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
Deletion	NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)	TSC1	Pathogenic	9	135781263	135781285	CCCGCAGGGCTTTCATCAGCACTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005156,Tuberous sclerosis database (TSC1):TSC1_00200,Tuberous sclerosis database (TSC1):TSC1_00660,OMIM:605284.0005
single nucleotide variant	NM_000368.5(TSC1):c.1141+1G>T	TSC1	Likely pathogenic	9	135786388	135786388	C	A	criteria provided, single submitter	ClinGen:CA004442,Tuberous sclerosis database (TSC1):TSC1_00654
single nucleotide variant	NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)	TSC1	Pathogenic	9	135779055	135779055	C	A	criteria provided, single submitter	ClinGen:CA006117,Tuberous sclerosis database (TSC1):TSC1_00700
Deletion	NM_000368.5(TSC1):c.648del (p.Phe216fs)	TSC1	Pathogenic	9	135797221	135797221	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007941,Tuberous sclerosis database (TSC1):TSC1_00561
single nucleotide variant	NM_000368.5(TSC1):c.2041+1G>A	TSC1	Pathogenic	9	135779797	135779797	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005819,Tuberous sclerosis database (TSC1):TSC1_00705
single nucleotide variant	NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)	TSC1	Pathogenic	9	135781206	135781206	T	A	criteria provided, single submitter	ClinGen:CA005369,Tuberous sclerosis database (TSC1):TSC1_00704
single nucleotide variant	NM_000368.5(TSC1):c.2626-1G>A	TSC1	Pathogenic/Likely pathogenic	9	135772998	135772998	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006719,Tuberous sclerosis database (TSC1):TSC1_00648
Insertion	NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs)	TSC1	Pathogenic	9	135778040	135778041	C	CTT	criteria provided, single submitter	ClinGen:CA006326,Tuberous sclerosis database (TSC1):TSC1_00707
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.2389C>T (p.Gln797Ter)	TSC1	Pathogenic	9	135777994	135777994	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006376,Tuberous sclerosis database (TSC1):TSC1_00448