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.2227G>C (p.Val743Leu)	CRB1	Likely pathogenic	1	197396682	197396682	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279025
single nucleotide variant	NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)	USH2A	Pathogenic/Likely pathogenic	1	215972380	215972380	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279037
single nucleotide variant	NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)	MERTK	Likely pathogenic	2	112779001	112779001	T	C	criteria provided, single submitter	ClinGen:CA278959
single nucleotide variant	NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)	CNGA1	Pathogenic	4	47942792	47942792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351306,ClinVar:424770
single nucleotide variant	NM_003611.3(OFD1):c.277G>T (p.Val93Phe)	OFD1	Pathogenic	X	13754762	13754762	G	T	criteria provided, single submitter	ClinGen:CA279491
single nucleotide variant	NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	OFD1	Pathogenic	X	13785314	13785314	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279372
single nucleotide variant	NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)	PDE6B	Pathogenic/Likely pathogenic	4	655986	655986	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277821,OMIM:180072.0008
single nucleotide variant	NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	USH2A	Likely pathogenic	1	216173784	216173784	G	T	reviewed by expert panel	ClinGen:CA354063
Indel	NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)	USH2A	Pathogenic	1	216246601	216246601	C	ATGCCAAGTTAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA354057
single nucleotide variant	NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)	USH2A	Pathogenic	1	216348747	216348747	C	A	criteria provided, single submitter	ClinGen:CA354065