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.412G>T (p.Glu138Ter)	TSC2	Pathogenic	16	2104372	2104372	G	T	criteria provided, single submitter	ClinGen:CA394307095
single nucleotide variant	NM_000548.5(TSC2):c.1443+5G>C	TSC2	Likely pathogenic	16	2113059	2113059	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683908
single nucleotide variant	NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)	TSC1	Pathogenic	9	135778168	135778168	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA375360120
Duplication	NM_000368.5(TSC1):c.1533dup (p.Leu512fs)	TSC1	Pathogenic	9	135781431	135781432	G	GA	criteria provided, single submitter	ClinGen:CA658797320
Deletion	NM_000368.5(TSC1):c.1724del (p.Ser575fs)	TSC1	Pathogenic	9	135781241	135781241	AG	A	criteria provided, single submitter	ClinGen:CA658797319
Duplication	NM_000548.5(TSC2):c.3448dup (p.Leu1150fs)	TSC2	Pathogenic	16	2130214	2130215	T	TC	criteria provided, single submitter	ClinGen:CA658798467
Duplication	NM_000548.5(TSC2):c.5169dup (p.Gln1724fs)	TSC2	Pathogenic	16	2138235	2138236	C	CA	criteria provided, single submitter	ClinGen:CA658798499
Deletion	NM_000548.5(TSC2):c.5289del (p.Ser1764fs)	TSC2	Pathogenic	16	2138473	2138473	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798503
Deletion	NC_000009.12:g.(?_132896229)_(132928878_?)del	TSC1	Pathogenic	9	135771616	135804265	na	na	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.1073del (p.Pro358fs)	TSC1	Pathogenic	9	135786457	135786457	AG	A	criteria provided, single submitter	ClinGen:CA658797329