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.13313G>A (p.Trp4438Ter)	USH2A	Pathogenic/Likely pathogenic	1	215847940	215847940	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262086
Duplication	NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)	USH2A	Pathogenic	1	215844415	215844416	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA262088
single nucleotide variant	NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)	USH2A	Pathogenic/Likely pathogenic	1	215824097	215824097	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262089
single nucleotide variant	NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	USH2A	Pathogenic/Likely pathogenic	1	215823990	215823990	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262091,UniProtKB:O75445#VAR_072052
single nucleotide variant	NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	USH2A	Pathogenic/Likely pathogenic	1	215813957	215813957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262093
single nucleotide variant	NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	USH2A	Pathogenic	1	216495263	216495263	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA262095,UniProtKB:O75445#VAR_025769
single nucleotide variant	NM_206933.4(USH2A):c.1841-2A>G	USH2A	Pathogenic	1	216462754	216462754	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262097
single nucleotide variant	NM_206933.4(USH2A):c.3158-6A>G	USH2A	Likely pathogenic	1	216380779	216380779	T	C	criteria provided, single submitter	ClinGen:CA143458
single nucleotide variant	NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)	USH2A	Pathogenic	1	216380622	216380622	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262098
Deletion	NM_206933.4(USH2A):c.3435del (p.Val1147fs)	USH2A	Pathogenic	1	216373345	216373345	CT	C	criteria provided, single submitter	ClinGen:CA262100