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.2539del (p.Leu847fs)	TSC2	Pathogenic	16	2124383	2124383	TC	T	criteria provided, single submitter	ClinGen:CA017584,Tuberous sclerosis database (TSC2):TSC2_00776
single nucleotide variant	NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter)	TSC2	Pathogenic	16	2126090	2126090	T	A	criteria provided, single submitter	ClinGen:CA017829,Tuberous sclerosis database (TSC2):TSC2_00109
Deletion	NM_000548.5(TSC2):c.2733del (p.Phe911fs)	TSC2	Pathogenic	16	2126162	2126162	TC	T	criteria provided, single submitter	ClinGen:CA017973,Tuberous sclerosis database (TSC2):TSC2_01055
single nucleotide variant	NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)	TSC2	Pathogenic	16	2129040	2129040	C	T	criteria provided, single submitter	ClinGen:CA018343,Tuberous sclerosis database (TSC2):TSC2_00137
single nucleotide variant	NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)	TSC2	Pathogenic	16	2129160	2129160	C	T	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_00492,ClinGen:CA018490
single nucleotide variant	NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)	TSC2	Pathogenic/Likely pathogenic	16	2129161	2129161	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018497,Tuberous sclerosis database (TSC2):TSC2_00739
single nucleotide variant	NM_000548.5(TSC2):c.3131+1G>A	TSC2	Pathogenic	16	2129198	2129198	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018580,Tuberous sclerosis database (TSC2):TSC2_00722
single nucleotide variant	NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)	TSC2	Pathogenic	16	2129357	2129357	C	G	criteria provided, single submitter	ClinGen:CA018689,Tuberous sclerosis database (TSC2):TSC2_00503
Deletion	NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs)	TSC2	Pathogenic	16	2129582	2129583	GAC	G	criteria provided, single submitter	ClinGen:CA018864,Tuberous sclerosis database (TSC2):TSC2_01087
single nucleotide variant	NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)	TSC2	Pathogenic	16	2129616	2129616	C	T	criteria provided, single submitter	ClinGen:CA018915,Tuberous sclerosis database (TSC2):TSC2_01059