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	NC_000006.12:g.(?_64902103)_(64945924_?)del	EYS	Pathogenic	6	65611996	65655817	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_65384376)_(65384510_?)del	EYS	Pathogenic	6	66094269	66094403	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001142800.2(EYS):c.1766+1G>T	EYS	Likely pathogenic	6	66044872	66044872	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.7228+1G>A	EYS	Pathogenic	6	64574078	64574078	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.7055+1G>A	EYS	Pathogenic/Likely pathogenic	6	64694275	64694275	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.5834_5835+4del	EYS	Pathogenic	6	65149051	65149056	CTTACCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001142800.2(EYS):c.1057-1G>A	EYS	Likely pathogenic	6	66112499	66112499	C	T	criteria provided, single submitter	-
Deletion	NM_152443.3(RDH12):c.157_187+178del	RDH12	Likely pathogenic	14	68191277	68191485	GCAAGGAGACGGCCAGAGAGCTCGCTAGCCGAGGTAAGTGTTTCCCCTTTAGTCTCCAAAGGGCCATGCCTCCCACCCTTCTTCCCACTGGGGCCTCTGTCCATATTGCTTTGTGTTTCCTCCTAGGCTTGGGGGCTCTGACTAGAAATTCAAGGAACCTGGGATTCAAGTCCAACTGTGACACCAACTTACACTGTGGCCTCCAATAAA	G	criteria provided, single submitter	-