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_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)	IMPG2	Pathogenic	3	100961664	100961664	G	A	criteria provided, single submitter	ClinGen:CA252815,OMIM:607056.0004
single nucleotide variant	NM_017739.4(POMGNT1):c.1413+1G>T	POMGNT1	Likely pathogenic	1	46657979	46657979	C	A	criteria provided, single submitter	ClinGen:CA116538,OMIM:606822.0001
single nucleotide variant	NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	POMGNT1	Likely pathogenic	1	46656145	46656145	C	T	criteria provided, single submitter	ClinGen:CA116540,UniProtKB:Q8WZA1#VAR_023109,OMIM:606822.0003
single nucleotide variant	NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	POMGNT1	Pathogenic/Likely pathogenic	1	46658069	46658069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116547,UniProtKB:Q8WZA1#VAR_023106,OMIM:606822.0007
single nucleotide variant	NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	POMGNT1	Pathogenic/Likely pathogenic	1	46659545	46659545	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA211242,UniProtKB:Q8WZA1#VAR_023104,OMIM:606822.0008
single nucleotide variant	NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	POMGNT1	Pathogenic	1	46662690	46662690	G	A	criteria provided, single submitter	ClinGen:CA116550,OMIM:606822.0009,OMIM:606822.0019
single nucleotide variant	NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	POMGNT1	Pathogenic/Likely pathogenic	1	46655211	46655211	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116560,UniProtKB:Q8WZA1#VAR_065026,OMIM:606822.0014
single nucleotide variant	NM_017739.4(POMGNT1):c.652+1G>A	POMGNT1	Likely pathogenic	1	46660515	46660515	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116563,OMIM:606822.0015
single nucleotide variant	NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	POMGNT1	Pathogenic/Likely pathogenic	1	46657840	46657840	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116564,UniProtKB:Q8WZA1#VAR_023107,OMIM:606822.0016
single nucleotide variant	NM_015629.4(PRPF31):c.527+3A>G	PRPF31	Pathogenic/Likely pathogenic	19	54626942	54626942	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253135,OMIM:606419.0003