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.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
Deletion	NM_000548.5(TSC2):c.5122del (p.Leu1708fs)	TSC2	Likely pathogenic	16	2138101	2138101	AC	A	criteria provided, single submitter	ClinGen:CA021776,Tuberous sclerosis database (TSC2):TSC2_00875
single nucleotide variant	NM_000548.5(TSC2):c.478C>G (p.Leu160Val)	TSC2	Likely pathogenic	16	2104438	2104438	C	G	criteria provided, single submitter	ClinGen:CA021005,UniProtKB:P49815#VAR_009416,Tuberous sclerosis database (TSC2):TSC2_00154
single nucleotide variant	NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)	TSC2	Likely pathogenic	16	2120532	2120532	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015786,Tuberous sclerosis database (TSC2):TSC2_00420
single nucleotide variant	NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)	TSC2	Likely pathogenic	16	2114306	2114306	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA014935,Tuberous sclerosis database (TSC2):TSC2_00699
single nucleotide variant	NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)	TSC2	Likely pathogenic	16	2110780	2110780	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013704,Tuberous sclerosis database (TSC2):TSC2_01077
single nucleotide variant	NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)	TSC1	Likely pathogenic	9	135787669	135787669	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008396,Tuberous sclerosis database (TSC1):TSC1_00058
single nucleotide variant	NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)	TSC1	Likely pathogenic	9	135787670	135787670	A	C	criteria provided, single submitter	ClinGen:CA008375,Tuberous sclerosis database (TSC1):TSC1_00294
single nucleotide variant	NM_000368.5(TSC1):c.572T>A (p.Leu191His)	TSC1	Likely pathogenic	9	135797297	135797297	A	T	criteria provided, single submitter	ClinGen:CA007782,UniProtKB:Q92574#VAR_009399,Tuberous sclerosis database (TSC1):TSC1_00029
single nucleotide variant	NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)	TSC1	Likely pathogenic	9	135797300	135797300	C	G	criteria provided, single submitter	ClinGen:CA007774,Tuberous sclerosis database (TSC1):TSC1_00028