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_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)	CRB1	Pathogenic	1	197404165	197404165	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344046346
single nucleotide variant	NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)	USH2A	Pathogenic	1	215820957	215820957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344831449
single nucleotide variant	NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu)	USH2A	Likely pathogenic	1	215956262	215956262	G	A	criteria provided, single submitter	ClinGen:CA344838197
Deletion	NM_206933.4(USH2A):c.9055+1del	USH2A	Pathogenic/Likely pathogenic	1	216019165	216019165	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795593
Insertion	NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)	USH2A	Pathogenic	1	216595579	216595580	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA37922153
Deletion	NM_000440.3(PDE6A):c.1268del (p.Ser422_Leu423insTer)	PDE6A	Pathogenic	5	149278065	149278065	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796658
Deletion	NM_003611.3(OFD1):c.2076del (p.Phe692fs)	OFD1	Pathogenic	X	13778651	13778651	AT	A	criteria provided, single submitter	ClinGen:CA658799582
Duplication	NM_001029883.3(PCARE):c.1545dup (p.Ser516fs)	PCARE	Pathogenic	2	29295582	29295583	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795701
single nucleotide variant	NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)	EYS	Pathogenic	6	66044966	66044966	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3877649
single nucleotide variant	NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)	ABCA4	Pathogenic	1	94490577	94490577	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341284696