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	-
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.187C>T (p.Arg63Ter)	USH2A	Pathogenic	1	216595492	216595492	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)	POMGNT1	Likely pathogenic	1	46655020	46655020	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1895+1G>C	POMGNT1	Pathogenic/Likely pathogenic	1	46655129	46655129	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1604+1G>A	POMGNT1	Likely pathogenic	1	46656391	46656391	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.880-1G>A	POMGNT1	Likely pathogenic	1	46659598	46659598	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1786-1G>A	POMGNT1	Likely pathogenic	1	46655240	46655240	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1649+2T>G	POMGNT1	Likely pathogenic	1	46656143	46656143	A	C	criteria provided, single submitter	-