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
Deletion	NM_000548.5(TSC2):c.2009del (p.Pro670fs)	TSC2	Pathogenic	16	2121846	2121846	TC	T	criteria provided, single submitter	ClinGen:CA16614930
single nucleotide variant	NM_000548.5(TSC2):c.3132-1G>T	TSC2	Pathogenic	16	2129276	2129276	G	T	criteria provided, single submitter	ClinGen:CA16614971
Deletion	NC_000016.10:g.(?_2048587)_(2065635_?)del	TSC2	Pathogenic	16	2098588	2115636	na	na	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.2661_2664del (p.Cys887fs)	TSC2	Pathogenic	16	2126088	2126091	GTGTC	G	criteria provided, single submitter	ClinGen:CA16615082
single nucleotide variant	NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro)	TSC2	Likely pathogenic	16	2129347	2129347	A	C	criteria provided, single submitter	ClinGen:CA16615089
Deletion	NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs)	TSC2	Pathogenic	16	2136834	2136840	CAATGACT	C	criteria provided, single submitter	ClinGen:CA16615180
Insertion	NM_000368.5(TSC1):c.2292_2293insT (p.Gln765fs)	TSC1	Pathogenic	9	135778090	135778091	G	GA	criteria provided, single submitter	ClinGen:CA16618766
single nucleotide variant	NM_000368.5(TSC1):c.2208+2T>A	TSC1	Pathogenic/Likely pathogenic	9	135779036	135779036	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618767
Deletion	NM_000368.5(TSC1):c.1702_1703del (p.Gly568fs)	TSC1	Pathogenic	9	135781262	135781263	TCC	T	criteria provided, single submitter	ClinGen:CA16618768
Insertion	NM_000368.5(TSC1):c.1696_1697insTC (p.Pro566fs)	TSC1	Pathogenic	9	135781268	135781269	G	GGA	criteria provided, single submitter	ClinGen:CA16618769