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_007123.6(USH2A):c.1992dup (p.Lys665Ter)	USH2A	Pathogenic	1	216424419	216424420	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA273575
Deletion	NM_206933.2(USH2A):c.(?_1645)_(1840_?)del	USH2A	Pathogenic	1	216465517	216465712	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)	USH2A	Pathogenic	1	215916627	215916627	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273676
single nucleotide variant	NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)	USH2A	Pathogenic	1	216420195	216420195	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273290
single nucleotide variant	NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)	USH2A	Pathogenic	1	216591875	216591875	C	T	criteria provided, single submitter	ClinGen:CA273632
single nucleotide variant	NM_015629.4(PRPF31):c.1273C>T (p.Gln425Ter)	PRPF31	Pathogenic	19	54632558	54632558	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273359
single nucleotide variant	NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	CNGB1	Pathogenic/Likely pathogenic	16	57935275	57935275	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA233760
single nucleotide variant	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Pathogenic	4	658734	658734	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273358
Deletion	NM_006915.3(RP2):c.352del (p.Arg118fs)	RP2	Pathogenic	X	46713160	46713160	TC	T	criteria provided, single submitter	ClinGen:CA273364
Indel	NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs)	NR2E3	Pathogenic	15	72103847	72103848	GC	AGTGTGCCTCCAGTGCCTCGCTCCA	criteria provided, single submitter	ClinGen:CA273766,OMIM:604485.0008