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
Duplication	NM_000368.5(TSC1):c.276dup (p.Leu93fs)	TSC1	Pathogenic	9	135801060	135801061	G	GT	criteria provided, single submitter	ClinGen:CA262319,Tuberous sclerosis database (TSC1):TSC1_00202
single nucleotide variant	NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)	TSC1	Pathogenic	9	135801029	135801029	C	T	criteria provided, single submitter	ClinGen:CA007151,Tuberous sclerosis database (TSC1):TSC1_00014
single nucleotide variant	NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)	TSC1	Pathogenic	9	135801028	135801028	C	T	criteria provided, single submitter	ClinGen:CA007158,Tuberous sclerosis database (TSC1):TSC1_00015
single nucleotide variant	NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)	TSC1	Pathogenic	9	135801012	135801012	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007276,Tuberous sclerosis database (TSC1):TSC1_00522
single nucleotide variant	NM_000368.5(TSC1):c.362A>T (p.Lys121Met)	TSC1	Likely pathogenic	9	135800975	135800975	T	A	criteria provided, single submitter	ClinGen:CA16612651
single nucleotide variant	NM_000368.5(TSC1):c.363+1G>T	TSC1	Likely pathogenic	9	135800973	135800973	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007434,Tuberous sclerosis database (TSC1):TSC1_00018
single nucleotide variant	NM_000368.5(TSC1):c.363+1G>A	TSC1	Likely pathogenic	9	135800973	135800973	C	T	criteria provided, single submitter	ClinGen:CA007428,Tuberous sclerosis database (TSC1):TSC1_00396
single nucleotide variant	NM_000368.5(TSC1):c.364-1G>C	TSC1	Pathogenic	9	135798880	135798880	C	G	criteria provided, single submitter	ClinGen:CA007466,Tuberous sclerosis database (TSC1):TSC1_00020
Deletion	NM_000368.5(TSC1):c.381_383del (p.Val128del)	TSC1	Likely pathogenic	9	135798860	135798862	GACA	G	criteria provided, single submitter	Tuberous sclerosis database (TSC1):TSC1_00410,Tuberous sclerosis database (TSC1):TSC1_00244,ClinGen:CA007485
Indel	NM_000368.5(TSC1):c.389_390delinsT (p.Thr130fs)	TSC1	Pathogenic	9	135798853	135798854	TG	A	criteria provided, single submitter	ClinGen:CA645369415