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_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)	HGSNAT	Pathogenic	8	43024359	43024359	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)	IFT140	Pathogenic/Likely pathogenic	16	1633370	1633370	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)	HGSNAT	Pathogenic/Likely pathogenic	8	43052991	43052991	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003611.3(OFD1):c.915_916del (p.Arg306fs)	OFD1	Pathogenic	X	13767631	13767632	CAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)	OFD1	Pathogenic	X	13774788	13774788	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_003611.3(OFD1):c.312+1G>T	OFD1	Likely pathogenic	X	13754798	13754798	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)	BBS2	Likely pathogenic	16	56544783	56544783	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_004311.4(ARL3):c.445C>T (p.Arg149Cys)	ARL3	Pathogenic	10	104445629	104445629	G	A	criteria provided, single submitter	OMIM:604695.0001
single nucleotide variant	NM_201253.3(CRB1):c.70+1G>A	CRB1	Pathogenic	1	197237613	197237613	G	A	criteria provided, single submitter	-
Deletion	NM_201253.3(CRB1):c.410del (p.Pro137fs)	CRB1	Pathogenic	1	197297889	197297889	GC	G	criteria provided, single submitter	-