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
Duplication	NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs)	TSC2	Pathogenic	16	2124236	2124237	C	CCA	criteria provided, single submitter	ClinGen:CA645369670
Duplication	NM_000548.5(TSC2):c.3095_3102dup (p.Phe1035fs)	TSC2	Pathogenic	16	2129158	2129159	C	CTCGATACG	criteria provided, single submitter	ClinGen:CA645369665
Deletion	NM_000548.5(TSC2):c.3777del (p.Ser1259fs)	TSC2	Pathogenic	16	2131762	2131762	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369666
single nucleotide variant	NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter)	TSC2	Pathogenic	16	2134547	2134547	G	T	criteria provided, single submitter	ClinGen:CA394301349
Deletion	NM_000548.5(TSC2):c.5069-3_5069-2del	TSC2	Likely pathogenic	16	2138046	2138047	CCA	C	criteria provided, single submitter	ClinGen:CA645369669
single nucleotide variant	NM_000548.5(TSC2):c.5161-2A>G	TSC2	Pathogenic	16	2138226	2138226	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA394313791
single nucleotide variant	NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)	TSC2	Pathogenic	16	2104318	2104318	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394306592
single nucleotide variant	NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)	TSC2	Pathogenic	16	2105421	2105421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394309138
single nucleotide variant	NM_000548.5(TSC2):c.2545+5G>C	TSC2	Likely pathogenic	16	2124395	2124395	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369636
Deletion	NM_000548.5(TSC2):c.3452del (p.Gly1151fs)	TSC2	Pathogenic	16	2130218	2130218	TG	T	criteria provided, single submitter	ClinGen:CA645369668