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.4830G>A (p.Trp1610Ter)	TSC2	Pathogenic	16	2136361	2136361	G	A	criteria provided, single submitter	ClinGen:CA021078,Tuberous sclerosis database (TSC2):TSC2_00615
single nucleotide variant	NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)	TSC2	Pathogenic	16	2126573	2126573	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018233,Tuberous sclerosis database (TSC2):TSC2_00779
single nucleotide variant	NM_000548.5(TSC2):c.2639+1G>C	TSC2	Pathogenic	16	2125894	2125894	G	C	criteria provided, single submitter	ClinGen:CA017760,Tuberous sclerosis database (TSC2):TSC2_00475
single nucleotide variant	NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter)	TSC2	Pathogenic	16	2135281	2135281	C	G	criteria provided, single submitter	ClinGen:CA020771,Tuberous sclerosis database (TSC2):TSC2_00596
single nucleotide variant	NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter)	TSC2	Pathogenic	16	2137908	2137908	C	G	criteria provided, single submitter	ClinGen:CA021563,Tuberous sclerosis database (TSC2):TSC2_00633
single nucleotide variant	NM_000548.5(TSC2):c.4849+1G>A	TSC2	Pathogenic	16	2136381	2136381	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021094,Tuberous sclerosis database (TSC2):TSC2_00869
single nucleotide variant	NM_000548.5(TSC2):c.5069-1G>C	TSC2	Pathogenic	16	2138048	2138048	G	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00640,ClinGen:CA021646
single nucleotide variant	NM_000548.5(TSC2):c.3398-1G>A	TSC2	Pathogenic	16	2130165	2130165	G	A	criteria provided, single submitter	ClinGen:CA019095,Tuberous sclerosis database (TSC2):TSC2_00514
single nucleotide variant	NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)	TSC2	Likely pathogenic	16	2129146	2129146	T	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00723,ClinGen:CA018468,UniProtKB:P49815#VAR_022919
single nucleotide variant	NM_000548.5(TSC2):c.599+2T>G	TSC2	Likely pathogenic	16	2105522	2105522	T	G	criteria provided, single submitter	ClinGen:CA022631,Tuberous sclerosis database (TSC2):TSC2_00897