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
copy number loss	GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1	TSC1	Pathogenic	9	135771359	135821093	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	-
Deletion	NC_000009.12:g.(?_132896229)_(132928878_?)del	TSC1	Pathogenic	9	135771616	135804265	na	na	criteria provided, single submitter	-
Indel	NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs)	TSC1	Pathogenic	9	135804218	135804236	CAGCATGGCAAGAAGCTCC	TTG	criteria provided, single submitter	ClinGen:CA658657932
Duplication	NM_000368.5(TSC1):c.74dup (p.Thr26fs)	TSC1	Pathogenic	9	135804185	135804186	C	CA	criteria provided, single submitter	ClinGen:CA10603113
Duplication	NM_000368.5(TSC1):c.86_90dup (p.Glu31fs)	TSC1	Pathogenic	9	135804169	135804170	C	CTTTAA	criteria provided, single submitter	-
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
single nucleotide variant	NM_000368.5(TSC1):c.107-1G>A	TSC1	Pathogenic	9	135802692	135802692	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618780
Deletion	NM_000368.5(TSC1):c.146del (p.Tyr49fs)	TSC1	Pathogenic	9	135802652	135802652	GT	G	criteria provided, single submitter	ClinGen:CA004893,Tuberous sclerosis database (TSC1):TSC1_00649
single nucleotide variant	NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)	TSC1	Pathogenic	9	135802635	135802635	G	A	criteria provided, single submitter	ClinGen:CA005119,Tuberous sclerosis database (TSC1):TSC1_00311