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_006017.3(PROM1):c.2050C>T (p.Arg684Ter)	PROM1	Pathogenic	4	15991381	15991381	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)	RHO	Pathogenic/Likely pathogenic	3	129249765	129249765	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	CRB1	Pathogenic/Likely pathogenic	1	197396685	197396685	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)	CRB1	Pathogenic	1	197397128	197397128	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)	CRB1	Pathogenic	1	197404114	197404114	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	USH2A	Pathogenic/Likely pathogenic	1	216052410	216052410	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)	USH2A	Pathogenic	1	216370000	216370000	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.1391G>A (p.Arg464His)	USH2A	Pathogenic/Likely pathogenic	1	216496975	216496975	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)	ABCA4	Pathogenic	1	94466625	94466625	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)	ABCA4	Pathogenic	1	94506907	94506907	C	T	criteria provided, single submitter	-