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_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	USH2A	Pathogenic	1	216498834	216498834	C	T	reviewed by expert panel	ClinGen:CA252231,UniProtKB:O75445#VAR_025764,OMIM:608400.0005
single nucleotide variant	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A	Pathogenic	1	216420460	216420460	C	A	reviewed by expert panel	ClinGen:CA252233,UniProtKB:O75445#VAR_025775,OMIM:608400.0006
single nucleotide variant	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A	Pathogenic	1	215901574	215901574	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252235,OMIM:608400.0007
single nucleotide variant	NM_206933.4(USH2A):c.949C>A (p.Arg317=)	USH2A	Pathogenic	1	216498841	216498841	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252237,OMIM:608400.0008
single nucleotide variant	NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	USH2A	Pathogenic	1	216497582	216497582	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252239,UniProtKB:O75445#VAR_025767,OMIM:608400.0009
single nucleotide variant	NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	USH2A	Pathogenic	1	216420527	216420527	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252242,OMIM:608400.0011
single nucleotide variant	NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)	USH2A	Likely pathogenic	1	215844427	215844427	T	C	criteria provided, single submitter	ClinGen:CA252244,UniProtKB:O75445#VAR_038369,OMIM:608400.0012
single nucleotide variant	NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	CERKL	Pathogenic/Likely pathogenic	2	182423344	182423344	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252246,OMIM:608381.0001,ClinVar:424768
Deletion	NM_144596.4(TTC8):c.1049+2_1049+4del	TTC8	Pathogenic	14	89336544	89336546	GTGC	G	criteria provided, multiple submitters, no conflicts	OMIM:608132.0002,ClinGen:CA252322
single nucleotide variant	NM_004183.4(BEST1):c.279G>C (p.Trp93Cys)	BEST1	Pathogenic	11	61723221	61723221	G	C	criteria provided, single submitter	ClinGen:CA227757,UniProtKB:O76090#VAR_000843,OMIM:607854.0001