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.234+1G>A	HGSNAT	Pathogenic	8	43002207	43002207	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129492,OMIM:610453.0010
single nucleotide variant	NM_001102564.3(IFT43):c.1A>G (p.Met1Val)	IFT43	Pathogenic	14	76452130	76452130	A	G	criteria provided, single submitter	ClinGen:CA342774,OMIM:614068.0001
single nucleotide variant	NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)	IFT140	Pathogenic	16	1614075	1614075	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA129885,UniProtKB:Q96RY7#VAR_068529,OMIM:614620.0001
single nucleotide variant	NM_014714.4(IFT140):c.2399+1G>T	IFT140	Pathogenic	16	1607935	1607935	C	A	criteria provided, multiple submitters, no conflicts	OMIM:614620.0002,ClinGen:CA129886
single nucleotide variant	NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	IFT140	Pathogenic/Likely pathogenic	16	1642177	1642177	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA129889,OMIM:614620.0005
Duplication	NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)	IFT140	Pathogenic	16	1570005	1570006	G	GC	criteria provided, single submitter	ClinGen:CA129890,OMIM:614620.0006
single nucleotide variant	NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	BBS2	Pathogenic/Likely pathogenic	16	56536294	56536294	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260182
Deletion	NM_031885.5(BBS2):c.1770del (p.Phe590fs)	BBS2	Pathogenic/Likely pathogenic	16	56531682	56531682	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260184
single nucleotide variant	NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)	PRCD	Pathogenic	17	74536287	74536287	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260582,OMIM:610598.0002
Deletion	NM_033100.4(CDHR1):c.338del (p.Gly113fs)	CDHR1	Pathogenic	10	85957581	85957581	TG	T	criteria provided, multiple submitters, no conflicts	OMIM:609502.0002