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
Deletion	NC_000016.9:g.(?_2100381)_(2100507_?)del	TSC2	Pathogenic	16	2100381	2100507	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.226-2A>G	TSC2	Pathogenic	16	2103341	2103341	A	G	criteria provided, single submitter	ClinGen:CA017124,Tuberous sclerosis database (TSC2):TSC2_00798
single nucleotide variant	NM_000548.5(TSC2):c.226-1G>A	TSC2	Pathogenic/Likely pathogenic	16	2103342	2103342	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017118,Tuberous sclerosis database (TSC2):TSC2_02329
single nucleotide variant	NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)	TSC2	Pathogenic	16	2103362	2103362	G	A	criteria provided, single submitter	ClinGen:CA017462,Tuberous sclerosis database (TSC2):TSC2_01145
single nucleotide variant	NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)	TSC2	Pathogenic	16	2103363	2103363	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	TSC2	Pathogenic	16	2103385	2103385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017893,Tuberous sclerosis database (TSC2):TSC2_00036
single nucleotide variant	NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)	TSC2	Pathogenic	16	2103445	2103445	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620085
Deletion	NM_000548.5(TSC2):c.329del (p.Gln110fs)	TSC2	Pathogenic	16	2103446	2103446	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.336+1G>A	TSC2	Pathogenic	16	2103454	2103454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018966,Tuberous sclerosis database (TSC2):TSC2_00040
single nucleotide variant	NM_000548.5(TSC2):c.336+1G>C	TSC2	Pathogenic	16	2103454	2103454	G	C	criteria provided, single submitter	ClinGen:CA394306095