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_000548.5(TSC2):c.4919A>G (p.His1640Arg)	TSC2	Likely pathogenic	16	2136802	2136802	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000368.5(TSC1):c.769_776del (p.Ile257fs)	TSC1	Likely pathogenic	9	135787806	135787813	ACACTCGAT	A	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs)	TSC2	Pathogenic	16	2136284	2136294	GAAGGACTGCCA	G	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_132896215)_(132904474_?)del	TSC1	Pathogenic	9	135771602	135779861	na	na	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.1849del (p.His617fs)	TSC1	Pathogenic	9	135781116	135781116	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.738-1G>A	TSC1	Pathogenic	9	135787845	135787845	C	T	criteria provided, single submitter	-
Duplication	NC_000009.11:g.(?_135776102)_(135787844_?)dup	TSC1	Pathogenic	9	135776102	135787844	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2626-2A>C	TSC1	Likely pathogenic	9	135772999	135772999	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)	TSC1	Pathogenic	9	135776990	135776990	G	A	criteria provided, single submitter	-
Indel	NM_000368.5(TSC1):c.1541_1549delinsTG (p.Gly514fs)	TSC1	Pathogenic	9	135781416	135781424	GCTGAGAAC	CA	criteria provided, single submitter	-