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.13331C>T (p.Pro4444Leu)	USH2A	Likely pathogenic	1	215847922	215847922	G	A	criteria provided, single submitter	ClinGen:CA1393316
single nucleotide variant	NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)	USH2A	Pathogenic	1	215848299	215848299	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344848080
single nucleotide variant	NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)	USH2A	Pathogenic	1	215848434	215848434	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344848937
single nucleotide variant	NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)	USH2A	Pathogenic	1	215914728	215914728	G	T	criteria provided, single submitter	ClinGen:CA344833144
single nucleotide variant	NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)	USH2A	Pathogenic/Likely pathogenic	1	215963607	215963607	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344844828
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
Deletion	NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	USH2A	Pathogenic/Likely pathogenic	1	215972334	215972347	GGCCATGGCCATCAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA529002310
single nucleotide variant	NM_206933.4(USH2A):c.9571-2A>G	USH2A	Pathogenic/Likely pathogenic	1	215987248	215987248	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1394268
single nucleotide variant	NM_206933.4(USH2A):c.6050-1G>A	USH2A	Pathogenic/Likely pathogenic	1	216221990	216221990	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA37460459
single nucleotide variant	NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	USH2A	Pathogenic	1	216369924	216369924	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1395785