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.913G>A (p.Gly305Arg)	TSC1	Likely pathogenic	9	135787669	135787669	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008396,Tuberous sclerosis database (TSC1):TSC1_00058
single nucleotide variant	NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)	TSC1	Pathogenic	9	135786896	135786896	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008473,Tuberous sclerosis database (TSC1):TSC1_00206
Deletion	NM_000368.5(TSC1):c.989_990del (p.Leu330fs)	TSC1	Pathogenic	9	135786879	135786880	TCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008496,Tuberous sclerosis database (TSC1):TSC1_00208
Duplication	NM_000368.5(TSC1):c.989dup (p.Ser331fs)	TSC1	Pathogenic	9	135786879	135786880	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA262437,Tuberous sclerosis database (TSC1):TSC1_00067
single nucleotide variant	NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)	TSC2	Likely pathogenic	16	2110780	2110780	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013704,Tuberous sclerosis database (TSC2):TSC2_01077
single nucleotide variant	NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)	TSC2	Pathogenic	16	2110806	2110806	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013813,Tuberous sclerosis database (TSC2):TSC2_00308
Deletion	NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del)	TSC2	Pathogenic	16	2111964	2111984	AGGAGAGATACTTTGAACTGGT	A	criteria provided, single submitter	ClinGen:CA014075,Tuberous sclerosis database (TSC2):TSC2_00309
Deletion	NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)	TSC2	Pathogenic	16	2111976	2111980	TTGAAC	T	criteria provided, single submitter	ClinGen:CA014105,Tuberous sclerosis database (TSC2):TSC2_00769
Deletion	NM_000548.5(TSC2):c.133_136del (p.Leu45fs)	TSC2	Pathogenic	16	2098748	2098751	TACTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014408,Tuberous sclerosis database (TSC2):TSC2_00341
single nucleotide variant	NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	TSC2	Pathogenic	16	2112983	2112983	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014613,Tuberous sclerosis database (TSC2):TSC2_00070