結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

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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.1257+2T>G	TSC2	Pathogenic	16	2112011	2112011	T	G	criteria provided, single submitter	ClinGen:CA014229,Tuberous sclerosis database (TSC2):TSC2_01219
single nucleotide variant	NM_000548.5(TSC2):c.3814+1G>A	TSC2	Pathogenic	16	2131800	2131800	G	A	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_01201,ClinGen:CA019560
single nucleotide variant	NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)	TSC2	Pathogenic	16	2114276	2114276	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014898,Tuberous sclerosis database (TSC2):TSC2_02030
single nucleotide variant	NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter)	TSC2	Pathogenic	16	2126117	2126117	G	A	criteria provided, single submitter	ClinGen:CA017887,Tuberous sclerosis database (TSC2):TSC2_01230
single nucleotide variant	NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	TSC2	Pathogenic/Likely pathogenic	16	2121535	2121535	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016088,Tuberous sclerosis database (TSC2):TSC2_01196
single nucleotide variant	NM_000548.5(TSC2):c.1840-2A>G	TSC2	Likely pathogenic	16	2121509	2121509	A	G	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_02184,ClinGen:CA015992
single nucleotide variant	NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro)	TSC2	Likely pathogenic	16	2129327	2129327	T	C	criteria provided, single submitter	ClinGen:CA018665,Tuberous sclerosis database (TSC2):TSC2_02022
single nucleotide variant	NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)	TSC2	Likely pathogenic	16	2114412	2114412	T	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_02100,ClinGen:CA015160
Deletion	NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs)	TSC2	Pathogenic	16	2136759	2136762	GCCCA	G	criteria provided, single submitter	ClinGen:CA021175,Tuberous sclerosis database (TSC2):TSC2_00871,Tuberous sclerosis database (TSC2):TSC2_02298
single nucleotide variant	NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)	TSC2	Pathogenic	16	2114336	2114336	C	T	criteria provided, single submitter	ClinGen:CA014993,Tuberous sclerosis database (TSC2):TSC2_02164