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	NC_000001.10:g.(?_46656135)_(46656466_?)dup	POMGNT1	Likely pathogenic	1	46656135	46656466	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.6325+1G>A	USH2A	Pathogenic	1	216219772	216219772	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.486-1_625del	USH2A	Likely pathogenic	1	216591882	216592022	TTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC	T	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.652+1G>T	POMGNT1	Pathogenic/Likely pathogenic	1	46660515	46660515	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201548.5(CERKL):c.820+2C>A	CERKL	Pathogenic	2	182423291	182423291	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_201548.5(CERKL):c.1366-1G>A	CERKL	Likely pathogenic	2	182403992	182403992	C	T	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_150972446)_(150973009_?)del	CLRN1	Pathogenic	3	150690233	150690796	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_182916.3(TRNT1):c.1056+1G>A	TRNT1	Pathogenic	3	3189388	3189388	G	A	criteria provided, single submitter	-
Deletion	NM_001278293.3(ARL6):c.350-13_350-2del	ARL6	Likely pathogenic	3	97506818	97506829	CTTATTTTCTCTT	C	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_64617408)_(64617543_?)del	EYS	Pathogenic	6	65327301	65327436	na	na	criteria provided, single submitter	-