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.3994C>T (p.Gln1332Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94497468	94497468	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227152
single nucleotide variant	NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)	ABCA4	Pathogenic	1	94497564	94497564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227145
single nucleotide variant	NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter)	ABCA4	Pathogenic	1	94497588	94497588	G	A	criteria provided, single submitter	ClinGen:CA227143
single nucleotide variant	NM_000350.3(ABCA4):c.3862+1G>A	ABCA4	Pathogenic	1	94502295	94502295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227142
single nucleotide variant	NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)	ABCA4	Pathogenic	1	94502706	94502706	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227137
single nucleotide variant	NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter)	ABCA4	Pathogenic	1	94502760	94502760	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227133
single nucleotide variant	NM_000350.3(ABCA4):c.3749T>C (p.Leu1250Pro)	ABCA4	Likely pathogenic	1	94502765	94502765	A	G	criteria provided, single submitter	ClinGen:CA227132,UniProtKB:P78363#VAR_012567
single nucleotide variant	NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp)	ABCA4	Likely pathogenic	1	94502811	94502811	T	C	criteria provided, single submitter	ClinGen:CA227130
single nucleotide variant	NM_000350.3(ABCA4):c.3607+1G>A	ABCA4	Likely pathogenic	1	94505598	94505598	C	T	criteria provided, single submitter	ClinGen:CA227124
single nucleotide variant	NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94506901	94506901	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227116,UniProtKB:P78363#VAR_008439