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.572T>G (p.Leu191Arg)	TSC1	Pathogenic	9	135797297	135797297	A	C	criteria provided, single submitter	ClinGen:CA007790,Tuberous sclerosis database (TSC1):TSC1_00248
single nucleotide variant	NM_000368.5(TSC1):c.572T>A (p.Leu191His)	TSC1	Likely pathogenic	9	135797297	135797297	A	T	criteria provided, single submitter	ClinGen:CA007782,UniProtKB:Q92574#VAR_009399,Tuberous sclerosis database (TSC1):TSC1_00029
Deletion	NM_000368.5(TSC1):c.587del (p.Pro196fs)	TSC1	Pathogenic	9	135797282	135797282	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA319327
Deletion	NM_000368.5(TSC1):c.590_594del (p.Cys197fs)	TSC1	Pathogenic	9	135797275	135797279	AGTTGC	A	criteria provided, single submitter	ClinGen:CA16618778
Duplication	NM_000368.5(TSC1):c.599dup (p.Ser201fs)	TSC1	Pathogenic	9	135797269	135797270	G	GA	criteria provided, single submitter	ClinGen:CA262380,Tuberous sclerosis database (TSC1):TSC1_00446
Duplication	NM_000368.5(TSC1):c.637dup (p.Leu213fs)	TSC1	Pathogenic	9	135797231	135797232	A	AG	criteria provided, single submitter	ClinGen:CA645369461
Deletion	NM_000368.5(TSC1):c.648del (p.Phe216fs)	TSC1	Pathogenic	9	135797221	135797221	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007941,Tuberous sclerosis database (TSC1):TSC1_00561
Deletion	NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)	TSC1	Pathogenic	9	135797221	135797222	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007920,Tuberous sclerosis database (TSC1):TSC1_00031
Deletion	NM_000368.5(TSC1):c.658del (p.Val220fs)	TSC1	Likely pathogenic	9	135797211	135797211	AC	A	criteria provided, single submitter	ClinGen:CA16043438
single nucleotide variant	NM_000368.5(TSC1):c.661A>T (p.Lys221Ter)	TSC1	Pathogenic	9	135797208	135797208	T	A	criteria provided, single submitter	-