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
Duplication	NM_001142800.2(EYS):c.8243dup (p.Leu2748fs)	EYS	Pathogenic	6	64431683	64431684	T	TA	criteria provided, single submitter	-
Deletion	NM_001142800.2(EYS):c.3699del (p.Leu1234fs)	EYS	Pathogenic	6	65303188	65303188	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	EYS	Pathogenic	6	66063502	66063502	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)	EYS	Pathogenic	6	64940640	64940640	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)	CRB1	Pathogenic	1	197326056	197326056	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)	USH2A	Pathogenic	1	215808009	215808009	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)	USH2A	Pathogenic	1	215933168	215933168	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)	USH2A	Pathogenic	1	216061992	216061992	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)	USH2A	Pathogenic	1	216420443	216420443	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)	POMGNT1	Pathogenic	1	46659271	46659271	G	A	criteria provided, multiple submitters, no conflicts	-