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.774+2T>A	TSC2	Pathogenic	16	2106772	2106772	T	A	criteria provided, single submitter	ClinGen:CA022955,Tuberous sclerosis database (TSC2):TSC2_00121
single nucleotide variant	NM_000548.5(TSC2):c.849-1G>A	TSC2	Pathogenic/Likely pathogenic	16	2108747	2108747	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023038,Tuberous sclerosis database (TSC2):TSC2_00148
single nucleotide variant	NM_000548.5(TSC2):c.976-15G>A	TSC2	Pathogenic	16	2110656	2110656	G	A	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_00184,ClinGen:CA023219
single nucleotide variant	NM_000548.5(TSC2):c.976-1G>A	TSC2	Pathogenic	16	2110670	2110670	G	A	criteria provided, single submitter	ClinGen:CA023222,Tuberous sclerosis database (TSC2):TSC2_00123
single nucleotide variant	NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)	TSC2	Pathogenic	16	2108779	2108779	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023075,Tuberous sclerosis database (TSC2):TSC2_00715
Deletion	NM_000548.5(TSC2):c.909_928del (p.Trp304fs)	TSC2	Pathogenic	16	2108802	2108821	TGGCTCTCTGGGGAGCCCACC	T	criteria provided, single submitter	ClinGen:CA023092,Tuberous sclerosis database (TSC2):TSC2_00376
single nucleotide variant	NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)	TSC2	Pathogenic	16	2108810	2108810	G	A	criteria provided, single submitter	ClinGen:CA023109,Tuberous sclerosis database (TSC2):TSC2_00377
single nucleotide variant	NM_000548.5(TSC2):c.648+1G>A	TSC2	Pathogenic	16	2106246	2106246	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022731,Tuberous sclerosis database (TSC2):TSC2_00365
single nucleotide variant	NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)	TSC2	Pathogenic	16	2106654	2106654	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022760,Tuberous sclerosis database (TSC2):TSC2_00366
Deletion	NM_000548.5(TSC2):c.5259+1del	TSC2	Pathogenic/Likely pathogenic	16	2138325	2138325	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022312,Tuberous sclerosis database (TSC2):TSC2_00554