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.3442C>T (p.Gln1148Ter)	TSC2	Pathogenic	16	2130210	2130210	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019175,Tuberous sclerosis database (TSC2):TSC2_00210
single nucleotide variant	NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter)	TSC2	Pathogenic	16	2126129	2126129	C	A	criteria provided, single submitter	ClinGen:CA017927,Tuberous sclerosis database (TSC2):TSC2_00731
single nucleotide variant	NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)	TSC2	Pathogenic	16	2136264	2136264	T	C	criteria provided, single submitter	ClinGen:CA020960,Tuberous sclerosis database (TSC2):TSC2_00865
single nucleotide variant	NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)	TSC2	Pathogenic	16	2136293	2136293	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020985,Tuberous sclerosis database (TSC2):TSC2_00866
single nucleotide variant	NM_000548.5(TSC2):c.2742G>A (p.Lys914=)	TSC2	Pathogenic	16	2126171	2126171	G	A	criteria provided, single submitter	ClinGen:CA018006,Tuberous sclerosis database (TSC2):TSC2_00261
single nucleotide variant	NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)	TSC2	Pathogenic/Likely pathogenic	16	2121925	2121925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016643,UniProtKB:P49815#VAR_009439,Tuberous sclerosis database (TSC2):TSC2_00193
single nucleotide variant	NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)	TSC2	Pathogenic	16	2130342	2130342	C	T	criteria provided, single submitter	ClinGen:CA019287,Tuberous sclerosis database (TSC2):TSC2_00211
single nucleotide variant	NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)	TSC2	Pathogenic	16	2122338	2122338	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016897,Tuberous sclerosis database (TSC2):TSC2_00249
single nucleotide variant	NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)	TSC2	Likely pathogenic	16	2122342	2122342	T	C	criteria provided, single submitter	ClinGen:CA016906,Tuberous sclerosis database (TSC2):TSC2_00672
single nucleotide variant	NM_000548.5(TSC2):c.1444-1G>A	TSC2	Pathogenic	16	2114272	2114272	G	A	criteria provided, single submitter	ClinGen:CA014864,Tuberous sclerosis database (TSC2):TSC2_00170