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.2006T>G (p.Leu669Ter)	TSC1	Pathogenic	9	135779833	135779833	A	C	criteria provided, single submitter	ClinGen:CA005764,Tuberous sclerosis database (TSC1):TSC1_00252
Deletion	NM_000368.5(TSC1):c.2023del (p.Asp675fs)	TSC1	Pathogenic	9	135779816	135779816	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005786,Tuberous sclerosis database (TSC1):TSC1_00225
single nucleotide variant	NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter)	TSC1	Pathogenic	9	135779811	135779811	C	T	criteria provided, single submitter	ClinGen:CA005793,Tuberous sclerosis database (TSC1):TSC1_00359
single nucleotide variant	NM_000368.5(TSC1):c.2041+2T>C	TSC1	Pathogenic	9	135779796	135779796	A	G	criteria provided, single submitter	ClinGen:CA005827,Tuberous sclerosis database (TSC1):TSC1_00360
single nucleotide variant	NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)	TSC1	Pathogenic	9	135779798	135779798	C	T	criteria provided, single submitter	ClinGen:CA005830,Tuberous sclerosis database (TSC1):TSC1_00433
single nucleotide variant	NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	TSC1	Pathogenic	9	135779172	135779172	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005901,Tuberous sclerosis database (TSC1):TSC1_00130
Deletion	NM_000368.5(TSC1):c.2082del (p.Gln694fs)	TSC1	Pathogenic	9	135779164	135779164	AC	A	criteria provided, single submitter	ClinGen:CA005927,Tuberous sclerosis database (TSC1):TSC1_00227
Deletion	NM_000368.5(TSC1):c.2090del (p.Leu697fs)	TSC1	Pathogenic	9	135779156	135779156	TA	T	criteria provided, single submitter	ClinGen:CA005933,Tuberous sclerosis database (TSC1):TSC1_00302
Deletion	NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs)	TSC1	Likely pathogenic	9	135779140	135779143	GTAAC	G	criteria provided, single submitter	ClinGen:CA005986,Tuberous sclerosis database (TSC1):TSC1_00132,Tuberous sclerosis database (TSC1):TSC1_00406
single nucleotide variant	NM_000368.5(TSC1):c.211-1G>A	TSC1	Pathogenic	9	135801127	135801127	C	T	criteria provided, single submitter	ClinGen:CA006045,Tuberous sclerosis database (TSC1):TSC1_00009