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.4989+1G>A	TSC2	Pathogenic	16	2136873	2136873	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021454,Tuberous sclerosis database (TSC2):TSC2_00628
single nucleotide variant	NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)	TSC2	Pathogenic	16	2138294	2138294	C	T	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_00329,ClinGen:CA022213
single nucleotide variant	NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter)	TSC2	Pathogenic	16	2135281	2135281	C	A	criteria provided, single submitter	ClinGen:CA020767,Tuberous sclerosis database (TSC2):TSC2_00595
single nucleotide variant	NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)	TSC2	Pathogenic/Likely pathogenic	16	2135307	2135307	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020809,UniProtKB:P49815#VAR_005661,Tuberous sclerosis database (TSC2):TSC2_00117
single nucleotide variant	NM_000548.5(TSC2):c.4662G>A (p.Gln1554=)	TSC2	Pathogenic	16	2135323	2135323	G	A	criteria provided, single submitter	ClinGen:CA020851,Tuberous sclerosis database (TSC2):TSC2_00599
single nucleotide variant	NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)	TSC2	Pathogenic	16	2135323	2135323	G	T	criteria provided, single submitter	ClinGen:CA020857,Tuberous sclerosis database (TSC2):TSC2_00322
single nucleotide variant	NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)	TSC2	Pathogenic/Likely pathogenic	16	2134712	2134712	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020509,Tuberous sclerosis database (TSC2):TSC2_00278
single nucleotide variant	NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)	TSC2	Pathogenic	16	2134713	2134713	C	G	criteria provided, single submitter	ClinGen:CA020517,UniProtKB:P49815#VAR_009445,Tuberous sclerosis database (TSC2):TSC2_00224
single nucleotide variant	NM_000548.5(TSC2):c.4494-1G>A	TSC2	Likely pathogenic	16	2134951	2134951	G	A	criteria provided, single submitter	ClinGen:CA020543,Tuberous sclerosis database (TSC2):TSC2_01093
single nucleotide variant	NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)	TSC2	Pathogenic	16	2134361	2134361	C	T	criteria provided, single submitter	ClinGen:CA019994,Tuberous sclerosis database (TSC2):TSC2_01067