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_182916.3(TRNT1):c.542_545del (p.Val181fs)	TRNT1	Pathogenic/Likely pathogenic	3	3186326	3186329	AAGTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2228709
Deletion	NM_000283.4(PDE6B):c.1860del (p.His620fs)	PDE6B	Pathogenic	4	656916	656916	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2794733
single nucleotide variant	NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)	PRPH2	Pathogenic/Likely pathogenic	6	42672183	42672183	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618285
single nucleotide variant	NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter)	PRPH2	Pathogenic	6	42689770	42689770	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618287
Deletion	NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)	EYS	Pathogenic	6	64498067	64498067	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618298
single nucleotide variant	NM_000188.3(HK1):c.1241G>A (p.Gly414Glu)	HK1	Likely pathogenic	10	71139827	71139827	G	A	criteria provided, single submitter	ClinGen:CA16618971,OMIM:142600.0006
single nucleotide variant	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	HK1	Pathogenic/Likely pathogenic	10	71142311	71142311	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618972,OMIM:142600.0008
single nucleotide variant	NM_004183.4(BEST1):c.102C>T (p.Gly34=)	BEST1	Pathogenic	11	61719380	61719380	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6040674
single nucleotide variant	NM_004183.4(BEST1):c.238T>A (p.Phe80Ile)	BEST1	Likely pathogenic	11	61722664	61722664	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619354
single nucleotide variant	NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)	BEST1	Pathogenic/Likely pathogenic	11	61724880	61724880	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6040815