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_015662.3(IFT172):c.2716C>T (p.Gln906Ter)	IFT172	Pathogenic	2	27682316	27682316	G	A	criteria provided, single submitter	ClinGen:CA149726,OMIM:607386.0005
Deletion	NM_015662.3(IFT172):c.2158del (p.Arg720fs)	IFT172	Pathogenic/Likely pathogenic	2	27684661	27684661	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA149734,OMIM:607386.0011
single nucleotide variant	NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter)	IFT172	Pathogenic	2	27676295	27676295	G	A	criteria provided, single submitter	ClinGen:CA149735,OMIM:607386.0012
single nucleotide variant	NM_014714.4(IFT140):c.874G>A (p.Val292Met)	IFT140	Pathogenic	16	1637962	1637962	C	T	criteria provided, single submitter	ClinGen:CA149747,UniProtKB:Q96RY7#VAR_068525,OMIM:614620.0008
Deletion	NM_014714.4(IFT140):c.1380del (p.Asn460fs)	IFT140	Pathogenic	16	1633367	1633367	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA149749,OMIM:614620.0010
single nucleotide variant	NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)	PRPH2	Pathogenic	6	42689871	42689871	C	T	criteria provided, single submitter	ClinGen:CA226216
Deletion	NM_000322.5(PRPH2):c.371del (p.Gly124fs)	PRPH2	Pathogenic	6	42689702	42689702	GC	G	criteria provided, single submitter	ClinGen:CA226225
single nucleotide variant	NM_000322.5(PRPH2):c.421T>C (p.Tyr141His)	PRPH2	Pathogenic	6	42689652	42689652	A	G	criteria provided, single submitter	ClinGen:CA226232
single nucleotide variant	NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	PRPH2	Pathogenic/Likely pathogenic	6	42689651	42689651	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA185988,OMIM:179605.0024
Deletion	NM_000322.5(PRPH2):c.441del (p.Gly148fs)	PRPH2	Pathogenic	6	42689632	42689632	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226235