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.2098-2A>G	TSC2	Pathogenic	16	2122240	2122240	A	G	criteria provided, single submitter	ClinGen:CA016720,Tuberous sclerosis database (TSC2):TSC2_00438
Duplication	NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter)	TSC2	Pathogenic	16	2129163	2129164	T	TA	criteria provided, single submitter	ClinGen:CA018510,Tuberous sclerosis database (TSC2):TSC2_00493
single nucleotide variant	NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter)	TSC2	Pathogenic	16	2129165	2129165	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018520,Tuberous sclerosis database (TSC2):TSC2_00494
single nucleotide variant	NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)	TSC2	Pathogenic	16	2129165	2129165	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018525,Tuberous sclerosis database (TSC2):TSC2_01057
single nucleotide variant	NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)	TSC2	Pathogenic	16	2122252	2122252	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016778,Tuberous sclerosis database (TSC2):TSC2_00440
single nucleotide variant	NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	TSC2	Pathogenic	16	2103385	2103385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017893,Tuberous sclerosis database (TSC2):TSC2_00036
single nucleotide variant	NM_000548.5(TSC2):c.2742+1G>A	TSC2	Pathogenic	16	2126172	2126172	G	A	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00260,ClinGen:CA017990
single nucleotide variant	NM_000548.5(TSC2):c.3132-1G>A	TSC2	Pathogenic	16	2129276	2129276	G	A	criteria provided, single submitter	ClinGen:CA018616,Tuberous sclerosis database (TSC2):TSC2_00842
single nucleotide variant	NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)	TSC2	Likely pathogenic	16	2124322	2124322	T	C	criteria provided, single submitter	ClinGen:CA017496,Tuberous sclerosis database (TSC2):TSC2_00884
single nucleotide variant	NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	TSC2	Pathogenic	16	2130366	2130366	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019313,UniProtKB:P49815#VAR_005656,Tuberous sclerosis database (TSC2):TSC2_00056