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
Duplication	NM_206933.4(USH2A):c.5001dup (p.Gly1668fs)	USH2A	Pathogenic	1	216258205	216258206	C	CT	criteria provided, single submitter	ClinGen:CA262104
single nucleotide variant	NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	USH2A	Pathogenic	1	216246634	216246634	C	T	reviewed by expert panel	ClinGen:CA262105,UniProtKB:O75445#VAR_072008
single nucleotide variant	NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)	USH2A	Pathogenic/Likely pathogenic	1	216246300	216246300	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262107
single nucleotide variant	NM_206933.4(USH2A):c.5857+2T>C	USH2A	Likely pathogenic	1	216246229	216246229	A	G	reviewed by expert panel	ClinGen:CA262109
single nucleotide variant	NM_206933.4(USH2A):c.5858-1G>A	USH2A	Pathogenic/Likely pathogenic	1	216243635	216243635	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262110
single nucleotide variant	NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)	USH2A	Pathogenic	1	216219874	216219874	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262111
Deletion	NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)	USH2A	Pathogenic/Likely pathogenic	1	216219796	216219809	ACTGCCTGAATAGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262113
single nucleotide variant	NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)	USH2A	Pathogenic	1	216108014	216108014	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262116
single nucleotide variant	NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	USH2A	Pathogenic/Likely pathogenic	1	216500979	216500979	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA143613,UniProtKB:O75445#VAR_054557
single nucleotide variant	NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)	USH2A	Pathogenic	1	216500961	216500961	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262118