結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.5160+1G>A	TSC2	Pathogenic	16	2138141	2138141	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021915,Tuberous sclerosis database (TSC2):TSC2_00648
single nucleotide variant	NM_000548.5(TSC2):c.5160+1G>T	TSC2	Pathogenic	16	2138141	2138141	G	T	criteria provided, single submitter	ClinGen:CA021925,Tuberous sclerosis database (TSC2):TSC2_00650
single nucleotide variant	NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter)	TSC2	Pathogenic	16	2137908	2137908	C	A	criteria provided, single submitter	ClinGen:CA021559,Tuberous sclerosis database (TSC2):TSC2_00632
single nucleotide variant	NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)	TSC2	Pathogenic	16	2137930	2137930	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021591,Tuberous sclerosis database (TSC2):TSC2_00636
Deletion	NM_000548.5(TSC2):c.826_827del (p.Met276fs)	TSC2	Pathogenic	16	2107157	2107158	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023003,Tuberous sclerosis database (TSC2):TSC2_00131
Duplication	NM_000548.5(TSC2):c.832dup (p.His278fs)	TSC2	Pathogenic	16	2107161	2107162	G	GC	criteria provided, single submitter	ClinGen:CA023009,Tuberous sclerosis database (TSC2):TSC2_00546
single nucleotide variant	NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)	TSC2	Pathogenic	16	2138275	2138275	C	A	criteria provided, single submitter	ClinGen:CA022148,Tuberous sclerosis database (TSC2):TSC2_00328
Deletion	NM_000548.5(TSC2):c.4925del (p.Gly1642fs)	TSC2	Pathogenic	16	2136806	2136806	TG	T	criteria provided, single submitter	ClinGen:CA021281,Tuberous sclerosis database (TSC2):TSC2_00325
single nucleotide variant	NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)	TSC2	Pathogenic/Likely pathogenic	16	2136826	2136826	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021368,Tuberous sclerosis database (TSC2):TSC2_00625
single nucleotide variant	NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)	TSC2	Likely pathogenic	16	2136314	2136314	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021000,Tuberous sclerosis database (TSC2):TSC2_00610