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_000548.5(TSC2):c.2233_2234del (p.Lys745fs)	TSC2	Pathogenic	16	2122861	2122862	CAA	C	criteria provided, single submitter	ClinGen:CA017035,Tuberous sclerosis database (TSC2):TSC2_00448
single nucleotide variant	NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)	TSC2	Pathogenic	16	2122880	2122880	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017090,Tuberous sclerosis database (TSC2):TSC2_00197
Duplication	NM_000548.5(TSC2):c.1563dup (p.His522fs)	TSC2	Pathogenic	16	2114391	2114392	C	CA	criteria provided, single submitter	ClinGen:CA015064,Tuberous sclerosis database (TSC2):TSC2_00409
single nucleotide variant	NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)	TSC2	Pathogenic	16	2122982	2122982	C	T	criteria provided, single submitter	ClinGen:CA017226,Tuberous sclerosis database (TSC2):TSC2_00708
single nucleotide variant	NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)	TSC2	Pathogenic	16	2115581	2115581	C	A	criteria provided, single submitter	ClinGen:CA015421,Tuberous sclerosis database (TSC2):TSC2_00223
single nucleotide variant	NM_000548.5(TSC2):c.1716+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2115637	2115637	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015487,Tuberous sclerosis database (TSC2):TSC2_00820
single nucleotide variant	NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)	TSC2	Pathogenic/Likely pathogenic	16	2131596	2131596	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019384,Tuberous sclerosis database (TSC2):TSC2_00885
single nucleotide variant	NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)	TSC2	Pathogenic	16	2124215	2124215	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017308,Tuberous sclerosis database (TSC2):TSC2_00204
single nucleotide variant	NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys)	TSC2	Pathogenic	16	2120533	2120533	A	G	criteria provided, single submitter	ClinGen:CA015795,Tuberous sclerosis database (TSC2):TSC2_00421
single nucleotide variant	NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)	TSC2	Pathogenic	16	2120534	2120534	C	G	criteria provided, single submitter	ClinGen:CA015804,Tuberous sclerosis database (TSC2):TSC2_00179