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
Deletion	NM_201253.3(CRB1):c.3383del (p.Ile1128fs)	CRB1	Pathogenic	1	197404376	197404376	AT	A	criteria provided, single submitter	ClinGen:CA203797
single nucleotide variant	NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr)	ZNF408	Likely pathogenic	11	46726613	46726613	C	T	criteria provided, single submitter	OMIM:616454.0001,ClinGen:CA204005,UniProtKB:Q9H9D4#VAR_074613
single nucleotide variant	NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)	ZNF408	Pathogenic/Likely pathogenic	11	46726871	46726871	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204009,UniProtKB:Q9H9D4#VAR_074615,OMIM:616454.0004
single nucleotide variant	NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)	USH2A	Pathogenic	1	216348816	216348816	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA276026
single nucleotide variant	NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)	IFT172	Pathogenic/Likely pathogenic	2	27708298	27708298	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA204566
single nucleotide variant	NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)	EYS	Pathogenic/Likely pathogenic	6	64791792	64791792	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275998
single nucleotide variant	NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)	EYS	Pathogenic/Likely pathogenic	6	66115242	66115242	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA276000
Deletion	NM_031885.5(BBS2):c.661del (p.Leu221fs)	BBS2	Pathogenic/Likely pathogenic	16	56540088	56540088	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275985
single nucleotide variant	NM_003611.3(OFD1):c.929T>C (p.Phe310Ser)	OFD1	Likely pathogenic	X	13767646	13767646	T	C	criteria provided, single submitter	ClinGen:CA204783
single nucleotide variant	NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94526289	94526289	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347415