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.211-2A>C	TSC1	Pathogenic	9	135801128	135801128	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006053,Tuberous sclerosis database (TSC1):TSC1_00243
Deletion	NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)	TSC1	Pathogenic	9	135779134	135779135	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006036,Tuberous sclerosis database (TSC1):TSC1_00136
single nucleotide variant	NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)	TSC1	Pathogenic	9	135779134	135779134	A	T	criteria provided, single submitter	ClinGen:CA006056,Tuberous sclerosis database (TSC1):TSC1_00137
single nucleotide variant	NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)	TSC1	Pathogenic	9	135779115	135779115	G	A	criteria provided, single submitter	ClinGen:CA006063,Tuberous sclerosis database (TSC1):TSC1_00138
Deletion	NM_000368.5(TSC1):c.2145del (p.Asn716fs)	TSC1	Pathogenic	9	135779101	135779101	TC	T	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC1):TSC1_00140,ClinGen:CA006079
single nucleotide variant	NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)	TSC1	Pathogenic	9	135778156	135778156	G	A	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC1):TSC1_00145,ClinGen:CA006160
single nucleotide variant	NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)	TSC1	Pathogenic	9	135778134	135778134	C	T	criteria provided, single submitter	ClinGen:CA006178,Tuberous sclerosis database (TSC1):TSC1_00228
single nucleotide variant	NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)	TSC1	Pathogenic	9	135778133	135778133	C	T	criteria provided, single submitter	ClinGen:CA006184,Tuberous sclerosis database (TSC1):TSC1_00146
single nucleotide variant	NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)	TSC1	Pathogenic	9	135778100	135778100	G	T	criteria provided, single submitter	ClinGen:CA006227,Tuberous sclerosis database (TSC1):TSC1_00261
single nucleotide variant	NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)	TSC1	Pathogenic	9	135778096	135778096	G	A	criteria provided, single submitter	ClinGen:CA006248,Tuberous sclerosis database (TSC1):TSC1_00305