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.4439T>A (p.Leu1480Ter)	TSC2	Pathogenic	16	2134662	2134662	T	A	criteria provided, single submitter	ClinGen:CA020472,Tuberous sclerosis database (TSC2):TSC2_00585
single nucleotide variant	NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)	TSC2	Pathogenic	16	2138106	2138106	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021795,UniProtKB:P49815#VAR_008030,Tuberous sclerosis database (TSC2):TSC2_00059
single nucleotide variant	NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)	TSC2	Pathogenic	16	2138118	2138118	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021840,Tuberous sclerosis database (TSC2):TSC2_00646
single nucleotide variant	NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)	TSC2	Likely pathogenic	16	2138118	2138118	G	C	criteria provided, single submitter	ClinGen:CA021846,Tuberous sclerosis database (TSC2):TSC2_00877
Duplication	NM_000548.5(TSC2):c.871dup (p.Leu291fs)	TSC2	Pathogenic	16	2108766	2108767	G	GC	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00550,ClinGen:CA023064
Duplication	NM_000548.5(TSC2):c.894dup (p.Val299fs)	TSC2	Pathogenic	16	2108787	2108788	G	GT	criteria provided, single submitter	ClinGen:CA023085,Tuberous sclerosis database (TSC2):TSC2_00970
single nucleotide variant	NM_000548.5(TSC2):c.5161-1G>A	TSC2	Pathogenic	16	2138227	2138227	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022008,Tuberous sclerosis database (TSC2):TSC2_00657
single nucleotide variant	NM_000548.5(TSC2):c.5161-1G>C	TSC2	Pathogenic	16	2138227	2138227	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022014,Tuberous sclerosis database (TSC2):TSC2_00658
single nucleotide variant	NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)	TSC2	Pathogenic	16	2108871	2108871	C	A	criteria provided, single submitter	ClinGen:CA023189,Tuberous sclerosis database (TSC2):TSC2_00380
single nucleotide variant	NM_000548.5(TSC2):c.975+1G>A	TSC2	Likely pathogenic	16	2108875	2108875	G	A	criteria provided, single submitter	ClinGen:CA023203,Tuberous sclerosis database (TSC2):TSC2_01050