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.12067-1G>C	USH2A	Pathogenic/Likely pathogenic	1	215853719	215853719	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA262072
single nucleotide variant	NM_206933.4(USH2A):c.12067-2A>G	USH2A	Pathogenic	1	215853720	215853720	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262073
single nucleotide variant	NM_206933.4(USH2A):c.12295-2A>G	USH2A	Pathogenic/Likely pathogenic	1	215848960	215848960	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262074
single nucleotide variant	NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys)	USH2A	Likely pathogenic	1	216497611	216497611	C	G	criteria provided, single submitter	ClinGen:CA262075
single nucleotide variant	NM_206933.4(USH2A):c.12294+1G>C	USH2A	Pathogenic/Likely pathogenic	1	215853490	215853490	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA262077
single nucleotide variant	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Pathogenic	1	215848961	215848961	A	T	reviewed by expert panel	ClinGen:CA143283
single nucleotide variant	NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)	USH2A	Pathogenic	1	215848539	215848539	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262078
single nucleotide variant	NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)	USH2A	Pathogenic/Likely pathogenic	1	215848514	215848514	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262080
single nucleotide variant	NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	USH2A	Pathogenic	1	215848385	215848385	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262082
single nucleotide variant	NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	USH2A	Pathogenic/Likely pathogenic	1	215848123	215848123	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262084