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.4509G>T (p.Gln1503His)	TSC2	Likely pathogenic	16	2134967	2134967	G	T	criteria provided, single submitter	ClinGen:CA020576,Tuberous sclerosis database (TSC2):TSC2_00861
Deletion	NM_000548.5(TSC2):c.4537del (p.Glu1513fs)	TSC2	Pathogenic	16	2134995	2134995	CG	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00862,ClinGen:CA020622
single nucleotide variant	NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter)	TSC2	Pathogenic	16	2134521	2134521	C	A	criteria provided, single submitter	ClinGen:CA020214,Tuberous sclerosis database (TSC2):TSC2_00219
single nucleotide variant	NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)	TSC2	Likely pathogenic	16	2136243	2136243	A	G	criteria provided, single submitter	ClinGen:CA020940,Tuberous sclerosis database (TSC2):TSC2_00607
single nucleotide variant	NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)	TSC2	Pathogenic	16	2134541	2134541	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020269,Tuberous sclerosis database (TSC2):TSC2_00860
single nucleotide variant	NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)	TSC2	Likely pathogenic	16	2130378	2130378	G	A	criteria provided, single submitter	ClinGen:CA019365,Tuberous sclerosis database (TSC2):TSC2_00523
Deletion	NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs)	TSC2	Pathogenic	16	2131648	2131649	CGG	C	criteria provided, single submitter	ClinGen:CA019450,Tuberous sclerosis database (TSC2):TSC2_00852
Deletion	NM_000548.5(TSC2):c.3669del (p.Asn1224fs)	TSC2	Pathogenic	16	2131654	2131654	TC	T	criteria provided, single submitter	ClinGen:CA019459,Tuberous sclerosis database (TSC2):TSC2_00956
Duplication	NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)	TSC2	Pathogenic	16	2131680	2131681	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA019484,Tuberous sclerosis database (TSC2):TSC2_00783
single nucleotide variant	NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter)	TSC2	Pathogenic	16	2131735	2131735	C	A	criteria provided, single submitter	ClinGen:CA019518,Tuberous sclerosis database (TSC2):TSC2_00987