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_000322.5(PRPH2):c.478C>T (p.Gln160Ter)	PRPH2	Likely pathogenic	6	42689595	42689595	G	A	criteria provided, single submitter	-
Duplication	NM_001142800.2(EYS):c.1211dup (p.Asn404fs)	EYS	Pathogenic/Likely pathogenic	6	66094366	66094367	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.232del (p.Cys78fs)	EYS	Pathogenic	6	66205072	66205072	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)	RP1	Pathogenic	8	55538497	55538497	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_006269.2(RP1):c.2585C>G (p.Ser862Ter)	RP1	Pathogenic	8	55539027	55539027	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004183.4(BEST1):c.936C>A (p.Asp312Glu)	BEST1	Pathogenic	11	61727038	61727038	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	RDH12	Pathogenic	14	68191854	68191854	G	T	criteria provided, single submitter	-
Deletion	NM_014249.4(NR2E3):c.481del (p.Thr161fs)	NR2E3	Pathogenic	15	72104426	72104426	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)	RPGR	Pathogenic	X	38158220	38158220	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.9056-2A>G	USH2A	Pathogenic	1	216017840	216017840	T	C	criteria provided, multiple submitters, no conflicts	-