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.136A>T (p.Arg46Ter)	TSC2	Pathogenic	16	2098752	2098752	A	T	criteria provided, single submitter	ClinGen:CA014603,Tuberous sclerosis database (TSC2):TSC2_00962
Deletion	NM_000548.5(TSC2):c.136_138+1del	TSC2	Pathogenic	16	2098751	2098754	TGAGA	T	criteria provided, single submitter	ClinGen:CA658658339
Indel	NM_000548.5(TSC2):c.134_138+1delinsC	TSC2	Pathogenic	16	2098750	2098755	TGAGAG	C	criteria provided, single submitter	ClinGen:CA16042978
single nucleotide variant	NM_000548.5(TSC2):c.138+2T>C	TSC2	Pathogenic	16	2098756	2098756	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014657,Tuberous sclerosis database (TSC2):TSC2_01099
single nucleotide variant	NM_000548.5(TSC2):c.138+5G>A	TSC2	Pathogenic/Likely pathogenic	16	2098759	2098759	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014690,Tuberous sclerosis database (TSC2):TSC2_00034
Deletion	NC_000016.10:g.(?_2048596)_(2048773_?)del	TSC2	Pathogenic	16	2098597	2098774	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.139-1G>A	TSC2	Pathogenic	16	2100400	2100400	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000548.5(TSC2):c.139G>T (p.Glu47Ter)	TSC2	Pathogenic	16	2100401	2100401	G	T	criteria provided, single submitter	ClinGen:CA394303050
single nucleotide variant	NM_000548.5(TSC2):c.225+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2100488	2100488	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_2050390)_(2050496_?)del	TSC2	Pathogenic	16	2100391	2100497	na	na	criteria provided, single submitter	-