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.5584+6T>C	ABCA4	Pathogenic	1	94476812	94476812	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227320
single nucleotide variant	NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu)	ABCA4	Likely pathogenic	1	94476413	94476413	C	T	criteria provided, single submitter	ClinGen:CA227329,UniProtKB:P78363#VAR_008471
single nucleotide variant	NM_000350.3(ABCA4):c.571-1G>T	ABCA4	Pathogenic/Likely pathogenic	1	94564548	94564548	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227335
single nucleotide variant	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Pathogenic/Likely pathogenic	1	94476351	94476351	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227338,OMIM:601691.0010,ClinVar:1048131
single nucleotide variant	NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)	ABCA4	Pathogenic/Likely pathogenic	1	94474381	94474381	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227341,UniProtKB:P78363#VAR_012601
Deletion	NM_000350.3(ABCA4):c.5836-2del	ABCA4	Pathogenic	1	94473855	94473855	CT	C	criteria provided, single submitter	ClinGen:CA227344
single nucleotide variant	NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg)	ABCA4	Pathogenic	1	94473281	94473281	C	T	criteria provided, single submitter	ClinGen:CA227353
Deletion	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Pathogenic	1	94473278	94473278	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227355
single nucleotide variant	NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg)	ABCA4	Pathogenic	1	94473272	94473272	C	G	criteria provided, single submitter	ClinGen:CA227356,UniProtKB:P78363#VAR_012604
single nucleotide variant	NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	ABCA4	Pathogenic	1	94473266	94473266	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227357,UniProtKB:P78363#VAR_008477