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.1445T>A (p.Met482Lys)	HGSNAT	Likely pathogenic	8	43048967	43048967	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114867,OMIM:610453.0005
single nucleotide variant	NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)	RDH12	Likely pathogenic	14	68191273	68191273	T	A	criteria provided, single submitter	ClinGen:CA252090,UniProtKB:Q96NR8#VAR_020859,OMIM:608830.0012
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_004183.4(BEST1):c.715G>A (p.Val239Met)	BEST1	Likely pathogenic	11	61725618	61725618	G	A	criteria provided, single submitter	ClinGen:CA115730,UniProtKB:O76090#VAR_058276,OMIM:607854.0020
single nucleotide variant	NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr)	PRPF8	Likely pathogenic	17	1554203	1554203	G	T	criteria provided, single submitter	ClinGen:CA252743,UniProtKB:Q6P2Q9#VAR_022626,OMIM:607300.0004
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.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_174878.3(CLRN1):c.359T>A (p.Met120Lys)	CLRN1	Likely pathogenic	3	150659443	150659443	A	T	criteria provided, single submitter	ClinGen:CA116819,UniProtKB:P58418#VAR_012241,OMIM:606397.0002
single nucleotide variant	NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)	CRB1	Likely pathogenic	1	197404292	197404292	T	G	criteria provided, single submitter	ClinGen:CA117707,UniProtKB:P82279#VAR_011648,OMIM:604210.0006