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.138+2T>C	TSC2	Pathogenic	16	2098756	2098756	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014657,Tuberous sclerosis database (TSC2):TSC2_01099
single nucleotide variant	NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)	TSC2	Likely pathogenic	16	2114306	2114306	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014935,Tuberous sclerosis database (TSC2):TSC2_00699
single nucleotide variant	NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)	TSC2	Pathogenic	16	2120523	2120523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015705,Tuberous sclerosis database (TSC2):TSC2_00230
single nucleotide variant	NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)	TSC2	Likely pathogenic	16	2120532	2120532	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015786,Tuberous sclerosis database (TSC2):TSC2_00420
single nucleotide variant	NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly)	TSC2	Pathogenic	16	2120571	2120571	C	G	criteria provided, single submitter	ClinGen:CA015905,Tuberous sclerosis database (TSC2):TSC2_00423
single nucleotide variant	NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)	TSC2	Pathogenic	16	2121933	2121933	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016676,Tuberous sclerosis database (TSC2):TSC2_00437
single nucleotide variant	NM_000548.5(TSC2):c.226-2A>G	TSC2	Pathogenic	16	2103341	2103341	A	G	criteria provided, single submitter	ClinGen:CA017124,Tuberous sclerosis database (TSC2):TSC2_00798
single nucleotide variant	NM_000548.5(TSC2):c.2356-1G>A	TSC2	Pathogenic	16	2124200	2124200	G	A	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_00674,ClinGen:CA017248
single nucleotide variant	NM_000548.5(TSC2):c.2356-2A>C	TSC2	Pathogenic	16	2124199	2124199	A	C	criteria provided, single submitter	ClinGen:CA017255,Tuberous sclerosis database (TSC2):TSC2_00203
single nucleotide variant	NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)	TSC2	Pathogenic	16	2124252	2124252	C	T	criteria provided, single submitter	ClinGen:CA017379,Tuberous sclerosis database (TSC2):TSC2_00732