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
Insertion	NM_000368.5(TSC1):c.2105_2106insCT (p.Leu702fs)	TSC1	Pathogenic	9	135779140	135779141	T	TAG	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.1896del (p.Gly633fs)	TSC1	Pathogenic	9	135781069	135781069	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter)	TSC1	Pathogenic	9	135781512	135781512	C	A	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.997_998del (p.Pro333fs)	TSC1	Pathogenic	9	135786871	135786872	TGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.737+2T>C	TSC1	Pathogenic/Likely pathogenic	9	135796748	135796748	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_2055382)_(2119398_?)del	TSC2	Pathogenic	16	2105383	2169399	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.139-1G>A	TSC2	Pathogenic	16	2100400	2100400	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_2053322)_(2092208_?)del	TSC2	Pathogenic	16	2103323	2142209	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_2110651)_(2115656_?)dup	TSC2	Pathogenic	16	2110651	2115656	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2079012)_(2092208_?)del	TSC2	Pathogenic	16	2129013	2142209	na	na	criteria provided, single submitter	-