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_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	TSC2	Pathogenic	16	2126142	2126142	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017942,UniProtKB:P49815#VAR_005654,Tuberous sclerosis database (TSC2):TSC2_00110,OMIM:191092.0014
single nucleotide variant	NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)	TSC2	Pathogenic	16	2126142	2126142	C	G	criteria provided, single submitter	ClinGen:CA017936,Tuberous sclerosis database (TSC2):TSC2_00259,OMIM:191092.0015
Deletion	NM_000548.5(TSC2):c.2355+2_2355+5del	TSC2	Pathogenic	16	2122983	2122986	CAGGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017240,Tuberous sclerosis database (TSC2):TSC2_00254,Tuberous sclerosis database (TSC2):TSC2_01112,OMIM:191092.0016
single nucleotide variant	NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)	TSC2	Pathogenic	16	2112562	2112562	G	A	criteria provided, single submitter	ClinGen:CA014401,Tuberous sclerosis database (TSC2):TSC2_00393,OMIM:191092.0017
single nucleotide variant	NM_000368.5(TSC1):c.1029+1G>A	TSC1	Pathogenic	9	135786839	135786839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004316,Tuberous sclerosis database (TSC1):TSC1_00062
Deletion	NM_000368.4(TSC1):c.1030delG	TSC1	Pathogenic	9	135786500	135786500	GC	G	criteria provided, single submitter	ClinGen:CA004342,Tuberous sclerosis database (TSC1):TSC1_00210
single nucleotide variant	NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)	TSC1	Pathogenic	9	135786489	135786489	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004355,Tuberous sclerosis database (TSC1):TSC1_00334
Deletion	NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs)	TSC1	Pathogenic	9	135786416	135786429	GGGTGTGACAGATCA	G	criteria provided, single submitter	ClinGen:CA004422,Tuberous sclerosis database (TSC1):TSC1_00211
Deletion	NM_000368.5(TSC1):c.1152del (p.Gly385fs)	TSC1	Pathogenic	9	135786069	135786069	CT	C	criteria provided, single submitter	ClinGen:CA004454,Tuberous sclerosis database (TSC1):TSC1_00296
Deletion	NM_000368.5(TSC1):c.1257del (p.Arg420fs)	TSC1	Pathogenic	9	135785964	135785964	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004544,Tuberous sclerosis database (TSC1):TSC1_00079