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.1875_1876del (p.Leu626fs)	TSC2	Pathogenic	16	2121545	2121546	TCA	T	criteria provided, single submitter	ClinGen:CA016116,Tuberous sclerosis database (TSC2):TSC2_02188
single nucleotide variant	NM_000548.5(TSC2):c.2742+5G>A	TSC2	Pathogenic	16	2126176	2126176	G	A	criteria provided, single submitter	ClinGen:CA018002,Tuberous sclerosis database (TSC2):TSC2_02218
Deletion	NM_000548.5(TSC2):c.120del (p.Thr41fs)	TSC2	Pathogenic	16	2098736	2098736	TC	T	criteria provided, single submitter	ClinGen:CA014037,Tuberous sclerosis database (TSC2):TSC2_02108
single nucleotide variant	NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)	TSC2	Pathogenic/Likely pathogenic	16	2129381	2129381	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018734,Tuberous sclerosis database (TSC2):TSC2_02094
single nucleotide variant	NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)	TSC2	Pathogenic/Likely pathogenic	16	2108872	2108872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023195,Tuberous sclerosis database (TSC2):TSC2_02143
Duplication	NM_000548.5(TSC2):c.4935dup (p.Val1646fs)	TSC2	Pathogenic	16	2136815	2136816	C	CT	criteria provided, single submitter	ClinGen:CA021342,Tuberous sclerosis database (TSC2):TSC2_02396
Duplication	NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs)	TSC2	Pathogenic	16	2129363	2129364	T	TGGGAACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA018724,Tuberous sclerosis database (TSC2):TSC2_01166
single nucleotide variant	NM_000548.5(TSC2):c.226-1G>A	TSC2	Pathogenic/Likely pathogenic	16	2103342	2103342	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017118,Tuberous sclerosis database (TSC2):TSC2_02329
Deletion	NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs)	TSC2	Pathogenic	16	2115527	2115539	GCCCGCTCCCTCTC	G	criteria provided, single submitter	ClinGen:CA015309,Tuberous sclerosis database (TSC2):TSC2_02173
single nucleotide variant	NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)	TSC2	Pathogenic	16	2136840	2136840	T	C	criteria provided, single submitter	ClinGen:CA021390,Tuberous sclerosis database (TSC2):TSC2_02075