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.1491del (p.Glu498fs)	TSC2	Likely pathogenic	16	2114317	2114317	TC	T	criteria provided, single submitter	ClinGen:CA014961,Tuberous sclerosis database (TSC2):TSC2_00171
single nucleotide variant	NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)	TSC2	Pathogenic	16	2114321	2114321	G	T	criteria provided, single submitter	ClinGen:CA014978,Tuberous sclerosis database (TSC2):TSC2_00407
single nucleotide variant	NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)	TSC2	Pathogenic	16	2120571	2120571	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015914,UniProtKB:P49815#VAR_005651,Tuberous sclerosis database (TSC2):TSC2_00053
Deletion	NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)	TSC2	Pathogenic/Likely pathogenic	16	2112521	2112523	TCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014351,Tuberous sclerosis database (TSC2):TSC2_00813
single nucleotide variant	NM_000548.5(TSC2):c.1599+1G>A	TSC2	Pathogenic	16	2114429	2114429	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015195,Tuberous sclerosis database (TSC2):TSC2_00817
single nucleotide variant	NM_000548.5(TSC2):c.1599+2T>C	TSC2	Pathogenic	16	2114430	2114430	T	C	criteria provided, single submitter	ClinGen:CA015210,Tuberous sclerosis database (TSC2):TSC2_00770
Duplication	NM_000548.5(TSC2):c.2090dup (p.Leu697fs)	TSC2	Pathogenic	16	2121926	2121927	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA016661,Tuberous sclerosis database (TSC2):TSC2_00311
single nucleotide variant	NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter)	TSC2	Pathogenic	16	2112588	2112588	G	T	criteria provided, single submitter	ClinGen:CA014477,Tuberous sclerosis database (TSC2):TSC2_00128
single nucleotide variant	NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)	TSC2	Pathogenic	16	2110755	2110755	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013658,Tuberous sclerosis database (TSC2):TSC2_00768
single nucleotide variant	NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)	TSC2	Pathogenic	16	2111962	2111962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014047,Tuberous sclerosis database (TSC2):TSC2_00387