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
Duplication	NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)	TSC1	Pathogenic	9	135797205	135797206	C	CCTTGACCACTTCT	criteria provided, single submitter	ClinGen:CA658657927
Deletion	NM_000368.5(TSC1):c.456del (p.Asp153fs)	TSC1	Likely pathogenic	9	135798787	135798787	CA	C	criteria provided, single submitter	ClinGen:CA658657928
Indel	NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs)	TSC1	Pathogenic	9	135798788	135798792	AGAAG	GAAA	criteria provided, single submitter	ClinGen:CA658657929
single nucleotide variant	NM_000368.5(TSC1):c.211-7T>G	TSC1	Likely pathogenic	9	135801133	135801133	A	C	criteria provided, single submitter	ClinGen:CA658657931
single nucleotide variant	NM_000548.5(TSC2):c.139G>T (p.Glu47Ter)	TSC2	Pathogenic	16	2100401	2100401	G	T	criteria provided, single submitter	ClinGen:CA394303050
single nucleotide variant	NM_000548.5(TSC2):c.848+2T>G	TSC2	Pathogenic	16	2107181	2107181	T	G	criteria provided, single submitter	ClinGen:CA394313618
Indel	NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA	TSC2	Pathogenic	16	2121509	2121512	AGGC	TTTTGA	criteria provided, single submitter	ClinGen:CA658658367
single nucleotide variant	NM_000548.5(TSC2):c.1946+1G>A	TSC2	Pathogenic	16	2121618	2121618	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394273426
Deletion	NM_000548.5(TSC2):c.2113del (p.Val705fs)	TSC2	Pathogenic	16	2122256	2122256	AG	A	criteria provided, single submitter	ClinGen:CA658658374
Indel	NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs)	TSC2	Pathogenic	16	2124324	2124325	GT	C	criteria provided, single submitter	ClinGen:CA658658378