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_004183.4(BEST1):c.38G>C (p.Arg13Pro)	BEST1	Likely pathogenic	11	61719316	61719316	G	C	criteria provided, single submitter	ClinGen:CA16621619
single nucleotide variant	NM_001297.5(CNGB1):c.2794+1G>A	CNGB1	Pathogenic/Likely pathogenic	16	57937725	57937725	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8082831
Duplication	NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs)	PRPF8	Likely pathogenic	17	1554130	1554131	A	AC	criteria provided, single submitter	ClinGen:CA16621697
single nucleotide variant	NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter)	FAM161A	Pathogenic/Likely pathogenic	2	62066927	62066927	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621749
Duplication	NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs)	CERKL	Pathogenic/Likely pathogenic	2	182402944	182402945	A	ATAAAGACTGATAAGTCTTGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621784
single nucleotide variant	NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)	PDE6B	Pathogenic/Likely pathogenic	4	647902	647902	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621814
Duplication	NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)	PDE6A	Pathogenic/Likely pathogenic	5	149264094	149264095	T	TGGCATGCTCATGCTGTCGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA3504448
Deletion	NM_000440.3(PDE6A):c.1361del (p.Val454fs)	PDE6A	Likely pathogenic	5	149277972	149277972	TA	T	criteria provided, single submitter	ClinGen:CA16621828
Deletion	NM_001034853.2(RPGR):c.2887del (p.Glu963fs)	RPGR	Pathogenic/Likely pathogenic	X	38145365	38145365	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621886
Deletion	NM_001034853.2(RPGR):c.2346del (p.Lys783fs)	RPGR	Pathogenic/Likely pathogenic	X	38145906	38145906	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621887