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.4571C>A (p.Ser1524Ter)	TSC2	Pathogenic	16	2135232	2135232	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.1938C>A (p.Cys646Ter)	TSC2	Pathogenic	16	2121609	2121609	C	A	criteria provided, single submitter	-
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.3G>T (p.Met1Ile)	TSC2	Likely pathogenic	16	2098619	2098619	G	T	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.4369del (p.Arg1457fs)	TSC2	Pathogenic	16	2134591	2134591	TC	T	criteria provided, single submitter	-
Indel	NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter)	TSC2	Pathogenic	16	2130315	2130316	CT	TA	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.3448del (p.Leu1150fs)	TSC2	Pathogenic	16	2130215	2130215	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg)	TSC2	Likely pathogenic	16	2129155	2129155	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000548.5(TSC2):c.329del (p.Gln110fs)	TSC2	Pathogenic	16	2103446	2103446	CA	C	criteria provided, single submitter	-