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
Deletion	NM_000368.5(TSC1):c.2721del (p.Lys907fs)	TSC1	Pathogenic	9	135772902	135772902	GT	G	criteria provided, single submitter	-
Duplication	NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs)	TSC1	Pathogenic	9	135772906	135772907	T	TGG	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.2360del (p.Glu787fs)	TSC1	Pathogenic	9	135778023	135778023	CT	C	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.2340_2343del (p.Arg780fs)	TSC1	Pathogenic	9	135778040	135778043	GCTGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter)	TSC1	Pathogenic	9	135778141	135778141	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs)	TSC1	Pathogenic	9	135781242	135781243	A	AAGTCTGGC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter)	TSC1	Pathogenic	9	135781419	135781419	G	A	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer)	TSC1	Pathogenic	9	135786407	135786411	TTACTG	T	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.965_978del (p.Met322fs)	TSC1	Pathogenic	9	135786891	135786904	GTAGCTGCCCTGGCA	G	criteria provided, single submitter	-
Duplication	NM_000368.5(TSC1):c.871_886dup (p.Pro296fs)	TSC1	Pathogenic	9	135787695	135787696	G	GGGCTGGTGGTGACATC	criteria provided, single submitter	-