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.1379del (p.Pro460fs)	TSC1	Pathogenic	9	135782177	135782177	TG	T	criteria provided, single submitter	ClinGen:CA004768,Tuberous sclerosis database (TSC1):TSC1_00297
Deletion	NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)	TSC1	Pathogenic	9	135782122	135782125	CTTCT	C	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC1):TSC1_00088,ClinGen:CA004788
single nucleotide variant	NM_000368.5(TSC1):c.1439-2A>G	TSC1	Likely pathogenic	9	135781528	135781528	T	C	criteria provided, single submitter	ClinGen:CA004828,Tuberous sclerosis database (TSC1):TSC1_00092
single nucleotide variant	NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	TSC1	Pathogenic	9	135781467	135781467	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004940,Tuberous sclerosis database (TSC1):TSC1_00094
single nucleotide variant	NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	TSC1	Pathogenic	9	135781440	135781440	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004986,Tuberous sclerosis database (TSC1):TSC1_00096
single nucleotide variant	NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)	TSC1	Pathogenic/Likely pathogenic	9	135781386	135781386	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005069,Tuberous sclerosis database (TSC1):TSC1_00422
Deletion	NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)	TSC1	Pathogenic	9	135781384	135781385	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005077,Tuberous sclerosis database (TSC1):TSC1_00099
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
Duplication	NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs)	TSC1	Pathogenic	9	135781262	135781263	C	CCCGCAGGGCTTTCATCAGCACTG	criteria provided, single submitter	ClinGen:CA262182,Tuberous sclerosis database (TSC1):TSC1_00101
Deletion	NM_000368.5(TSC1):c.1697del (p.Pro566fs)	TSC1	Pathogenic	9	135781268	135781268	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005216,Tuberous sclerosis database (TSC1):TSC1_00102