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_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)	USH2A	Likely pathogenic	1	215847697	215847697	CA	C	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)	USH2A	Likely pathogenic	1	215932035	215932036	A	AT	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)	USH2A	Likely pathogenic	1	215901703	215901704	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)	USH2A	Likely pathogenic	1	215802263	215802263	G	A	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.12602del (p.Gly4201fs)	USH2A	Likely pathogenic	1	215848651	215848651	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.14344-1G>A	USH2A	Likely pathogenic	1	215822109	215822109	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.14679del (p.Ala4894fs)	USH2A	Likely pathogenic	1	215820976	215820976	CT	C	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)	USH2A	Likely pathogenic	1	215813899	215813900	C	CTTTT	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9919T>A (p.Cys3307Ser)	USH2A	Likely pathogenic	1	215972288	215972288	A	T	criteria provided, single submitter	-
Insertion	NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs)	PRPH2	Likely pathogenic	6	42689607	42689608	T	TGA	criteria provided, single submitter	-