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.4393dup (p.Ala1465fs)	EYS	Pathogenic/Likely pathogenic	6	65301366	65301367	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.2259+1G>A	EYS	Pathogenic	6	65707474	65707474	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)	EYS	Pathogenic/Likely pathogenic	6	64430760	64430761	GAT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs)	EYS	Pathogenic/Likely pathogenic	6	64940671	64940680	GAAGCATCAAC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	EYS	Pathogenic/Likely pathogenic	6	64436508	64436512	TGAAAG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.7229-1G>A	EYS	Likely pathogenic	6	64516266	64516266	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	EYS	Pathogenic/Likely pathogenic	6	64431515	64431516	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	EYS	Pathogenic/Likely pathogenic	6	64436477	64436477	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_152419.3(HGSNAT):c.743+1del	HGSNAT	Likely pathogenic	8	43025834	43025834	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)	HGSNAT	Pathogenic	8	43046638	43046638	C	T	criteria provided, multiple submitters, no conflicts	-