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
Duplication	NM_000548.5(TSC2):c.5160+2dup	TSC2	Pathogenic	16	2138141	2138142	G	GT	criteria provided, single submitter	ClinGen:CA021935,Tuberous sclerosis database (TSC2):TSC2_02309
Duplication	NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)	TSC2	Pathogenic	16	2134365	2134366	C	CCCTGAGCAAGTCCAGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA264455,Tuberous sclerosis database (TSC2):TSC2_02422
single nucleotide variant	NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)	TSC2	Pathogenic	16	2129583	2129583	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018873,Tuberous sclerosis database (TSC2):TSC2_02236
single nucleotide variant	NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)	TSC2	Pathogenic	16	2131608	2131608	G	A	criteria provided, single submitter	ClinGen:CA019419,Tuberous sclerosis database (TSC2):TSC2_02244
single nucleotide variant	NM_000548.5(TSC2):c.481+5G>A	TSC2	Pathogenic	16	2104446	2104446	G	A	criteria provided, single submitter	ClinGen:CA021022,Tuberous sclerosis database (TSC2):TSC2_01146
single nucleotide variant	NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter)	TSC2	Pathogenic	16	2134301	2134301	G	T	criteria provided, single submitter	ClinGen:CA019910,Tuberous sclerosis database (TSC2):TSC2_02258
single nucleotide variant	NM_000548.5(TSC2):c.3884-1G>C	TSC2	Pathogenic	16	2133695	2133695	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA019636,Tuberous sclerosis database (TSC2):TSC2_02252
single nucleotide variant	NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter)	TSC2	Pathogenic	16	2134247	2134247	C	T	criteria provided, single submitter	ClinGen:CA019843,Tuberous sclerosis database (TSC2):TSC2_02255
Duplication	NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)	TSC2	Pathogenic	16	2134369	2134370	G	GAGCAAGTCCAGCTCCTC	criteria provided, single submitter	ClinGen:CA210063,Tuberous sclerosis database (TSC2):TSC2_01191
single nucleotide variant	NM_000548.5(TSC2):c.3814+1G>C	TSC2	Likely pathogenic	16	2131800	2131800	G	C	criteria provided, single submitter	ClinGen:CA019563,Tuberous sclerosis database (TSC2):TSC2_02376