single submitter	ClinGen:CA018596,Tuberous sclerosis database (TSC2):TSC2_02225
single nucleotide variant	NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)	TSC2	Pathogenic	16	2098642	2098642	C	G	criteria provided, single submitter	ClinGen:CA017918,Tuberous sclerosis database (TSC2):TSC2_01143
Duplication	NM_000548.5(TSC2):c.724dup (p.Thr242fs)	TSC2	Pathogenic	16	2106719	2106720	T	TA	criteria provided, single submitter	ClinGen:CA022864,Tuberous sclerosis database (TSC2):TSC2_02333
single nucleotide variant	NM_000548.5(TSC2):c.1443+1G>T	TSC2	Pathogenic	16	2113055	2113055	G	T	criteria provided, single submitter	ClinGen:CA014818,Tuberous sclerosis database (TSC2):TSC2_02162
single nucleotide variant	NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)	TSC2	Likely pathogenic	16	2138103	2138103	T	C	criteria provided, single submitter	ClinGen:CA021783,Tuberous sclerosis database (TSC2):TSC2_02305
single nucleotide variant	NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter)	TSC2	Pathogenic	16	2136238	2136238	C	G	criteria provided, single submitter	ClinGen:CA020928,Tuberous sclerosis database (TSC2):TSC2_02391
single nucleotide variant	NM_000548.5(TSC2):c.4850-2A>G	TSC2	Pathogenic	16	2136731	2136731	A	G	criteria provided, single submitter	ClinGen:CA021123,Tuberous sclerosis database (TSC2):TSC2_02295