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_000368.5(TSC1):c.542A>C (p.His181Pro)	TSC1	Likely pathogenic	9	135797327	135797327	T	G	criteria provided, single submitter	ClinGen:CA007715,Tuberous sclerosis database (TSC1):TSC1_00701
Deletion	NM_000368.5(TSC1):c.2582del (p.Leu861fs)	TSC1	Pathogenic	9	135776145	135776145	GA	G	criteria provided, single submitter	ClinGen:CA006685,Tuberous sclerosis database (TSC1):TSC1_00709
single nucleotide variant	NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)	TSC1	Pathogenic	9	135787716	135787716	G	C	criteria provided, single submitter	ClinGen:CA008332,Tuberous sclerosis database (TSC1):TSC1_00565
Deletion	NM_000368.5(TSC1):c.989del (p.Leu330fs)	TSC1	Pathogenic	9	135786880	135786880	CA	C	criteria provided, single submitter	ClinGen:CA008509,Tuberous sclerosis database (TSC1):TSC1_00702
single nucleotide variant	NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)	TSC1	Pathogenic	9	135772925	135772925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006903,Tuberous sclerosis database (TSC1):TSC1_00520
single nucleotide variant	NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)	TSC1	Pathogenic	9	135779118	135779118	G	A	criteria provided, single submitter	ClinGen:CA006060,Tuberous sclerosis database (TSC1):TSC1_00699
Deletion	NM_000368.5(TSC1):c.2672del (p.Asn891fs)	TSC1	Pathogenic	9	135772951	135772951	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006842,Tuberous sclerosis database (TSC1):TSC1_00465
single nucleotide variant	NM_000368.5(TSC1):c.737+1G>T	TSC1	Pathogenic/Likely pathogenic	9	135796749	135796749	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008101,Tuberous sclerosis database (TSC1):TSC1_00493
single nucleotide variant	NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)	TSC1	Pathogenic	9	135772847	135772847	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006974,Tuberous sclerosis database (TSC1):TSC1_00483
single nucleotide variant	NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter)	TSC2	Pathogenic	16	2136344	2136344	C	T	criteria provided, single submitter	ClinGen:CA021019,Tuberous sclerosis database (TSC2):TSC2_01207