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.1806C>G (p.Tyr602Ter)	TSC2	Pathogenic	16	2120546	2120546	C	G	criteria provided, single submitter	ClinGen:CA16620089
single nucleotide variant	NM_000548.5(TSC2):c.2221-1G>A	TSC2	Pathogenic	16	2122849	2122849	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620092
Deletion	NM_000548.5(TSC2):c.3404del (p.His1135fs)	TSC2	Pathogenic	16	2130172	2130172	CA	C	criteria provided, single submitter	ClinGen:CA16620096
single nucleotide variant	NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter)	TSC2	Pathogenic	16	2133764	2133764	G	T	criteria provided, single submitter	ClinGen:CA16620099
Insertion	NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs)	TSC2	Pathogenic	16	2134322	2134323	G	GT	criteria provided, single submitter	ClinGen:CA16620100
single nucleotide variant	NM_000548.5(TSC2):c.4859A>T (p.His1620Leu)	TSC2	Likely pathogenic	16	2136742	2136742	A	T	criteria provided, single submitter	ClinGen:CA16620101
Deletion	NM_000548.5(TSC2):c.4881del (p.Lys1628fs)	TSC2	Pathogenic	16	2136763	2136763	AC	A	criteria provided, single submitter	ClinGen:CA16620102
single nucleotide variant	NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)	TSC2	Pathogenic/Likely pathogenic	16	2136819	2136819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620103
Deletion	NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del)	TSC2	Likely pathogenic	16	2138112	2138123	GTGGCCCGCCAGA	G	criteria provided, single submitter	ClinGen:CA16620104
Deletion	NM_000548.5(TSC2):c.5214del (p.Lys1739fs)	TSC2	Pathogenic	16	2138280	2138280	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620105