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
Deletion	NM_206933.4(USH2A):c.7594+2del	USH2A	Likely pathogenic	1	216073415	216073415	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.8846-2A>G	USH2A	Likely pathogenic	1	216019377	216019377	T	C	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.6810del (p.Ile2271fs)	USH2A	Likely pathogenic	1	216144114	216144114	TA	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.545_546del (p.Lys182fs)	USH2A	Pathogenic	1	216591961	216591962	CTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.6485+1G>A	USH2A	Likely pathogenic	1	216173744	216173744	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.6326-3_6332del	USH2A	Likely pathogenic	1	216173898	216173907	TGCTAAATCTA	T	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)	USH2A	Pathogenic/Likely pathogenic	1	216219919	216219920	T	TG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.6050-2A>G	USH2A	Pathogenic/Likely pathogenic	1	216221991	216221991	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.8845+1G>A	USH2A	Likely pathogenic	1	216040348	216040348	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs)	USH2A	Likely pathogenic	1	215933129	215933133	CAATAT	C	criteria provided, single submitter	-