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_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)	USH2A	Pathogenic/Likely pathogenic	1	215853501	215853501	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1393508
single nucleotide variant	NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)	USH2A	Pathogenic	1	216497611	216497611	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603533
single nucleotide variant	NM_017739.4(POMGNT1):c.314C>G (p.Ser105Ter)	POMGNT1	Likely pathogenic	1	46662443	46662443	G	C	criteria provided, single submitter	ClinGen:CA16603663
single nucleotide variant	NM_000350.3(ABCA4):c.5898+1G>A	ABCA4	Pathogenic	1	94473790	94473790	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603700
single nucleotide variant	NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94481325	94481325	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603704
single nucleotide variant	NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)	ABCA4	Likely pathogenic	1	94520717	94520717	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603706
single nucleotide variant	NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94528151	94528151	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603707
single nucleotide variant	NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)	ABCA4	Pathogenic/Likely pathogenic	1	94466627	94466627	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16044110
single nucleotide variant	NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile)	ABCA4	Pathogenic/Likely pathogenic	1	94476424	94476424	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957183
single nucleotide variant	NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)	ABCA4	Pathogenic/Likely pathogenic	1	94476830	94476830	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957222