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	NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)	TSC2	Pathogenic/Likely pathogenic	16	2131781	2131782	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA319576
single nucleotide variant	NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)	TSC2	Pathogenic/Likely pathogenic	16	2136751	2136751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021153,Tuberous sclerosis database (TSC2):TSC2_01241
single nucleotide variant	NM_000548.5(TSC2):c.2640-1G>A	TSC2	Pathogenic/Likely pathogenic	16	2126068	2126068	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017781,Tuberous sclerosis database (TSC2):TSC2_02213
single nucleotide variant	NM_000548.5(TSC2):c.226-1G>A	TSC2	Pathogenic/Likely pathogenic	16	2103342	2103342	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017118,Tuberous sclerosis database (TSC2):TSC2_02329
single nucleotide variant	NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)	TSC2	Pathogenic/Likely pathogenic	16	2108872	2108872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023195,Tuberous sclerosis database (TSC2):TSC2_02143
single nucleotide variant	NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)	TSC2	Pathogenic/Likely pathogenic	16	2129381	2129381	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018734,Tuberous sclerosis database (TSC2):TSC2_02094
single nucleotide variant	NM_000548.5(TSC2):c.849-1G>C	TSC2	Pathogenic/Likely pathogenic	16	2108747	2108747	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023041,Tuberous sclerosis database (TSC2):TSC2_02084
Duplication	NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)	TSC2	Pathogenic/Likely pathogenic	16	2134568	2134569	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA020298,Tuberous sclerosis database (TSC2):TSC2_01172
single nucleotide variant	NM_000548.5(TSC2):c.4006-2A>G	TSC2	Pathogenic/Likely pathogenic	16	2134227	2134227	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019821,Tuberous sclerosis database (TSC2):TSC2_02254
single nucleotide variant	NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	TSC2	Pathogenic/Likely pathogenic	16	2121535	2121535	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016088,Tuberous sclerosis database (TSC2):TSC2_01196