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.232G>T (p.Glu78Ter)	TSC1	Likely pathogenic	9	135801105	135801105	C	A	criteria provided, single submitter	-
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
single nucleotide variant	NM_000368.5(TSC1):c.211-1G>T	TSC1	Pathogenic	9	135801127	135801127	C	A	criteria provided, single submitter	ClinGen:CA006049,Tuberous sclerosis database (TSC1):TSC1_00476
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
single nucleotide variant	NM_000368.5(TSC1):c.211-7T>G	TSC1	Likely pathogenic	9	135801133	135801133	A	C	criteria provided, single submitter	ClinGen:CA658657931
single nucleotide variant	NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)	TSC1	Pathogenic	9	135802616	135802616	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005453,Tuberous sclerosis database (TSC1):TSC1_00007
single nucleotide variant	NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)	TSC1	Likely pathogenic	9	135802616	135802616	A	C	criteria provided, single submitter	ClinGen:CA005458,UniProtKB:Q92574#VAR_070636,Tuberous sclerosis database (TSC1):TSC1_00494
single nucleotide variant	NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)	TSC1	Pathogenic	9	135802635	135802635	G	A	criteria provided, single submitter	ClinGen:CA005119,Tuberous sclerosis database (TSC1):TSC1_00311
Deletion	NM_000368.5(TSC1):c.146del (p.Tyr49fs)	TSC1	Pathogenic	9	135802652	135802652	GT	G	criteria provided, single submitter	ClinGen:CA004893,Tuberous sclerosis database (TSC1):TSC1_00649
single nucleotide variant	NM_000368.5(TSC1):c.107-1G>A	TSC1	Pathogenic	9	135802692	135802692	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618780