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	NM_000368.5(TSC1):c.587del (p.Pro196fs)	TSC1	Pathogenic	9	135797282	135797282	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA319327
Deletion	NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)	TSC2	Pathogenic	16	2098647	2098647	CT	C	criteria provided, single submitter	ClinGen:CA319605
single nucleotide variant	NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)	TSC2	Pathogenic	16	2112498	2112498	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319432
Deletion	NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs)	TSC2	Pathogenic	16	2114361	2114383	TTGCTGGTGGACCTGGCAGAGGGC	T	criteria provided, single submitter	ClinGen:CA319573
single nucleotide variant	NM_000548.5(TSC2):c.1946+2T>A	TSC2	Pathogenic	16	2121619	2121619	T	A	criteria provided, single submitter	ClinGen:CA319582
Duplication	NM_000548.5(TSC2):c.2491dup (p.Thr831fs)	TSC2	Pathogenic	16	2124335	2124336	C	CA	criteria provided, single submitter	ClinGen:CA319574
single nucleotide variant	NM_000548.5(TSC2):c.2639+1G>A	TSC2	Pathogenic	16	2125894	2125894	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA319483
single nucleotide variant	NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter)	TSC2	Pathogenic	16	2129325	2129325	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA319583
single nucleotide variant	NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter)	TSC2	Pathogenic	16	2131609	2131609	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA319518
Deletion	NM_000548.5(TSC2):c.3736del (p.Asp1246fs)	TSC2	Pathogenic	16	2131719	2131719	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA319606