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.569G>C (p.Arg190Pro)	TSC1	Likely pathogenic	9	135797300	135797300	C	G	criteria provided, single submitter	ClinGen:CA007774,Tuberous sclerosis database (TSC1):TSC1_00028
single nucleotide variant	NM_000368.5(TSC1):c.572T>A (p.Leu191His)	TSC1	Likely pathogenic	9	135797297	135797297	A	T	criteria provided, single submitter	ClinGen:CA007782,UniProtKB:Q92574#VAR_009399,Tuberous sclerosis database (TSC1):TSC1_00029
single nucleotide variant	NM_000368.5(TSC1):c.572T>G (p.Leu191Arg)	TSC1	Pathogenic	9	135797297	135797297	A	C	criteria provided, single submitter	ClinGen:CA007790,Tuberous sclerosis database (TSC1):TSC1_00248
Duplication	NM_000368.5(TSC1):c.599dup (p.Ser201fs)	TSC1	Pathogenic	9	135797269	135797270	G	GA	criteria provided, single submitter	ClinGen:CA262380,Tuberous sclerosis database (TSC1):TSC1_00446
Deletion	NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)	TSC1	Pathogenic	9	135797221	135797222	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007920,Tuberous sclerosis database (TSC1):TSC1_00031
single nucleotide variant	NM_000368.5(TSC1):c.663+1G>A	TSC1	Pathogenic/Likely pathogenic	9	135797205	135797205	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007957,Tuberous sclerosis database (TSC1):TSC1_00323
single nucleotide variant	NM_000368.5(TSC1):c.664-15A>G	TSC1	Pathogenic/Likely pathogenic	9	135796838	135796838	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007987,Tuberous sclerosis database (TSC1):TSC1_00035
single nucleotide variant	NM_000368.5(TSC1):c.664-1G>A	TSC1	Pathogenic/Likely pathogenic	9	135796824	135796824	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007993,Tuberous sclerosis database (TSC1):TSC1_00324
single nucleotide variant	NM_000368.5(TSC1):c.664-1G>C	TSC1	Pathogenic	9	135796824	135796824	C	G	criteria provided, single submitter	ClinGen:CA007999,Tuberous sclerosis database (TSC1):TSC1_00417
single nucleotide variant	NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)	TSC1	Pathogenic	9	135796805	135796805	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008021,Tuberous sclerosis database (TSC1):TSC1_00037