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_152419.3(HGSNAT):c.1542+1G>A	HGSNAT	Likely pathogenic	8	43052169	43052169	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1542+1G>C	HGSNAT	Likely pathogenic	8	43052169	43052169	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1614-2A>T	HGSNAT	Likely pathogenic	8	43052981	43052981	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.851+1G>A	HGSNAT	Likely pathogenic	8	43028887	43028887	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.744-2A>G	HGSNAT	Pathogenic/Likely pathogenic	8	43027451	43027451	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.852-1G>A	HGSNAT	Pathogenic	8	43033216	43033216	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)	HGSNAT	Pathogenic/Likely pathogenic	8	43033312	43033312	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	HGSNAT	Pathogenic/Likely pathogenic	8	43037306	43037306	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1542+2T>G	HGSNAT	Likely pathogenic	8	43052170	43052170	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)	HGSNAT	Likely pathogenic	8	43053043	43053043	C	G	criteria provided, single submitter	-