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
Deletion	NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)	TSC2	Pathogenic/Likely pathogenic	16	2131731	2131732	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656510
single nucleotide variant	NM_000368.5(TSC1):c.1264-1G>A	TSC1	Pathogenic/Likely pathogenic	9	135782758	135782758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA375366235
Deletion	NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)	TSC2	Pathogenic/Likely pathogenic	16	2126513	2126514	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509207
single nucleotide variant	NM_000548.5(TSC2):c.4936G>A (p.Val1646Met)	TSC2	Pathogenic/Likely pathogenic	16	2136819	2136819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620103
single nucleotide variant	NM_000368.5(TSC1):c.2208+2T>A	TSC1	Pathogenic/Likely pathogenic	9	135779036	135779036	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618767
single nucleotide variant	NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)	TSC2	Pathogenic/Likely pathogenic	16	2138235	2138235	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609418
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_000368.5(TSC1):c.1998-2A>G	TSC1	Pathogenic/Likely pathogenic	9	135779843	135779843	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042671
single nucleotide variant	NM_000548.5(TSC2):c.2640-2A>G	TSC2	Pathogenic/Likely pathogenic	16	2126067	2126067	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603300
Deletion	NM_000548.5(TSC2):c.5266del (p.Glu1756fs)	TSC2	Pathogenic/Likely pathogenic	16	2138453	2138453	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583345