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.5160+2T>C	TSC2	Pathogenic	16	2138142	2138142	T	C	criteria provided, single submitter	ClinGen:CA021940,Tuberous sclerosis database (TSC2):TSC2_02310
single nucleotide variant	NM_000548.5(TSC2):c.774+1G>T	TSC2	Pathogenic	16	2106771	2106771	G	T	criteria provided, single submitter	ClinGen:CA022944,Tuberous sclerosis database (TSC2):TSC2_02136
Deletion	NM_000548.5(TSC2):c.4730del (p.Gly1577fs)	TSC2	Pathogenic	16	2136259	2136259	CG	C	criteria provided, single submitter	ClinGen:CA020957,Tuberous sclerosis database (TSC2):TSC2_02288
Duplication	NM_000548.5(TSC2):c.979_980dup (p.Met327fs)	TSC2	Pathogenic	16	2110673	2110674	C	CAT	criteria provided, single submitter	ClinGen:CA023242,Tuberous sclerosis database (TSC2):TSC2_02414
single nucleotide variant	NM_000548.5(TSC2):c.4859A>G (p.His1620Arg)	TSC2	Likely pathogenic	16	2136742	2136742	A	G	criteria provided, single submitter	ClinGen:CA021150,Tuberous sclerosis database (TSC2):TSC2_02074
Deletion	NM_000548.5(TSC2):c.4316del (p.Gly1439fs)	TSC2	Pathogenic	16	2134536	2134536	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020261,Tuberous sclerosis database (TSC2):TSC2_02268
single nucleotide variant	NM_000548.5(TSC2):c.2640-1G>A	TSC2	Pathogenic/Likely pathogenic	16	2126068	2126068	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017781,Tuberous sclerosis database (TSC2):TSC2_02213
Duplication	NM_000548.5(TSC2):c.1628dup (p.Glu544fs)	TSC2	Pathogenic	16	2115543	2115544	A	AC	criteria provided, single submitter	ClinGen:CA015351,Tuberous sclerosis database (TSC2):TSC2_02415
Duplication	NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter)	TSC2	Pathogenic	16	2138091	2138092	C	CT	criteria provided, single submitter	ClinGen:CA021751,Tuberous sclerosis database (TSC2):TSC2_02423
single nucleotide variant	NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)	TSC2	Likely pathogenic	16	2138295	2138295	G	T	criteria provided, single submitter	ClinGen:CA022229,Tuberous sclerosis database (TSC2):TSC2_01180