網膜芽細胞腫 - MGenReviews

網膜芽細胞腫

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_000321.3(RB1):c.2206C>T (p.Gln736Ter)	RB1	Pathogenic	13	49037966	49037966	C	T	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.2194_2197del (p.Pro732fs)	RB1	Pathogenic	13	49037954	49037957	TCCTC	T	criteria provided, single submitter	ClinGen:CA16614023
Duplication	NM_000321.3(RB1):c.2172dup (p.Val725fs)	RB1	Pathogenic	13	49037930	49037931	A	AT	criteria provided, single submitter	-
Indel	NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs)	RB1	Pathogenic	13	49037920	49037927	ATTCAAAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)	RB1	Pathogenic	13	49037924	49037924	A	T	criteria provided, single submitter	ClinGen:CA026424
single nucleotide variant	NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)	RB1	Pathogenic/Likely pathogenic	13	49037894	49037894	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026423,UniProtKB:P06400#VAR_005587,OMIM:614041.0024
Duplication	NM_000321.3(RB1):c.2131dup (p.Ile711fs)	RB1	Pathogenic	13	49037890	49037891	C	CA	criteria provided, single submitter	-
Deletion	NM_000321.3(RB1):c.2128_2132del (p.Gly710fs)	RB1	Pathogenic	13	49037886	49037890	TATGGC	T	criteria provided, single submitter	ClinGen:CA645369527
single nucleotide variant	NM_000321.3(RB1):c.2107-1G>A	RB1	Likely pathogenic	13	49037866	49037866	G	A	criteria provided, single submitter	ClinGen:CA388166993
single nucleotide variant	NM_000321.3(RB1):c.2107-2A>G	RB1	Pathogenic	13	49037865	49037865	A	G	criteria provided, single submitter	OMIM:614041.0009