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_206933.2(USH2A):c.1644+10004_1972-12164del	USH2A	Likely pathogenic	1	216436604	216485221	na	na	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.1803del (p.Gly602fs)	USH2A	Pathogenic	1	216465554	216465554	CT	C	criteria provided, single submitter	ClinGen:CA658795193
Deletion	NM_206933.2(USH2A):c.(?_4628)_(9371_?)del	USH2A	Pathogenic	1	216011333	216270555	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.2809+2T>A	USH2A	Pathogenic/Likely pathogenic	1	216419925	216419925	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344863986
single nucleotide variant	NM_001029883.3(PCARE):c.2393G>A (p.Trp798Ter)	PCARE	Likely pathogenic	2	29294735	29294735	C	T	criteria provided, single submitter	ClinGen:CA1592212
Deletion	NM_000322.5(PRPH2):c.174_184del (p.His58fs)	PRPH2	Likely pathogenic	6	42689889	42689899	TTGGGCACAAAA	T	criteria provided, single submitter	ClinGen:CA658796764
single nucleotide variant	NM_152419.3(HGSNAT):c.852-2A>C	HGSNAT	Pathogenic	8	43033215	43033215	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4736673
Deletion	NM_018418.5(SPATA7):c.1373del (p.Val458fs)	SPATA7	Pathogenic	14	88904339	88904339	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7298799,OMIM:609868.0008
Deletion	NM_003611.3(OFD1):c.1840del (p.Ala614fs)	OFD1	Pathogenic	X	13778419	13778419	TG	T	criteria provided, single submitter	ClinGen:CA658794117
Duplication	NM_006915.3(RP2):c.76_77dup (p.Gln26fs)	RP2	Pathogenic	X	46696610	46696611	G	GCA	criteria provided, single submitter	ClinGen:CA658799726