結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.211-2A>C	TSC1	Pathogenic	9	135801128	135801128	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006053,Tuberous sclerosis database (TSC1):TSC1_00243
single nucleotide variant	NM_000368.5(TSC1):c.211-1G>T	TSC1	Pathogenic	9	135801127	135801127	C	A	criteria provided, single submitter	ClinGen:CA006049,Tuberous sclerosis database (TSC1):TSC1_00476
single nucleotide variant	NM_000368.5(TSC1):c.211-1G>A	TSC1	Pathogenic	9	135801127	135801127	C	T	criteria provided, single submitter	ClinGen:CA006045,Tuberous sclerosis database (TSC1):TSC1_00009
single nucleotide variant	NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)	TSC1	Likely pathogenic	9	135801105	135801105	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)	TSC1	Pathogenic	9	135801077	135801077	A	C	criteria provided, single submitter	ClinGen:CA006706,Tuberous sclerosis database (TSC1):TSC1_00650
Duplication	NM_000368.5(TSC1):c.261dup (p.Ser88fs)	TSC1	Pathogenic	9	135801075	135801076	A	AT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000368.5(TSC1):c.271del (p.Ser91fs)	TSC1	Pathogenic	9	135801066	135801066	GA	G	criteria provided, single submitter	-
Duplication	NM_000368.5(TSC1):c.276dup (p.Leu93fs)	TSC1	Pathogenic	9	135801060	135801061	G	GT	criteria provided, single submitter	ClinGen:CA262319,Tuberous sclerosis database (TSC1):TSC1_00202
single nucleotide variant	NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)	TSC1	Pathogenic	9	135801029	135801029	C	T	criteria provided, single submitter	ClinGen:CA007151,Tuberous sclerosis database (TSC1):TSC1_00014
single nucleotide variant	NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)	TSC1	Pathogenic	9	135801028	135801028	C	T	criteria provided, single submitter	ClinGen:CA007158,Tuberous sclerosis database (TSC1):TSC1_00015