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.3203C>T (p.Thr1068Ile)	TSC2	Pathogenic	16	2129348	2129348	C	T	criteria provided, single submitter	ClinGen:CA018678,Tuberous sclerosis database (TSC2):TSC2_02001
Deletion	NM_000548.5(TSC2):c.2046del (p.Ser683fs)	TSC2	Pathogenic	16	2121881	2121881	TG	T	criteria provided, single submitter	ClinGen:CA016497,Tuberous sclerosis database (TSC2):TSC2_01223
Deletion	NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs)	TSC1	Pathogenic	9	135776209	135776212	GACTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006613
Deletion	NM_000548.5(TSC2):c.4415del (p.Gly1472fs)	TSC2	Pathogenic	16	2134635	2134635	AG	A	criteria provided, single submitter	ClinGen:CA020415
single nucleotide variant	NM_000548.5(TSC2):c.4919A>C (p.His1640Pro)	TSC2	Likely pathogenic	16	2136802	2136802	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021276
single nucleotide variant	NM_000548.5(TSC2):c.649-1G>C	TSC2	Pathogenic	16	2106644	2106644	G	C	criteria provided, single submitter	ClinGen:CA022736
Deletion	NM_000368.5(TSC1):c.1713del (p.Glu571fs)	TSC1	Pathogenic	9	135781252	135781252	AT	A	criteria provided, single submitter	ClinGen:CA319338
Duplication	NM_000368.5(TSC1):c.1509dup (p.Asp504Ter)	TSC1	Pathogenic	9	135781455	135781456	C	CA	criteria provided, single submitter	ClinGen:CA319337
Deletion	NM_000368.5(TSC1):c.1441del (p.Ala481fs)	TSC1	Pathogenic	9	135781524	135781524	GC	G	criteria provided, single submitter	ClinGen:CA319329
Duplication	NM_000368.5(TSC1):c.737_737+1dup	TSC1	Pathogenic	9	135796748	135796749	A	ACC	criteria provided, single submitter	ClinGen:CA319328