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
Duplication	NC_000016.9:g.(?_2100381)_(2115656_?)dup	TSC2	Pathogenic	16	2100381	2115656	na	na	criteria provided, single submitter	-
Deletion	NC_000016.9:g.(?_2100381)_(2100507_?)del	TSC2	Pathogenic	16	2100381	2100507	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.138+5G>A	TSC2	Pathogenic/Likely pathogenic	16	2098759	2098759	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014690,Tuberous sclerosis database (TSC2):TSC2_00034
single nucleotide variant	NM_000548.5(TSC2):c.138+2T>C	TSC2	Pathogenic	16	2098756	2098756	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014657,Tuberous sclerosis database (TSC2):TSC2_01099
single nucleotide variant	NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)	TSC2	Pathogenic	16	2098752	2098752	A	T	criteria provided, single submitter	ClinGen:CA014603,Tuberous sclerosis database (TSC2):TSC2_00962
Deletion	NM_000548.5(TSC2):c.136_138+1del	TSC2	Pathogenic	16	2098751	2098754	TGAGA	T	criteria provided, single submitter	ClinGen:CA658658339
Indel	NM_000548.5(TSC2):c.134_138+1delinsC	TSC2	Pathogenic	16	2098750	2098755	TGAGAG	C	criteria provided, single submitter	ClinGen:CA16042978
Deletion	NM_000548.5(TSC2):c.133_136del (p.Leu45fs)	TSC2	Pathogenic	16	2098748	2098751	TACTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014408,Tuberous sclerosis database (TSC2):TSC2_00341
Deletion	NM_000548.5(TSC2):c.131_132del (p.Ile44fs)	TSC2	Pathogenic	16	2098746	2098747	AAT	A	criteria provided, single submitter	ClinGen:CA16620084
Deletion	NM_000548.5(TSC2):c.120del (p.Thr41fs)	TSC2	Pathogenic	16	2098736	2098736	TC	T	criteria provided, single submitter	ClinGen:CA014037,Tuberous sclerosis database (TSC2):TSC2_02108