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_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_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)	USH2A	Pathogenic/Likely pathogenic	1	215853634	215853634	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.2384del (p.Glu795fs)	RPGR	Pathogenic/Likely pathogenic	X	38145868	38145868	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)	EYS	Pathogenic/Likely pathogenic	6	65098611	65098611	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	USH2A	Pathogenic/Likely pathogenic	1	216166445	216166445	G	A	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	-
single nucleotide variant	NM_031885.5(BBS2):c.941-2A>C	BBS2	Pathogenic/Likely pathogenic	16	56536370	56536370	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_031885.5(BBS2):c.627_628del (p.Cys210fs)	BBS2	Pathogenic/Likely pathogenic	16	56540121	56540122	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.717+1G>A	BBS2	Pathogenic/Likely pathogenic	16	56540031	56540031	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	BBS2	Pathogenic/Likely pathogenic	16	56531672	56531672	G	A	criteria provided, multiple submitters, no conflicts	-