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.4290G>A (p.Trp1430Ter)	TSC2	Pathogenic	16	2134513	2134513	G	A	criteria provided, single submitter	ClinGen:CA020204,Tuberous sclerosis database (TSC2):TSC2_00574
single nucleotide variant	NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter)	TSC2	Pathogenic	16	2134578	2134578	C	A	criteria provided, single submitter	ClinGen:CA020316,Tuberous sclerosis database (TSC2):TSC2_01005
Duplication	NM_000548.5(TSC2):c.4442dup (p.Ser1482fs)	TSC2	Pathogenic	16	2134662	2134663	T	TA	criteria provided, single submitter	ClinGen:CA020476,Tuberous sclerosis database (TSC2):TSC2_00785
Deletion	NM_000548.5(TSC2):c.4504del (p.Leu1502fs)	TSC2	Pathogenic	16	2134961	2134961	TC	T	criteria provided, single submitter	ClinGen:CA020565,Tuberous sclerosis database (TSC2):TSC2_00693
single nucleotide variant	NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)	TSC2	Pathogenic	16	2134965	2134965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020569,Tuberous sclerosis database (TSC2):TSC2_00279
Deletion	NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)	TSC2	Pathogenic	16	2134999	2135002	TCAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020626,Tuberous sclerosis database (TSC2):TSC2_00019,Tuberous sclerosis database (TSC2):TSC2_00590
single nucleotide variant	NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)	TSC2	Pathogenic	16	2135234	2135234	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020707,Tuberous sclerosis database (TSC2):TSC2_00694
Deletion	NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)	TSC2	Pathogenic	16	2135314	2135316	GAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020824,Tuberous sclerosis database (TSC2):TSC2_00280
single nucleotide variant	NM_000548.5(TSC2):c.4663-1G>A	TSC2	Pathogenic	16	2136193	2136193	G	A	criteria provided, single submitter	ClinGen:CA020864,Tuberous sclerosis database (TSC2):TSC2_00601
single nucleotide variant	NM_000548.5(TSC2):c.478C>G (p.Leu160Val)	TSC2	Likely pathogenic	16	2104438	2104438	C	G	criteria provided, single submitter	ClinGen:CA021005,UniProtKB:P49815#VAR_009416,Tuberous sclerosis database (TSC2):TSC2_00154