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.496C>T (p.Gln166Ter)	TSC2	Pathogenic	16	2105417	2105417	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021413,Tuberous sclerosis database (TSC2):TSC2_00080
single nucleotide variant	NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)	TSC2	Pathogenic	16	2134478	2134478	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020121,Tuberous sclerosis database (TSC2):TSC2_00073
single nucleotide variant	NM_000548.5(TSC2):c.481+5G>T	TSC2	Pathogenic	16	2104446	2104446	G	T	criteria provided, single submitter	ClinGen:CA021024,Tuberous sclerosis database (TSC2):TSC2_00966
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.3395C>A (p.Ser1132Ter)	TSC2	Pathogenic	16	2129668	2129668	C	A	criteria provided, single submitter	ClinGen:CA019071,Tuberous sclerosis database (TSC2):TSC2_01061
Duplication	NM_000548.5(TSC2):c.4371dup (p.Pro1458fs)	TSC2	Pathogenic	16	2134592	2134593	C	CG	criteria provided, single submitter	ClinGen:CA020345,Tuberous sclerosis database (TSC2):TSC2_01004
Deletion	NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)	TSC2	Pathogenic/Likely pathogenic	16	2136352	2136354	CCTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021040,Tuberous sclerosis database (TSC2):TSC2_00612
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
Deletion	NM_000548.5(TSC2):c.4279del (p.Ser1427fs)	TSC2	Pathogenic	16	2134500	2134500	GA	G	criteria provided, single submitter	ClinGen:CA020181,Tuberous sclerosis database (TSC2):TSC2_00321
Duplication	NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter)	TSC2	Pathogenic	16	2135239	2135240	C	CT	criteria provided, single submitter	ClinGen:CA020722,Tuberous sclerosis database (TSC2):TSC2_00592