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
single nucleotide variant	NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94474323	94474323	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA119145,UniProtKB:P78363#VAR_012602,OMIM:601691.0033
single nucleotide variant	NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	SNRNP200	Pathogenic	2	96953706	96953706	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254265,UniProtKB:O75643#VAR_063539,OMIM:601664.0001
single nucleotide variant	NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)	RPGR	Pathogenic	X	38163999	38163999	C	T	criteria provided, single submitter	ClinGen:CA226447,UniProtKB:Q92834#VAR_006852,OMIM:312610.0003
single nucleotide variant	NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)	RPGR	Pathogenic	X	38182174	38182174	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226376,UniProtKB:Q92834#VAR_008501,OMIM:312610.0006
single nucleotide variant	NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)	RPGR	Pathogenic	X	38145602	38145602	C	A	criteria provided, single submitter	ClinGen:CA254931,OMIM:312610.0012
Deletion	NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	RPGR	Pathogenic	X	38145155	38145156	TCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120803,OMIM:312610.0014
single nucleotide variant	NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)	RPGR	Pathogenic	X	38176671	38176671	C	G	criteria provided, single submitter	ClinGen:CA120805,UniProtKB:Q92834#VAR_018060,OMIM:312610.0020
Deletion	NM_006915.3(RP2):c.16_18del (p.Ser6del)	RP2	Likely pathogenic	X	46696550	46696552	TCTC	T	criteria provided, single submitter	ClinGen:CA255297,OMIM:300757.0001
single nucleotide variant	NM_006915.3(RP2):c.76C>T (p.Gln26Ter)	RP2	Pathogenic	X	46696611	46696611	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255299,OMIM:300757.0002
single nucleotide variant	NM_006915.3(RP2):c.353G>A (p.Arg118His)	RP2	Pathogenic	X	46713161	46713161	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255301,UniProtKB:O75695#VAR_008499,OMIM:300757.0003