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_000548.5(TSC2):c.1549G>T (p.Glu517Ter)	TSC2	Pathogenic	16	2114378	2114378	G	T	criteria provided, single submitter	ClinGen:CA394326427
Duplication	NM_000548.5(TSC2):c.1609dup (p.Arg537fs)	TSC2	Pathogenic	16	2115526	2115527	G	GC	criteria provided, single submitter	ClinGen:CA658658365
Indel	NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs)	TSC2	Pathogenic	16	2134567	2134569	CTC	TT	criteria provided, single submitter	ClinGen:CA658656533
Deletion	NC_000016.9:g.(?_2098597)_(2130398_?)del	TSC2	Pathogenic	16	2098597	2130398	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2048596)_(2048773_?)del	TSC2	Pathogenic	16	2098597	2098774	na	na	criteria provided, single submitter	-
Deletion	NC_000016.9:g.(?_2100381)_(2100507_?)del	TSC2	Pathogenic	16	2100381	2100507	na	na	criteria provided, single submitter	-
Deletion	NC_000016.9:g.(?_2122222)_(2127477_?)del	TSC2	Pathogenic	16	2122222	2127477	na	na	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.1282del (p.Ser428fs)	TSC2	Pathogenic	16	2112522	2112522	CT	C	criteria provided, single submitter	ClinGen:CA658658356
Deletion	NM_000548.5(TSC2):c.136_138+1del	TSC2	Pathogenic	16	2098751	2098754	TGAGA	T	criteria provided, single submitter	ClinGen:CA658658339
single nucleotide variant	NM_000548.5(TSC2):c.1839+2T>C	TSC2	Pathogenic	16	2120581	2120581	T	C	criteria provided, single submitter	ClinGen:CA394273023