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.3364G>A (p.Glu1122Lys)	ABCA4	Pathogenic	1	94506923	94506923	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227113,UniProtKB:P78363#VAR_008438,OMIM:601691.0037
single nucleotide variant	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94508323	94508323	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220683,UniProtKB:P78363#VAR_012562,ClinVar:1048126
single nucleotide variant	NM_000350.3(ABCA4):c.4540-2A>G	ABCA4	Pathogenic	1	94490606	94490606	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220686
single nucleotide variant	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Pathogenic/Likely pathogenic	1	94476951	94476951	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220687,OMIM:601691.0030,ClinVar:1048134
single nucleotide variant	NM_000350.3(ABCA4):c.67-2A>G	ABCA4	Pathogenic/Likely pathogenic	1	94578624	94578624	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345425
single nucleotide variant	NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94546126	94546126	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226858,UniProtKB:P78363#VAR_008409
Deletion	NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)	ABCA4	Pathogenic/Likely pathogenic	1	94546095	94546108	CCTTATAGTTATTGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226861
single nucleotide variant	NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter)	ABCA4	Pathogenic	1	94546067	94546067	T	A	criteria provided, single submitter	ClinGen:CA226866
Deletion	NM_000350.3(ABCA4):c.108del (p.Leu37fs)	ABCA4	Pathogenic/Likely pathogenic	1	94578581	94578581	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226868
single nucleotide variant	NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	ABCA4	Pathogenic	1	94544895	94544895	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA179692