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_004183.4(BEST1):c.-37+1G>T	BEST1	Likely pathogenic	11	61717900	61717900	G	T	criteria provided, single submitter	ClinGen:CA645509454
single nucleotide variant	NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)	RP1	Likely pathogenic	8	55539098	55539098	C	T	criteria provided, single submitter	ClinGen:CA370994333
Deletion	NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	RP1	Likely pathogenic	8	55537940	55537941	CAT	C	criteria provided, single submitter	ClinGen:CA4751389
Indel	NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)	EYS	Likely pathogenic	6	65300418	65300443	ACTGAGCCTGTCAATGGTGGCAGATT	TA	criteria provided, single submitter	ClinGen:CA645509486
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
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_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_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)	USH2A	Likely pathogenic	1	215972249	215972249	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344848146
single nucleotide variant	NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)	USH2A	Likely pathogenic	1	215847922	215847922	G	A	criteria provided, single submitter	ClinGen:CA1393316
single nucleotide variant	NM_003611.3(OFD1):c.1654+5G>C	OFD1	Likely pathogenic	X	13776572	13776572	G	C	criteria provided, single submitter	ClinGen:CA645372673