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.3610G>A (p.Gly1204Arg)	TSC2	Likely pathogenic	16	2130378	2130378	G	A	criteria provided, single submitter	ClinGen:CA019365,Tuberous sclerosis database (TSC2):TSC2_00523
single nucleotide variant	NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)	TSC2	Likely pathogenic	16	2124268	2124268	T	C	criteria provided, single submitter	ClinGen:CA017395,Tuberous sclerosis database (TSC2):TSC2_00459
Deletion	NM_000548.5(TSC2):c.1491del (p.Glu498fs)	TSC2	Likely pathogenic	16	2114317	2114317	TC	T	criteria provided, single submitter	ClinGen:CA014961,Tuberous sclerosis database (TSC2):TSC2_00171
single nucleotide variant	NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro)	TSC2	Likely pathogenic	16	2124322	2124322	T	C	criteria provided, single submitter	ClinGen:CA017496,Tuberous sclerosis database (TSC2):TSC2_00884
Duplication	NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)	TSC2	Likely pathogenic	16	2134535	2134536	C	CG	criteria provided, single submitter	ClinGen:CA020255,Tuberous sclerosis database (TSC2):TSC2_00577
single nucleotide variant	NM_000548.5(TSC2):c.482-1G>C	TSC2	Likely pathogenic	16	2105402	2105402	G	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00968,ClinGen:CA021029
single nucleotide variant	NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)	TSC2	Likely pathogenic	16	2138294	2138294	C	G	criteria provided, single submitter	ClinGen:CA022207,Tuberous sclerosis database (TSC2):TSC2_00660
single nucleotide variant	NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)	TSC2	Likely pathogenic	16	2129146	2129146	T	C	criteria provided, single submitter	Tuberous sclerosis database (TSC2):TSC2_00723,ClinGen:CA018468,UniProtKB:P49815#VAR_022919
single nucleotide variant	NM_000548.5(TSC2):c.599+2T>G	TSC2	Likely pathogenic	16	2105522	2105522	T	G	criteria provided, single submitter	ClinGen:CA022631,Tuberous sclerosis database (TSC2):TSC2_00897
single nucleotide variant	NM_000548.5(TSC2):c.600-2A>G	TSC2	Likely pathogenic	16	2106195	2106195	A	G	criteria provided, single submitter	ClinGen:CA022669,Tuberous sclerosis database (TSC2):TSC2_00335