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.481+1G>T	TSC2	Pathogenic	16	2104442	2104442	G	T	criteria provided, single submitter	ClinGen:CA021010,Tuberous sclerosis database (TSC2):TSC2_00353
single nucleotide variant	NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)	TSC2	Pathogenic	16	2136360	2136360	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021071,Tuberous sclerosis database (TSC2):TSC2_00614
single nucleotide variant	NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)	TSC2	Pathogenic	16	2136377	2136377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021087,Tuberous sclerosis database (TSC2):TSC2_00788
single nucleotide variant	NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr)	TSC2	Pathogenic	16	2136741	2136741	C	T	criteria provided, single submitter	ClinGen:CA021147,UniProtKB:P49815#VAR_009448,Tuberous sclerosis database (TSC2):TSC2_00285
single nucleotide variant	NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)	TSC2	Pathogenic	16	2136801	2136801	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021270,Tuberous sclerosis database (TSC2):TSC2_00598
single nucleotide variant	NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)	TSC2	Pathogenic	16	2136835	2136835	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021383,UniProtKB:P49815#VAR_009450,Tuberous sclerosis database (TSC2):TSC2_00030
single nucleotide variant	NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)	TSC2	Pathogenic	16	2137867	2137867	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021488,Tuberous sclerosis database (TSC2):TSC2_00032
single nucleotide variant	NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)	TSC2	Pathogenic	16	2137917	2137917	C	G	criteria provided, single submitter	ClinGen:CA021576,UniProtKB:P49815#VAR_009452,Tuberous sclerosis database (TSC2):TSC2_00037
single nucleotide variant	NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr)	TSC2	Pathogenic	16	2137942	2137942	G	T	criteria provided, single submitter	ClinGen:CA021630,Tuberous sclerosis database (TSC2):TSC2_00145
single nucleotide variant	NM_000548.5(TSC2):c.5069-18A>G	TSC2	Pathogenic	16	2138031	2138031	A	G	criteria provided, single submitter	ClinGen:CA021636,Tuberous sclerosis database (TSC2):TSC2_00289