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.2440G>T (p.Glu814Ter)	TSC2	Pathogenic	16	2124285	2124285	G	T	criteria provided, single submitter	-
Insertion	NM_000548.5(TSC2):c.2354_2355insC (p.Gln785fs)	TSC2	Pathogenic	16	2122983	2122984	A	AC	criteria provided, single submitter	-
Deletion	NM_000548.3(TSC2):c.1948delG	TSC2	Pathogenic	16	2121784	2121784	AG	A	criteria provided, single submitter	-
Indel	NM_000548.5(TSC2):c.1768_1769delinsG (p.Leu590fs)	TSC2	Pathogenic	16	2120508	2120509	CT	G	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.1597_1599del (p.Lys533del)	TSC2	Pathogenic	16	2114424	2114426	GAGA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)	TSC2	Pathogenic	16	2110803	2110803	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000548.5(TSC2):c.993del (p.Asn331fs)	TSC2	Pathogenic	16	2110688	2110688	AC	A	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.645_648del (p.Ile215fs)	TSC2	Pathogenic	16	2106242	2106245	TAGAG	T	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.1458del (p.Ser487fs)	TSC2	Pathogenic	16	2114287	2114287	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.225+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2100488	2100488	G	A	criteria provided, multiple submitters, no conflicts	-