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.3610+1G>C	TSC2	Pathogenic	16	2130379	2130379	G	C	criteria provided, single submitter	ClinGen:CA394289761
single nucleotide variant	NM_000548.5(TSC2):c.4569+2T>A	TSC2	Likely pathogenic	16	2135029	2135029	T	A	criteria provided, single submitter	ClinGen:CA394303141
Deletion	NM_000548.5(TSC2):c.3759del (p.Ser1254fs)	TSC2	Pathogenic	16	2131744	2131744	TG	T	criteria provided, single submitter	ClinGen:CA658656511
single nucleotide variant	NM_000548.5(TSC2):c.4569+2T>G	TSC2	Likely pathogenic	16	2135029	2135029	T	G	criteria provided, single submitter	ClinGen:CA394303139
single nucleotide variant	NM_000548.5(TSC2):c.1839G>C (p.Gln613His)	TSC2	Pathogenic	16	2120579	2120579	G	C	criteria provided, single submitter	ClinGen:CA394273020
Indel	NM_000548.5(TSC2):c.2086_2089delinsCG (p.Cys696fs)	TSC2	Pathogenic	16	2121924	2121927	TGCT	CG	criteria provided, single submitter	ClinGen:CA658658371
single nucleotide variant	NM_000548.5(TSC2):c.4508A>G (p.Gln1503Arg)	TSC2	Likely pathogenic	16	2134966	2134966	A	G	criteria provided, single submitter	ClinGen:CA394302741
single nucleotide variant	NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter)	TSC2	Pathogenic	16	2135232	2135232	C	G	criteria provided, single submitter	ClinGen:CA394304306
Deletion	NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer)	TSC2	Pathogenic	16	2122245	2122246	GTC	G	criteria provided, single submitter	ClinGen:CA658658373
single nucleotide variant	NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter)	TSC1	Pathogenic	9	135778003	135778003	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA375359090