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.1055C>T (p.Thr352Ile)	USH2A	Pathogenic/Likely pathogenic	1	216498735	216498735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396612
Deletion	NM_206933.4(USH2A):c.895del (p.Gln299fs)	USH2A	Pathogenic	1	216498895	216498895	TG	T	criteria provided, single submitter	ClinGen:CA529004272
single nucleotide variant	NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)	USH2A	Pathogenic	1	216500961	216500961	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396686
single nucleotide variant	NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	USH2A	Pathogenic/Likely pathogenic	1	216595579	216595579	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396855
single nucleotide variant	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65	Likely pathogenic	1	68914327	68914327	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA902628
single nucleotide variant	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Pathogenic/Likely pathogenic	1	94484001	94484001	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA26843511
single nucleotide variant	NM_000350.3(ABCA4):c.5018+5G>A	ABCA4	Likely pathogenic	1	94486791	94486791	C	T	criteria provided, single submitter	ClinGen:CA645509082
single nucleotide variant	NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)	ABCA4	Likely pathogenic	1	94487448	94487448	A	C	criteria provided, single submitter	ClinGen:CA341283909
Deletion	NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)	ABCA4	Pathogenic	1	94495003	94495003	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA524697424
single nucleotide variant	NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn)	ABCA4	Pathogenic	1	94508346	94508346	A	T	criteria provided, single submitter	ClinGen:CA341291996