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.694G>T (p.Glu232Ter)	TSC1	Pathogenic	9	135796793	135796793	C	A	criteria provided, single submitter	ClinGen:CA008043,Tuberous sclerosis database (TSC1):TSC1_00038
single nucleotide variant	NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)	TSC1	Pathogenic/Likely pathogenic	9	135796754	135796754	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008088,Tuberous sclerosis database (TSC1):TSC1_00040
single nucleotide variant	NM_000368.5(TSC1):c.737+1G>A	TSC1	Pathogenic	9	135796749	135796749	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008095,Tuberous sclerosis database (TSC1):TSC1_00327
single nucleotide variant	NM_000368.5(TSC1):c.738-2A>G	TSC1	Pathogenic	9	135787846	135787846	T	C	criteria provided, single submitter	ClinGen:CA008143,Tuberous sclerosis database (TSC1):TSC1_00418
single nucleotide variant	NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)	TSC1	Pathogenic	9	135787810	135787810	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008208,Tuberous sclerosis database (TSC1):TSC1_00050
single nucleotide variant	NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)	TSC1	Pathogenic	9	135787757	135787757	A	C	criteria provided, single submitter	ClinGen:CA008254,Tuberous sclerosis database (TSC1):TSC1_00052
single nucleotide variant	NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)	TSC1	Pathogenic	9	135787691	135787691	A	C	criteria provided, single submitter	ClinGen:CA008344,Tuberous sclerosis database (TSC1):TSC1_00054
single nucleotide variant	NM_000368.5(TSC1):c.901C>T (p.Gln301Ter)	TSC1	Pathogenic	9	135787681	135787681	G	A	criteria provided, single submitter	ClinGen:CA008364,Tuberous sclerosis database (TSC1):TSC1_00056
single nucleotide variant	NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)	TSC1	Likely pathogenic	9	135787670	135787670	A	C	criteria provided, single submitter	ClinGen:CA008375,Tuberous sclerosis database (TSC1):TSC1_00294
single nucleotide variant	NM_000368.5(TSC1):c.913+1G>A	TSC1	Pathogenic	9	135787668	135787668	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008382,Tuberous sclerosis database (TSC1):TSC1_00250