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_000548.5(TSC2):c.3738dup (p.Thr1247fs)	TSC2	Pathogenic	16	2131722	2131723	A	AC	criteria provided, single submitter	ClinGen:CA319577
Deletion	NM_000548.5(TSC2):c.3739del (p.Thr1247fs)	TSC2	Pathogenic	16	2131724	2131724	CA	C	criteria provided, single submitter	ClinGen:CA319607
Duplication	NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)	TSC2	Pathogenic/Likely pathogenic	16	2131781	2131782	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA319576
Deletion	NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs)	TSC2	Pathogenic	16	2132461	2132473	CAGTCCAGCTGCCA	C	criteria provided, single submitter	ClinGen:CA319608
Deletion	NM_000548.5(TSC2):c.4662+2_4662+6del	TSC2	Pathogenic	16	2135322	2135326	CAGGTG	C	criteria provided, single submitter	ClinGen:CA319610
Deletion	NM_000548.5(TSC2):c.5262del (p.Cys1755fs)	TSC2	Pathogenic	16	2138449	2138449	TC	T	criteria provided, single submitter	ClinGen:CA319578
Deletion	NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)	TSC1	Pathogenic	9	135772947	135772948	TTC	T	criteria provided, single submitter	ClinGen:CA006852,Tuberous sclerosis database (TSC1):TSC1_00179
Duplication	NM_000548.5(TSC2):c.45dup (p.Lys16Ter)	TSC2	Pathogenic	16	2098658	2098659	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279123
single nucleotide variant	NM_000368.5(TSC1):c.1998-1G>T	TSC1	Pathogenic	9	135779842	135779842	C	A	criteria provided, single submitter	ClinGen:CA10582626
Deletion	NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs)	TSC1	Pathogenic	9	135781434	135781435	CTG	C	criteria provided, single submitter	ClinGen:CA004999,Tuberous sclerosis database (TSC1):TSC1_00097