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.337-1G>T	TSC2	Pathogenic	16	2104296	2104296	G	T	criteria provided, single submitter	ClinGen:CA019020,Tuberous sclerosis database (TSC2):TSC2_00057
single nucleotide variant	NM_000548.5(TSC2):c.3397+1G>A	TSC2	Pathogenic	16	2129671	2129671	G	A	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC2):TSC2_01062,ClinGen:CA019073
single nucleotide variant	NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)	TSC2	Pathogenic	16	2130180	2130180	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019122,Tuberous sclerosis database (TSC2):TSC2_00267
Deletion	NM_000548.5(TSC2):c.3520del (p.Arg1174fs)	TSC2	Pathogenic	16	2130286	2130286	AC	A	criteria provided, single submitter	ClinGen:CA019245,Tuberous sclerosis database (TSC2):TSC2_01127
Duplication	NM_000548.5(TSC2):c.352dup (p.Val118fs)	TSC2	Pathogenic	16	2104307	2104308	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA019247,Tuberous sclerosis database (TSC2):TSC2_00965
single nucleotide variant	NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)	TSC2	Pathogenic	16	2130300	2130300	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019253,Tuberous sclerosis database (TSC2):TSC2_00269
single nucleotide variant	NM_000548.5(TSC2):c.3610+1G>A	TSC2	Pathogenic	16	2130379	2130379	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019341,Tuberous sclerosis database (TSC2):TSC2_00526
single nucleotide variant	NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)	TSC2	Pathogenic	16	2131647	2131647	C	A	criteria provided, single submitter	ClinGen:CA019446,Tuberous sclerosis database (TSC2):TSC2_00067
single nucleotide variant	NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)	TSC2	Pathogenic	16	2131670	2131670	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019470,Tuberous sclerosis database (TSC2):TSC2_00527
Deletion	NM_000548.5(TSC2):c.4207del (p.Asp1403fs)	TSC2	Pathogenic	16	2134427	2134427	TG	T	criteria provided, single submitter	ClinGen:CA020076,Tuberous sclerosis database (TSC2):TSC2_00567