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.2328C>A (p.Tyr776Ter)	TSC2	Pathogenic	16	2122957	2122957	C	A	criteria provided, single submitter	ClinGen:CA017191,Tuberous sclerosis database (TSC2):TSC2_00451
single nucleotide variant	NM_000548.5(TSC2):c.1257+2T>C	TSC2	Pathogenic	16	2112011	2112011	T	C	criteria provided, single submitter	ClinGen:CA014221,Tuberous sclerosis database (TSC2):TSC2_00166
single nucleotide variant	NM_000548.5(TSC2):c.1361+1G>A	TSC2	Pathogenic	16	2112602	2112602	G	A	criteria provided, single submitter	ClinGen:CA014515,Tuberous sclerosis database (TSC2):TSC2_00733
Deletion	NM_000548.5(TSC2):c.2261del (p.Pro754fs)	TSC2	Pathogenic	16	2122887	2122887	GC	G	criteria provided, single submitter	ClinGen:CA017115,Tuberous sclerosis database (TSC2):TSC2_00830
single nucleotide variant	NM_000548.5(TSC2):c.2355+1G>A	TSC2	Pathogenic	16	2122985	2122985	G	A	criteria provided, single submitter	ClinGen:CA017233,Tuberous sclerosis database (TSC2):TSC2_00673
single nucleotide variant	NM_000548.5(TSC2):c.2355+2T>C	TSC2	Pathogenic	16	2122986	2122986	T	C	criteria provided, single submitter	ClinGen:CA017242,Tuberous sclerosis database (TSC2):TSC2_00201
Deletion	NM_000548.5(TSC2):c.2071del (p.Arg691fs)	TSC2	Pathogenic	16	2121908	2121908	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016558,Tuberous sclerosis database (TSC2):TSC2_00107
single nucleotide variant	NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)	TSC2	Pathogenic	16	2121512	2121512	C	A	criteria provided, single submitter	ClinGen:CA016019,UniProtKB:P49815#VAR_009436,Tuberous sclerosis database (TSC2):TSC2_00188
single nucleotide variant	NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)	TSC2	Pathogenic/Likely pathogenic	16	2124255	2124255	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017384,Tuberous sclerosis database (TSC2):TSC2_01116
single nucleotide variant	NM_000548.5(TSC2):c.2098-1G>A	TSC2	Pathogenic	16	2122241	2122241	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016712,Tuberous sclerosis database (TSC2):TSC2_00439,Tuberous sclerosis database (TSC2):TSC2_01225