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
Duplication	NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)	TSC2	Likely pathogenic	16	2134535	2134536	C	CG	criteria provided, single submitter	ClinGen:CA020255,Tuberous sclerosis database (TSC2):TSC2_00577
single nucleotide variant	NM_000548.5(TSC2):c.4005+1G>T	TSC2	Pathogenic/Likely pathogenic	16	2133818	2133818	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019809,Tuberous sclerosis database (TSC2):TSC2_00555
single nucleotide variant	NM_000548.5(TSC2):c.2546-2A>G	TSC2	Pathogenic	16	2125798	2125798	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017648,Tuberous sclerosis database (TSC2):TSC2_00832
Deletion	NM_000548.5(TSC2):c.3298del (p.Val1100fs)	TSC2	Pathogenic	16	2129568	2129568	CG	C	criteria provided, single submitter	ClinGen:CA018853,Tuberous sclerosis database (TSC2):TSC2_00511
single nucleotide variant	NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)	TSC2	Pathogenic/Likely pathogenic	16	2136203	2136203	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020888,Tuberous sclerosis database (TSC2):TSC2_00334
single nucleotide variant	NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)	TSC2	Pathogenic	16	2134352	2134352	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019981,Tuberous sclerosis database (TSC2):TSC2_00559
Deletion	NM_000548.5(TSC2):c.3214del (p.Ser1072fs)	TSC2	Pathogenic	16	2129358	2129358	CA	C	criteria provided, single submitter	ClinGen:CA018695,Tuberous sclerosis database (TSC2):TSC2_00504
single nucleotide variant	NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)	TSC2	Pathogenic	16	2134397	2134397	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020033,Tuberous sclerosis database (TSC2):TSC2_00563
Deletion	NM_000548.5(TSC2):c.4223del (p.Gly1408fs)	TSC2	Pathogenic	16	2134444	2134444	TG	T	criteria provided, single submitter	ClinGen:CA020090,Tuberous sclerosis database (TSC2):TSC2_00569
single nucleotide variant	NM_000548.5(TSC2):c.2221-2A>G	TSC2	Pathogenic	16	2122848	2122848	A	G	criteria provided, single submitter	ClinGen:CA016997,Tuberous sclerosis database (TSC2):TSC2_00446