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.9453T>A (p.Tyr3151Ter)	USH2A	Likely pathogenic	1	215990456	215990456	A	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.11703del (p.Phe3901fs)	USH2A	Likely pathogenic	1	215914725	215914725	TA	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)	USH2A	Likely pathogenic	1	215812506	215812512	GTAGAGGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.11712-2A>C	USH2A	Likely pathogenic	1	215901728	215901728	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)	USH2A	Likely pathogenic	1	215824125	215824138	GCAGAATTCACTGCC	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9959-1G>A	USH2A	Likely pathogenic	1	215963625	215963625	C	T	criteria provided, single submitter	-
Indel	NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs)	USH2A	Likely pathogenic	1	215960081	215960082	TT	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.15052+1G>A	USH2A	Likely pathogenic	1	215812496	215812496	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)	USH2A	Likely pathogenic	1	215813953	215813974	GCGTCGCCCTCCGTCGGTTAACA	G	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)	USH2A	Likely pathogenic	1	215848390	215848394	TGGTGG	T	criteria provided, single submitter	-