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
Duplication	NM_000548.5(TSC2):c.1160dup (p.Leu388fs)	TSC2	Pathogenic	16	2111911	2111912	C	CT	criteria provided, single submitter	ClinGen:CA10583291
single nucleotide variant	NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro)	TSC2	Pathogenic	16	2121511	2121511	G	C	criteria provided, single submitter	ClinGen:CA10583299
Indel	NM_000548.5(TSC2):c.2429_2461delinsC (p.Ile810fs)	TSC2	Pathogenic	16	2124274	2124306	TCTGCAGCGTGGAGATGCCTGACATCATCATCA	C	criteria provided, single submitter	ClinGen:CA10583308
single nucleotide variant	NM_000548.5(TSC2):c.3611-2A>G	TSC2	Likely pathogenic	16	2131594	2131594	A	G	criteria provided, single submitter	ClinGen:CA10583321
Deletion	NM_000548.5(TSC2):c.4473del (p.Val1492fs)	TSC2	Pathogenic	16	2134694	2134694	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583334
Deletion	NM_000548.5(TSC2):c.5140del (p.Gln1714fs)	TSC2	Pathogenic	16	2138119	2138119	GC	G	criteria provided, single submitter	ClinGen:CA10583343
Deletion	NM_000548.5(TSC2):c.5266del (p.Glu1756fs)	TSC2	Pathogenic/Likely pathogenic	16	2138453	2138453	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583345
copy number loss	GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1	TSC1	Pathogenic	9	135771359	135821093	na	na	criteria provided, single submitter	-
Deletion	NM_000548.3(TSC2):c.1600-?_1716+?del	TSC2	Pathogenic	16	2115520	2115636	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)	TSC1	Pathogenic	9	135776134	135776134	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588469