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
Deletion	NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs)	CNGB1	Pathogenic/Likely pathogenic	16	57937755	57937758	CTCGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620217
single nucleotide variant	NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter)	CNGB1	Pathogenic	16	57938764	57938764	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620218
Deletion	NM_001297.5(CNGB1):c.1120_1121+2del	CNGB1	Pathogenic/Likely pathogenic	16	57983255	57983258	TACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8083553
single nucleotide variant	NM_006445.4(PRPF8):c.4733G>A (p.Arg1578Gln)	PRPF8	Likely pathogenic	17	1563778	1563778	C	T	criteria provided, single submitter	ClinGen:CA16620336
single nucleotide variant	NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	HK1	Pathogenic/Likely pathogenic	10	71158514	71158514	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5532875,OMIM:142600.0005
single nucleotide variant	NM_000350.3(ABCA4):c.6816+2T>A	ABCA4	Pathogenic/Likely pathogenic	1	94461663	94461663	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621567
single nucleotide variant	NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His)	ABCA4	Pathogenic/Likely pathogenic	1	94497334	94497334	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621568
Duplication	NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)	USH2A	Pathogenic/Likely pathogenic	1	215940094	215940095	G	GTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621589
single nucleotide variant	NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	USH2A	Pathogenic/Likely pathogenic	1	216052142	216052142	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621590
single nucleotide variant	NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)	USH2A	Pathogenic/Likely pathogenic	1	216380710	216380710	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621594