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.1165G>T (p.Gly389Ter)	TSC1	Pathogenic	9	135786056	135786056	C	A	criteria provided, single submitter	ClinGen:CA10603158
single nucleotide variant	NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter)	TSC2	Pathogenic	16	2108829	2108829	T	A	criteria provided, single submitter	ClinGen:CA10603248
Duplication	NM_000548.5(TSC2):c.5203dup (p.Ile1735fs)	TSC2	Pathogenic	16	2138269	2138270	T	TA	criteria provided, single submitter	ClinGen:CA10603258
single nucleotide variant	NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)	TSC2	Pathogenic	16	2111947	2111947	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603287
Deletion	NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs)	TSC2	Pathogenic	16	2125832	2125833	CTT	C	criteria provided, single submitter	ClinGen:CA10603289
single nucleotide variant	NM_000548.5(TSC2):c.2640-2A>G	TSC2	Pathogenic/Likely pathogenic	16	2126067	2126067	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603300
Deletion	NM_000548.5(TSC2):c.4544del (p.Asn1515fs)	TSC2	Pathogenic	16	2135000	2135000	CA	C	criteria provided, single submitter	ClinGen:CA10603302
Deletion	NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs)	TSC2	Pathogenic	16	2135003	2135006	ACAAG	A	criteria provided, single submitter	ClinGen:CA10603313
single nucleotide variant	NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter)	TSC2	Pathogenic	16	2121795	2121795	A	T	criteria provided, single submitter	ClinGen:CA10603361
Deletion	NM_000548.5(TSC2):c.3565del (p.Leu1189fs)	TSC2	Pathogenic	16	2130330	2130330	GC	G	criteria provided, single submitter	ClinGen:CA10603362