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
Indel	NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)	TSC1	Pathogenic	9	135798837	135798848	ACACCAAGACGC	TG	criteria provided, single submitter	ClinGen:CA007540,Tuberous sclerosis database (TSC1):TSC1_00204
single nucleotide variant	NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)	TSC1	Pathogenic	9	135798798	135798798	G	A	criteria provided, single submitter	ClinGen:CA007594,Tuberous sclerosis database (TSC1):TSC1_00022
Indel	NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs)	TSC1	Pathogenic	9	135798788	135798792	AGAAG	GAAA	criteria provided, single submitter	ClinGen:CA658657929
Deletion	NM_000368.5(TSC1):c.456del (p.Asp153fs)	TSC1	Likely pathogenic	9	135798787	135798787	CA	C	criteria provided, single submitter	ClinGen:CA658657928
single nucleotide variant	NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)	TSC1	Pathogenic	9	135798752	135798752	C	T	criteria provided, single submitter	ClinGen:CA007633,Tuberous sclerosis database (TSC1):TSC1_00414
single nucleotide variant	NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)	TSC1	Pathogenic	9	135798751	135798751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA375373170
single nucleotide variant	NM_000368.5(TSC1):c.508+1G>A	TSC1	Pathogenic	9	135798734	135798734	C	T	criteria provided, single submitter	ClinGen:CA007652,Tuberous sclerosis database (TSC1):TSC1_00675
single nucleotide variant	NM_000368.5(TSC1):c.508+1G>C	TSC1	Pathogenic	9	135798734	135798734	C	G	criteria provided, single submitter	ClinGen:CA007656,Tuberous sclerosis database (TSC1):TSC1_00247
single nucleotide variant	NM_000368.5(TSC1):c.509-1G>A	TSC1	Likely pathogenic	9	135797361	135797361	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.542A>C (p.His181Pro)	TSC1	Likely pathogenic	9	135797327	135797327	T	G	criteria provided, single submitter	ClinGen:CA007715,Tuberous sclerosis database (TSC1):TSC1_00701