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_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
Indel	NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)	TSC1	Pathogenic	9	135798837	135798848	ACACCAAGACGC	TG	criteria provided, single submitter	ClinGen:CA007540,Tuberous sclerosis database (TSC1):TSC1_00204
single nucleotide variant	NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)	TSC1	Pathogenic	9	135798798	135798798	G	A	criteria provided, single submitter	ClinGen:CA007594,Tuberous sclerosis database (TSC1):TSC1_00022
Indel	NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs)	TSC1	Pathogenic	9	135798788	135798792	AGAAG	GAAA	criteria provided, single submitter	ClinGen:CA658657929