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
Deletion	NM_000368.5(TSC1):c.1250del (p.Thr417fs)	TSC1	Pathogenic	9	135785971	135785971	TG	T	criteria provided, single submitter	ClinGen:CA004530,Tuberous sclerosis database (TSC1):TSC1_00703
Duplication	NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)	TSC1	Pathogenic	9	135779139	135779140	G	GTAAC	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC1):TSC1_00515,ClinGen:CA264248
Deletion	NM_000368.5(TSC1):c.2329del (p.Ser777fs)	TSC1	Pathogenic	9	135778054	135778054	CT	C	criteria provided, single submitter	ClinGen:CA006309,Tuberous sclerosis database (TSC1):TSC1_00662
single nucleotide variant	NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)	TSC1	Pathogenic	9	135778111	135778111	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006205,Tuberous sclerosis database (TSC1):TSC1_00526
single nucleotide variant	NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)	TSC1	Pathogenic	9	135779166	135779166	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005924,Tuberous sclerosis database (TSC1):TSC1_00612
single nucleotide variant	NM_000368.5(TSC1):c.508+1G>A	TSC1	Pathogenic	9	135798734	135798734	C	T	criteria provided, single submitter	ClinGen:CA007652,Tuberous sclerosis database (TSC1):TSC1_00675
single nucleotide variant	NM_000368.5(TSC1):c.1439-1G>A	TSC1	Pathogenic/Likely pathogenic	9	135781527	135781527	C	T	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC1):TSC1_00686,ClinGen:CA004817
single nucleotide variant	NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)	TSC1	Likely pathogenic	9	135802616	135802616	A	C	criteria provided, single submitter	ClinGen:CA005458,UniProtKB:Q92574#VAR_070636,Tuberous sclerosis database (TSC1):TSC1_00494
single nucleotide variant	NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)	TSC1	Pathogenic	9	135781089	135781089	C	A	criteria provided, single submitter	ClinGen:CA005496,Tuberous sclerosis database (TSC1):TSC1_00518
single nucleotide variant	NM_000368.5(TSC1):c.211-1G>T	TSC1	Pathogenic	9	135801127	135801127	C	A	criteria provided, single submitter	ClinGen:CA006049,Tuberous sclerosis database (TSC1):TSC1_00476