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.236_239dup (p.Gln81fs)	USH2A	Pathogenic	1	216595439	216595440	G	GGTAC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.302del (p.Phe101fs)	USH2A	Likely pathogenic	1	216595377	216595377	GA	G	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.387del (p.Phe129fs)	USH2A	Pathogenic/Likely pathogenic	1	216595292	216595292	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)	USH2A	Pathogenic/Likely pathogenic	1	216595230	216595230	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.486-14G>A	USH2A	Pathogenic/Likely pathogenic	1	216592035	216592035	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396771
single nucleotide variant	NM_206933.4(USH2A):c.490G>T (p.Val164Phe)	USH2A	Likely pathogenic	1	216592017	216592017	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270157
Deletion	NM_206933.4(USH2A):c.545_546del (p.Lys182fs)	USH2A	Pathogenic	1	216591961	216591962	CTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.486-1_625del	USH2A	Likely pathogenic	1	216591882	216592022	TTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)	USH2A	Pathogenic	1	216591875	216591875	C	T	criteria provided, single submitter	ClinGen:CA273632
single nucleotide variant	NM_206933.4(USH2A):c.651+1G>A	USH2A	Likely pathogenic	1	216591855	216591855	C	T	criteria provided, multiple submitters, no conflicts	-