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_003611.3(OFD1):c.1313C>G (p.Ser438Ter)	OFD1	Pathogenic	X	13774788	13774788	C	G	criteria provided, single submitter	-
Deletion	NM_003611.3(OFD1):c.915_916del (p.Arg306fs)	OFD1	Pathogenic	X	13767631	13767632	CAA	C	criteria provided, single submitter	-
Deletion	NM_001034853.2(RPGR):c.2384del (p.Glu795fs)	RPGR	Pathogenic/Likely pathogenic	X	38145868	38145868	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs)	OFD1	Likely pathogenic	X	13771492	13771496	CAACTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_003611.3(OFD1):c.412+1G>T	OFD1	Likely pathogenic	X	13757152	13757152	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_003611.3(OFD1):c.344T>A (p.Ile115Asn)	OFD1	Pathogenic	X	13756996	13756996	T	A	criteria provided, single submitter	-
Insertion	NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro)	OFD1	Likely pathogenic	X	13754705	13754706	T	TTAAAAGAGCTGC	criteria provided, single submitter	-
Deletion	NM_003611.3(OFD1):c.112-2del	OFD1	Likely pathogenic	X	13754595	13754595	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_006915.3(RP2):c.365G>A (p.Cys122Tyr)	RP2	Pathogenic/Likely pathogenic	X	46713173	46713173	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)	RPGR	Pathogenic/Likely pathogenic	X	38182673	38182673	C	A	criteria provided, multiple submitters, no conflicts	-