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
Deletion	NM_031885.5(BBS2):c.940+1del	BBS2	Likely pathogenic	16	56536584	56536584	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.471+1G>A	BBS2	Likely pathogenic	16	56545070	56545070	C	T	criteria provided, single submitter	-
Deletion	NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)	HGSNAT	Pathogenic	8	43046657	43046657	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004183.4(BEST1):c.888C>G (p.Asn296Lys)	BEST1	Pathogenic	11	61726990	61726990	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	RPE65	Likely pathogenic	1	68905251	68905251	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000329.3(RPE65):c.361dup (p.Ser121fs)	RPE65	Pathogenic	1	68910347	68910348	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	RDH12	Pathogenic/Likely pathogenic	14	68193773	68193773	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003611.3(OFD1):c.112-2del	OFD1	Likely pathogenic	X	13754595	13754595	TA	T	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	-
single nucleotide variant	NM_003611.3(OFD1):c.344T>A (p.Ile115Asn)	OFD1	Pathogenic	X	13756996	13756996	T	A	criteria provided, single submitter	-