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_000368.5(TSC1):c.749T>A (p.Leu250Ter)	TSC1	Pathogenic	9	135787833	135787833	A	T	criteria provided, single submitter	ClinGen:CA008189,Tuberous sclerosis database (TSC1):TSC1_00402,OMIM:605284.0002
single nucleotide variant	NM_000368.5(TSC1):c.671T>G (p.Met224Arg)	TSC1	Likely pathogenic	9	135796816	135796816	A	C	criteria provided, single submitter	ClinGen:CA008014,UniProtKB:Q92574#VAR_009401,Tuberous sclerosis database (TSC1):TSC1_00036,OMIM:605284.0008
single nucleotide variant	NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	TSC2	Pathogenic	16	2137898	2137898	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021526,UniProtKB:P49815#VAR_009451,Tuberous sclerosis database (TSC2):TSC2_00033,OMIM:191092.0009
single nucleotide variant	NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	TSC2	Pathogenic	16	2114342	2114342	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015026,Tuberous sclerosis database (TSC2):TSC2_00051,OMIM:191092.0005
single nucleotide variant	NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	TSC2	Pathogenic	16	2120572	2120572	G	A	criteria provided, multiple submitters, no conflicts	OMIM:191092.0006,ClinGen:CA015920,UniProtKB:P49815#VAR_005650,Tuberous sclerosis database (TSC2):TSC2_00105
single nucleotide variant	NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)	TSC2	Pathogenic	16	2113043	2113043	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014795,Tuberous sclerosis database (TSC2):TSC2_01030,OMIM:191092.0008
single nucleotide variant	NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)	TSC2	Pathogenic	16	2110791	2110791	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013758,Tuberous sclerosis database (TSC2):TSC2_00383,OMIM:191092.0010
single nucleotide variant	NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)	TSC2	Pathogenic/Likely pathogenic	16	2134966	2134966	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020573,Tuberous sclerosis database (TSC2):TSC2_00747,OMIM:191092.0011
Deletion	NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	TSC2	Pathogenic/Likely pathogenic	16	2138294	2138311	CCGGCTCCGCCACATCAAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022197,Tuberous sclerosis database (TSC2):TSC2_00149,Tuberous sclerosis database (TSC2):TSC2_00709,OMIM:191092.0012
single nucleotide variant	NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	TSC2	Pathogenic	16	2126143	2126143	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017951,UniProtKB:P49815#VAR_005653,Tuberous sclerosis database (TSC2):TSC2_00134,OMIM:191092.0013