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.245G>A (p.Trp82Ter)	TSC2	Pathogenic	16	2103362	2103362	G	A	criteria provided, single submitter	ClinGen:CA017462,Tuberous sclerosis database (TSC2):TSC2_01145
Deletion	NM_000548.5(TSC2):c.4351del (p.Arg1451fs)	TSC2	Pathogenic	16	2134569	2134569	TC	T	criteria provided, single submitter	ClinGen:CA020305,Tuberous sclerosis database (TSC2):TSC2_02270
single nucleotide variant	NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)	TSC2	Likely pathogenic	16	2124376	2124376	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017563,Tuberous sclerosis database (TSC2):TSC2_01160
single nucleotide variant	NM_000548.5(TSC2):c.4006-2A>G	TSC2	Pathogenic/Likely pathogenic	16	2134227	2134227	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019821,Tuberous sclerosis database (TSC2):TSC2_02254
Deletion	NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs)	TSC2	Pathogenic	16	2131605	2131609	AGCTGG	A	criteria provided, single submitter	ClinGen:CA019391,Tuberous sclerosis database (TSC2):TSC2_02421
single nucleotide variant	NM_000548.5(TSC2):c.1840-1G>A	TSC2	Pathogenic	16	2121510	2121510	G	A	criteria provided, single submitter	ClinGen:CA015975,Tuberous sclerosis database (TSC2):TSC2_02085
Deletion	NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs)	TSC2	Pathogenic	16	2134531	2134534	ACAGT	A	criteria provided, single submitter	ClinGen:CA020229,Tuberous sclerosis database (TSC2):TSC2_00575,Tuberous sclerosis database (TSC2):TSC2_02047
Deletion	NM_000548.5(TSC2):c.45_51del (p.Lys16fs)	TSC2	Pathogenic	16	2098659	2098665	GTTTAAGA	G	criteria provided, single submitter	ClinGen:CA020645,Tuberous sclerosis database (TSC2):TSC2_02410
Deletion	NM_000548.5(TSC2):c.4375del (p.Arg1459fs)	TSC2	Pathogenic	16	2134595	2134595	GC	G	criteria provided, single submitter	ClinGen:CA020364,Tuberous sclerosis database (TSC2):TSC2_02271
single nucleotide variant	NM_000548.5(TSC2):c.975+1G>T	TSC2	Pathogenic	16	2108875	2108875	G	T	criteria provided, single submitter	ClinGen:CA023206,Tuberous sclerosis database (TSC2):TSC2_02101