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_006343.3(MERTK):c.2059C>T (p.Arg687Ter)	MERTK	Likely pathogenic	2	112767623	112767623	C	T	criteria provided, single submitter	-
Deletion	NM_001029883.3(PCARE):c.2298del (p.Arg767fs)	PCARE	Pathogenic/Likely pathogenic	2	29294830	29294830	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)	PRPF31	Pathogenic/Likely pathogenic	19	54631494	54631494	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.12093C>A (p.Tyr4031Ter)	USH2A	Pathogenic	1	215853692	215853692	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_205861.3(DHDDS):c.109C>A (p.Arg37Ser)	DHDDS	Pathogenic	1	26764704	26764704	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)	ABCA4	Likely pathogenic	1	94467464	94467464	T	G	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.15353del (p.Asn5118fs)	USH2A	Likely pathogenic	1	215802322	215802322	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_004183.4(BEST1):c.888C>A (p.Asn296Lys)	BEST1	Likely pathogenic	11	61726990	61726990	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)	PRPF8	Pathogenic/Likely pathogenic	17	1558827	1558827	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter)	FAM161A	Pathogenic/Likely pathogenic	2	62066934	62066934	G	C	criteria provided, multiple submitters, no conflicts	-