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_001379270.1(CNGA1):c.179del (p.Gly60fs)	CNGA1	Pathogenic	4	47953415	47953415	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270048,OMIM:123825.0008
single nucleotide variant	NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)	EYS	Pathogenic	6	66044889	66044889	C	A	criteria provided, single submitter	ClinGen:CA270051
Duplication	NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)	EYS	Pathogenic	6	65300802	65300803	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA270055
single nucleotide variant	NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)	EYS	Pathogenic	6	64791763	64791763	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270059
single nucleotide variant	NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)	EYS	Pathogenic	6	64472506	64472506	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270065
single nucleotide variant	NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)	EYS	Pathogenic	6	64472413	64472413	A	T	criteria provided, single submitter	ClinGen:CA270067
single nucleotide variant	NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	EYS	Pathogenic/Likely pathogenic	6	64431122	64431122	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270070
Duplication	NM_001242957.3(MAK):c.340dup (p.Ala114fs)	MAK	Pathogenic	6	10813894	10813895	G	GC	criteria provided, single submitter	ClinGen:CA270074
single nucleotide variant	NM_001297.5(CNGB1):c.217+5G>C	CNGB1	Pathogenic/Likely pathogenic	16	57998386	57998386	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA270081
single nucleotide variant	NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	BEST1	Pathogenic	11	61725666	61725666	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270085