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.14582+1G>C	USH2A	Likely pathogenic	1	215821869	215821869	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs)	USH2A	Likely pathogenic	1	215953279	215953282	ATTTC	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)	USH2A	Pathogenic	1	216251604	216251604	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)	USH2A	Likely pathogenic	1	216258189	216258189	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)	USH2A	Likely pathogenic	1	215822028	215822028	G	T	criteria provided, single submitter	-
Insertion	NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs)	USH2A	Likely pathogenic	1	215955527	215955528	A	AAT	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.13812-1G>A	USH2A	Pathogenic/Likely pathogenic	1	215844636	215844636	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.10586-2A>G	USH2A	Pathogenic/Likely pathogenic	1	215955540	215955540	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)	USH2A	Pathogenic/Likely pathogenic	1	215956140	215956140	T	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)	USH2A	Likely pathogenic	1	215847916	215847916	T	GAC	criteria provided, single submitter	-