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.5170C>T (p.Gln1724Ter)	TSC2	Pathogenic	16	2138237	2138237	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022073,Tuberous sclerosis database (TSC2):TSC2_00147
single nucleotide variant	NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)	TSC2	Likely pathogenic	16	2136266	2136266	G	A	criteria provided, single submitter	ClinGen:CA020963,Tuberous sclerosis database (TSC2):TSC2_00892
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
single nucleotide variant	NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)	TSC2	Likely pathogenic	16	2138298	2138298	T	C	criteria provided, single submitter	ClinGen:CA022245,UniProtKB:P49815#VAR_009455,Tuberous sclerosis database (TSC2):TSC2_00682
single nucleotide variant	NM_000548.5(TSC2):c.4850-1G>A	TSC2	Pathogenic	16	2136732	2136732	G	A	criteria provided, single submitter	ClinGen:CA021116,Tuberous sclerosis database (TSC2):TSC2_00284
single nucleotide variant	NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)	TSC2	Pathogenic	16	2136808	2136808	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021290,Tuberous sclerosis database (TSC2):TSC2_01110
Deletion	NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)	TSC2	Pathogenic	16	2136816	2136817	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021331,Tuberous sclerosis database (TSC2):TSC2_00068
single nucleotide variant	NM_000548.5(TSC2):c.775-1G>A	TSC2	Likely pathogenic	16	2107105	2107105	G	A	criteria provided, single submitter	ClinGen:CA022965,Tuberous sclerosis database (TSC2):TSC2_00158
single nucleotide variant	NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)	TSC2	Pathogenic	16	2134598	2134598	C	T	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_00221,ClinGen:CA020356
single nucleotide variant	NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter)	TSC2	Pathogenic	16	2134620	2134620	C	A	criteria provided, single submitter	ClinGen:CA020377,Tuberous sclerosis database (TSC2):TSC2_00714