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.3331G>T (p.Glu1111Ter)	CRB1	Pathogenic	1	197404324	197404324	G	T	criteria provided, single submitter	ClinGen:CA228038
single nucleotide variant	NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)	CRB1	Pathogenic	1	197411296	197411296	G	A	criteria provided, single submitter	ClinGen:CA228044
Deletion	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1	Pathogenic	1	197298091	197298097	TGAAATAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228053
single nucleotide variant	NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)	PROM1	Pathogenic	4	16002140	16002140	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA201058
single nucleotide variant	NM_206933.4(USH2A):c.14792-2A>G	USH2A	Pathogenic/Likely pathogenic	1	215814078	215814078	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228956
single nucleotide variant	NM_000541.5(SAG):c.523C>T (p.Arg175Ter)	SAG	Pathogenic	2	234237134	234237134	C	T	criteria provided, single submitter	ClinGen:CA150740,OMIM:181031.0006
single nucleotide variant	NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)	KIZ	Pathogenic	20	21117104	21117104	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA151548,OMIM:615757.0001
single nucleotide variant	NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)	KIZ	Pathogenic	20	21106808	21106808	G	T	criteria provided, single submitter	ClinGen:CA151550,OMIM:615757.0002
Deletion	NM_018474.6(KIZ):c.119_122del (p.Lys40fs)	KIZ	Pathogenic	20	21112767	21112770	AAACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA151553,OMIM:615757.0003
single nucleotide variant	NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)	USH2A	Pathogenic	1	216373373	216373373	C	T	reviewed by expert panel	ClinGen:CA269917