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_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)	EYS	Pathogenic/Likely pathogenic	6	64431131	64431134	ATGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683447
Deletion	NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs)	RPGR	Likely pathogenic	X	38145161	38145171	TCTCCTTCCTCC	T	criteria provided, single submitter	ClinGen:CA658684294
single nucleotide variant	NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145647	38145647	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730244
single nucleotide variant	NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145836	38145836	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730692
single nucleotide variant	NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)	USH2A	Pathogenic/Likely pathogenic	1	216051100	216051100	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344828778
Deletion	NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	USH2A	Pathogenic/Likely pathogenic	1	216498678	216498679	AAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA529004316
single nucleotide variant	NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	BBS2	Pathogenic/Likely pathogenic	16	56518732	56518732	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8065521
Duplication	NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)	USH2A	Pathogenic/Likely pathogenic	1	216061811	216061812	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA1394668
Deletion	NM_018418.5(SPATA7):c.115_119del (p.Ser39fs)	SPATA7	Pathogenic	14	88859753	88859757	CCTCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798242
single nucleotide variant	NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)	USH2A	Pathogenic	1	216462717	216462717	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396371