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_000368.5(TSC1):c.106+2T>C	TSC1	Likely pathogenic	9	135804152	135804152	A	G	criteria provided, single submitter	ClinGen:CA375375246
Duplication	NM_000368.5(TSC1):c.86_90dup (p.Glu31fs)	TSC1	Pathogenic	9	135804169	135804170	C	CTTTAA	criteria provided, single submitter	-
Duplication	NM_000368.5(TSC1):c.74dup (p.Thr26fs)	TSC1	Pathogenic	9	135804185	135804186	C	CA	criteria provided, single submitter	ClinGen:CA10603113
Indel	NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs)	TSC1	Pathogenic	9	135804218	135804236	CAGCATGGCAAGAAGCTCC	TTG	criteria provided, single submitter	ClinGen:CA658657932
Deletion	NC_000009.12:g.(?_132896229)_(132928878_?)del	TSC1	Pathogenic	9	135771616	135804265	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_132896215)_(132928892_?)del	TSC1	Pathogenic	9	135771602	135804279	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1	TSC1	Pathogenic	9	135771359	135821093	na	na	criteria provided, single submitter	-