網膜色素変性症

小児・神経疾患

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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_206933.4(USH2A):c.8559-2A>G	USH2A	Pathogenic	1	216051224	216051224	T	C	reviewed by expert panel	ClinGen:CA262122
single nucleotide variant	NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	USH2A	Pathogenic/Likely pathogenic	1	216019240	216019240	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262123
single nucleotide variant	NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter)	USH2A	Pathogenic	1	216017735	216017735	A	C	criteria provided, single submitter	ClinGen:CA262125
Duplication	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A	Pathogenic	1	216498866	216498867	G	GTGGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA262127
single nucleotide variant	NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)	USH2A	Pathogenic	1	216011400	216011400	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262128
single nucleotide variant	NM_206933.4(USH2A):c.9371+1G>C	USH2A	Pathogenic	1	216011332	216011332	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA262130
single nucleotide variant	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A	Pathogenic/Likely pathogenic	1	215990485	215990485	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262131
single nucleotide variant	NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)	USH2A	Pathogenic	1	215990450	215990450	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262133
single nucleotide variant	NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	USH2A	Pathogenic/Likely pathogenic	1	215972408	215972408	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA262135,UniProtKB:O75445#VAR_054599
single nucleotide variant	NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)	RBP3	Pathogenic	10	48385854	48385854	C	T	criteria provided, single submitter	UniProtKB:P10745#VAR_069706,OMIM:180290.0001,ClinGen:CA344701