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.751G>T (p.Glu251Ter)	TSC1	Pathogenic	9	135787831	135787831	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA375369695
Deletion	NM_000368.5(TSC1):c.1758del (p.Pro585_Cys586insTer)	TSC1	Pathogenic	9	135781207	135781207	TA	T	criteria provided, single submitter	ClinGen:CA658797318
Duplication	NM_000368.5(TSC1):c.1301dup (p.Gln435fs)	TSC1	Pathogenic	9	135782719	135782720	T	TC	criteria provided, single submitter	ClinGen:CA658797324
single nucleotide variant	NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter)	TSC1	Pathogenic	9	135786013	135786013	G	T	criteria provided, single submitter	ClinGen:CA375366947
Deletion	NM_000368.5(TSC1):c.1130_1131del (p.Phe377fs)	TSC1	Pathogenic	9	135786399	135786400	CAA	C	criteria provided, single submitter	ClinGen:CA658797328
single nucleotide variant	NM_000368.5(TSC1):c.106+2T>C	TSC1	Likely pathogenic	9	135804152	135804152	A	G	criteria provided, single submitter	ClinGen:CA375375246
Deletion	NC_000016.10:g.(?_2048610)_(2088616_?)del	TSC2	Pathogenic	16	2098611	2138617	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2056176)_(2074415_?)del	TSC2	Pathogenic	16	2106177	2124416	na	na	criteria provided, single submitter	-
Duplication	NM_000548.5(TSC2):c.710dup (p.Leu238fs)	TSC2	Pathogenic	16	2106703	2106704	T	TC	criteria provided, single submitter	ClinGen:CA658798474
Duplication	NM_000548.5(TSC2):c.4135_4160dup (p.Ser1387_Ser1388insArgSerProTer)	TSC2	Pathogenic	16	2134356	2134357	C	CCTCGCAGCCCCTGAGCAAGTCCAGCT	criteria provided, single submitter	ClinGen:CA658798479