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_000368.5(TSC1):c.2338A>T (p.Arg780Ter)	TSC1	Pathogenic/Likely pathogenic	9	135778045	135778045	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter)	TSC2	Pathogenic	16	2120501	2120501	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter)	TSC2	Pathogenic	16	2121609	2121609	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter)	TSC2	Pathogenic	16	2134999	2134999	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter)	TSC2	Pathogenic	16	2135232	2135232	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)	TSC1	Pathogenic	9	135772997	135772997	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000368.5(TSC1):c.1033del (p.Thr345fs)	TSC1	Likely pathogenic	9	135786497	135786497	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.225+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2100488	2100488	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000548.5(TSC2):c.1458del (p.Ser487fs)	TSC2	Pathogenic	16	2114287	2114287	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)	TSC1	Likely pathogenic	9	135801105	135801105	C	A	criteria provided, single submitter	-