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.2423T>C (p.Leu808Ser)	TSC2	Likely pathogenic	16	2124268	2124268	T	C	criteria provided, single submitter	ClinGen:CA017395,Tuberous sclerosis database (TSC2):TSC2_00459
single nucleotide variant	NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)	TSC2	Pathogenic	16	2129410	2129410	C	T	criteria provided, single submitter	ClinGen:CA018787,Tuberous sclerosis database (TSC2):TSC2_00138
single nucleotide variant	NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser)	TSC2	Pathogenic	16	2126119	2126119	T	C	criteria provided, single submitter	ClinGen:CA017895,Tuberous sclerosis database (TSC2):TSC2_00313
Deletion	NM_000548.5(TSC2):c.21del (p.Asp8fs)	TSC2	Pathogenic	16	2098635	2098635	CA	C	criteria provided, single submitter	ClinGen:CA016919,Tuberous sclerosis database (TSC2):TSC2_01083
Deletion	NM_000548.5(TSC2):c.2525del (p.Pro842fs)	TSC2	Pathogenic	16	2124368	2124368	TC	T	criteria provided, single submitter	ClinGen:CA017553,Tuberous sclerosis database (TSC2):TSC2_00831
single nucleotide variant	NM_000548.5(TSC2):c.1717-1G>A	TSC2	Pathogenic	16	2120456	2120456	G	A	criteria provided, single submitter	ClinGen:CA015534,Tuberous sclerosis database (TSC2):TSC2_00416
Deletion	NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer)	TSC2	Pathogenic	16	2120499	2120500	GTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015668,Tuberous sclerosis database (TSC2):TSC2_01117
single nucleotide variant	NM_000548.5(TSC2):c.1790A>G (p.His597Arg)	TSC2	Pathogenic	16	2120530	2120530	A	G	criteria provided, single submitter	ClinGen:CA015754,Tuberous sclerosis database (TSC2):TSC2_00974
single nucleotide variant	NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter)	TSC2	Pathogenic	16	2121921	2121921	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016621,Tuberous sclerosis database (TSC2):TSC2_00825
single nucleotide variant	NM_000548.5(TSC2):c.1444-2A>G	TSC2	Pathogenic	16	2114271	2114271	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014879,Tuberous sclerosis database (TSC2):TSC2_00003