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.421G>T (p.Glu141Ter)	TSC2	Pathogenic	16	2104381	2104381	G	T	criteria provided, single submitter	ClinGen:CA16614902
Deletion	NM_000548.5(TSC2):c.428del (p.Phe143fs)	TSC2	Pathogenic	16	2104385	2104385	GT	G	criteria provided, single submitter	ClinGen:CA16043063
single nucleotide variant	NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)	TSC2	Likely pathogenic	16	2104400	2104400	C	A	criteria provided, single submitter	ClinGen:CA394308347
single nucleotide variant	NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)	TSC2	Pathogenic	16	2104435	2104435	G	T	criteria provided, single submitter	ClinGen:CA394308572
single nucleotide variant	NM_000548.5(TSC2):c.478C>G (p.Leu160Val)	TSC2	Likely pathogenic	16	2104438	2104438	C	G	criteria provided, single submitter	ClinGen:CA021005,UniProtKB:P49815#VAR_009416,Tuberous sclerosis database (TSC2):TSC2_00154
single nucleotide variant	NM_000548.5(TSC2):c.481+1G>T	TSC2	Pathogenic	16	2104442	2104442	G	T	criteria provided, single submitter	ClinGen:CA021010,Tuberous sclerosis database (TSC2):TSC2_00353
single nucleotide variant	NM_000548.5(TSC2):c.481+5G>T	TSC2	Pathogenic	16	2104446	2104446	G	T	criteria provided, single submitter	ClinGen:CA021024,Tuberous sclerosis database (TSC2):TSC2_00966
single nucleotide variant	NM_000548.5(TSC2):c.481+5G>A	TSC2	Pathogenic	16	2104446	2104446	G	A	criteria provided, single submitter	ClinGen:CA021022,Tuberous sclerosis database (TSC2):TSC2_01146
single nucleotide variant	NM_000548.5(TSC2):c.482-1G>C	TSC2	Likely pathogenic	16	2105402	2105402	G	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00968,ClinGen:CA021029
single nucleotide variant	NM_000548.5(TSC2):c.482-1G>A	TSC2	Pathogenic	16	2105402	2105402	G	A	criteria provided, single submitter	ClinGen:CA394309013