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.337-1G>T	TSC2	Pathogenic	16	2104296	2104296	G	T	criteria provided, single submitter	ClinGen:CA019020,Tuberous sclerosis database (TSC2):TSC2_00057
single nucleotide variant	NM_000548.5(TSC2):c.336+5G>C	TSC2	Pathogenic/Likely pathogenic	16	2103458	2103458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607137
single nucleotide variant	NM_000548.5(TSC2):c.336+2T>G	TSC2	Pathogenic	16	2103455	2103455	T	G	criteria provided, single submitter	ClinGen:CA018982,Tuberous sclerosis database (TSC2):TSC2_00349
single nucleotide variant	NM_000548.5(TSC2):c.336+1G>C	TSC2	Pathogenic	16	2103454	2103454	G	C	criteria provided, single submitter	ClinGen:CA394306095
single nucleotide variant	NM_000548.5(TSC2):c.336+1G>A	TSC2	Pathogenic	16	2103454	2103454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018966,Tuberous sclerosis database (TSC2):TSC2_00040
Deletion	NM_000548.5(TSC2):c.335_336+14del	TSC2	Likely pathogenic	16	2103448	2103463	GGGGCAGGTAAGGCCCA	G	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.329del (p.Gln110fs)	TSC2	Pathogenic	16	2103446	2103446	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.328C>T (p.Gln110Ter)	TSC2	Pathogenic	16	2103445	2103445	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620085
single nucleotide variant	NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	TSC2	Pathogenic	16	2103385	2103385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017893,Tuberous sclerosis database (TSC2):TSC2_00036
single nucleotide variant	NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)	TSC2	Pathogenic	16	2103363	2103363	G	A	criteria provided, single submitter	-