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.5228G>A (p.Arg1743Gln)	TSC2	Pathogenic/Likely pathogenic	16	2138295	2138295	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022218,UniProtKB:P49815#VAR_008031,Tuberous sclerosis database (TSC2):TSC2_00096
Deletion	NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)	TSC2	Pathogenic/Likely pathogenic	16	2136352	2136354	CCTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021040,Tuberous sclerosis database (TSC2):TSC2_00612
single nucleotide variant	NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)	TSC2	Pathogenic/Likely pathogenic	16	2136203	2136203	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020888,Tuberous sclerosis database (TSC2):TSC2_00334
single nucleotide variant	NM_000548.5(TSC2):c.4005+1G>T	TSC2	Pathogenic/Likely pathogenic	16	2133818	2133818	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019809,Tuberous sclerosis database (TSC2):TSC2_00555
single nucleotide variant	NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)	TSC2	Pathogenic/Likely pathogenic	16	2124255	2124255	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017384,Tuberous sclerosis database (TSC2):TSC2_01116
Deletion	NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)	TSC2	Pathogenic/Likely pathogenic	16	2112521	2112523	TCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014351,Tuberous sclerosis database (TSC2):TSC2_00813
single nucleotide variant	NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)	TSC2	Pathogenic/Likely pathogenic	16	2126095	2126095	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017841,Tuberous sclerosis database (TSC2):TSC2_01111
single nucleotide variant	NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)	TSC2	Pathogenic/Likely pathogenic	16	2126076	2126076	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017805,Tuberous sclerosis database (TSC2):TSC2_00913
single nucleotide variant	NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)	TSC2	Pathogenic/Likely pathogenic	16	2134712	2134712	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020509,Tuberous sclerosis database (TSC2):TSC2_00278
single nucleotide variant	NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)	TSC2	Pathogenic/Likely pathogenic	16	2135307	2135307	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020809,UniProtKB:P49815#VAR_005661,Tuberous sclerosis database (TSC2):TSC2_00117