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
Duplication	NM_001034853.2(RPGR):c.1187dup (p.Leu396fs)	RPGR	Pathogenic	X	38158266	38158267	T	TA	criteria provided, single submitter	ClinGen:CA645372676
single nucleotide variant	NM_003611.3(OFD1):c.1654+5G>C	OFD1	Likely pathogenic	X	13776572	13776572	G	C	criteria provided, single submitter	ClinGen:CA645372673
Deletion	NC_000001.10:g.216144119_216591855del447737	USH2A	Pathogenic	1	216144119	216591855	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_006343.3(MERTK):c.584-1G>T	MERTK	Pathogenic	2	112704970	112704970	G	T	criteria provided, single submitter	ClinGen:CA348228946
single nucleotide variant	NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	CRB1	Pathogenic/Likely pathogenic	1	197396584	197396584	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1312059
single nucleotide variant	NM_201253.3(CRB1):c.2842+5G>A	CRB1	Pathogenic/Likely pathogenic	1	197398749	197398749	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1312221
Duplication	NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)	CRB1	Pathogenic	1	197404534	197404535	T	TG	criteria provided, single submitter	ClinGen:CA645509087
single nucleotide variant	NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)	CRB1	Pathogenic	1	197404669	197404669	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1312374
single nucleotide variant	NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A	Pathogenic	1	215847677	215847677	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA37412317
Indel	NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	USH2A	Pathogenic/Likely pathogenic	1	215847906	215847918	AGAGTCCATGTTC	CAAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509092