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
Deletion	NM_000548.5(TSC2):c.4106_4110del (p.Arg1369fs)	TSC2	Pathogenic	16	2134327	2134331	GCCGGC	G	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.5067_5068+8del	TSC2	Likely pathogenic	16	2137941	2137950	AAGGTAGGGCC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)	TSC2	Pathogenic	16	2103363	2103363	G	A	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.1502del (p.Asp501fs)	TSC2	Pathogenic	16	2114331	2114331	GA	G	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.3189del (p.Asn1064fs)	TSC2	Pathogenic	16	2129332	2129332	TG	T	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.5393_*57del (p.Ser1798fs)	TSC2	Pathogenic	16	2138580	2138668	TCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA	T	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_2100381)_(2115656_?)dup	TSC2	Pathogenic	16	2100381	2115656	na	na	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.347del (p.Leu116fs)	TSC2	Pathogenic	16	2104305	2104305	GT	G	criteria provided, single submitter	-
Duplication	NM_000548.5(TSC2):c.683dup (p.Tyr228Ter)	TSC2	Pathogenic	16	2106678	2106679	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.2125G>T (p.Val709Phe)	TSC2	Likely pathogenic	16	2122269	2122269	G	T	criteria provided, single submitter	-