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
Duplication	NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	USH2A	Pathogenic/Likely pathogenic	1	216062040	216062041	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602757
single nucleotide variant	NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter)	ABCA4	Pathogenic	1	94548913	94548913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602780
single nucleotide variant	NM_000350.3(ABCA4):c.3G>T (p.Met1Ile)	ABCA4	Pathogenic	1	94586599	94586599	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602781
single nucleotide variant	NM_000350.3(ABCA4):c.1100-2A>T	ABCA4	Pathogenic	1	94545019	94545019	T	A	criteria provided, single submitter	ClinGen:CA10602794
single nucleotide variant	NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter)	CERKL	Pathogenic	2	182413468	182413468	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2010592
Indel	NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu)	RHO	Pathogenic	3	129249761	129249762	GG	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602881
Deletion	NM_003322.6(TULP1):c.845del (p.Pro282fs)	TULP1	Pathogenic	6	35473934	35473934	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602945
single nucleotide variant	NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)	KLHL7	Pathogenic/Likely pathogenic	7	23205356	23205356	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4186536,OMIM:611119.0011
single nucleotide variant	NM_033100.4(CDHR1):c.863-1G>A	CDHR1	Pathogenic/Likely pathogenic	10	85965582	85965582	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603072
single nucleotide variant	NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)	BEST1	Pathogenic/Likely pathogenic	11	61719381	61719381	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603253