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_152419.3(HGSNAT):c.744-2A>G	HGSNAT	Pathogenic/Likely pathogenic	8	43027451	43027451	A	G	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	-
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.8133_8137del (p.Phe2712fs)	EYS	Pathogenic/Likely pathogenic	6	64436508	64436512	TGAAAG	T	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.9166_9167del (p.Ile3056fs)	EYS	Pathogenic/Likely pathogenic	6	64430760	64430761	GAT	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	EYS	Pathogenic/Likely pathogenic	6	65301366	65301367	G	GC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	EYS	Pathogenic/Likely pathogenic	6	64431272	64431279	TTCTGCATG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	EYS	Pathogenic/Likely pathogenic	6	64430591	64430610	TAATTTTGCCAACAAAATTGG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	FAM161A	Pathogenic/Likely pathogenic	2	62066638	62066638	CA	C	criteria provided, multiple submitters, no conflicts	-