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.488_489del (p.Phe163fs)	TSC2	Pathogenic	16	2105408	2105409	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021186,Tuberous sclerosis database (TSC2):TSC2_00099
single nucleotide variant	NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)	TSC2	Pathogenic	16	2106726	2106726	T	C	criteria provided, single submitter	ClinGen:CA022889,Tuberous sclerosis database (TSC2):TSC2_01090
single nucleotide variant	NM_000548.5(TSC2):c.600-1G>A	TSC2	Pathogenic	16	2106196	2106196	G	A	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00100,ClinGen:CA022665
single nucleotide variant	NM_000548.5(TSC2):c.600-2A>G	TSC2	Likely pathogenic	16	2106195	2106195	A	G	criteria provided, single submitter	ClinGen:CA022669,Tuberous sclerosis database (TSC2):TSC2_00335
single nucleotide variant	NM_000548.5(TSC2):c.4927A>C (p.Asn1643His)	TSC2	Pathogenic	16	2136810	2136810	A	C	criteria provided, single submitter	ClinGen:CA021298,Tuberous sclerosis database (TSC2):TSC2_00619
single nucleotide variant	NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)	TSC2	Pathogenic	16	2106755	2106755	C	A	criteria provided, single submitter	ClinGen:CA022915,Tuberous sclerosis database (TSC2):TSC2_00369
single nucleotide variant	NM_000548.5(TSC2):c.774+1G>A	TSC2	Pathogenic	16	2106771	2106771	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022937,Tuberous sclerosis database (TSC2):TSC2_00805
single nucleotide variant	NM_000548.5(TSC2):c.791T>C (p.Leu264Pro)	TSC2	Likely pathogenic	16	2107122	2107122	T	C	criteria provided, single submitter	ClinGen:CA022990,Tuberous sclerosis database (TSC2):TSC2_00371
single nucleotide variant	NM_000548.5(TSC2):c.848+1G>A	TSC2	Pathogenic	16	2107180	2107180	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023022,Tuberous sclerosis database (TSC2):TSC2_00806
single nucleotide variant	NM_000548.5(TSC2):c.848+281C>T	TSC2	Pathogenic	16	2107460	2107460	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023025,Tuberous sclerosis database (TSC2):TSC2_00140