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_000548.5(TSC2):c.2354_2355insC (p.Gln785fs)	TSC2	Pathogenic	16	2122983	2122984	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter)	TSC2	Pathogenic	16	2124285	2124285	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter)	TSC2	Pathogenic	16	2126576	2126576	A	T	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.3032del (p.Ala1011fs)	TSC2	Pathogenic	16	2129098	2129098	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter)	TSC2	Pathogenic	16	2129290	2129290	G	T	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.3683del (p.Leu1228fs)	TSC2	Pathogenic	16	2131668	2131668	CT	C	criteria provided, single submitter	-
Duplication	NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs)	TSC2	Pathogenic	16	2134558	2134559	G	GCCTT	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.4830_4837del (p.Trp1610_Asp1613delinsTer)	TSC2	Pathogenic	16	2136359	2136366	CTGGCACGA	C	criteria provided, single submitter	-
Duplication	NM_000548.5(TSC2):c.5018_5042dup (p.Leu1682fs)	TSC2	Pathogenic	16	2137891	2137892	G	GTCACCCCGCTGGACTACGAGTGCAA	criteria provided, single submitter	-
single nucleotide variant	NM_000368.5(TSC1):c.2814-2A>G	TSC1	Likely pathogenic	9	135772734	135772734	T	C	criteria provided, single submitter	-