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_000350.3(ABCA4):c.655A>T (p.Arg219Ter)	ABCA4	Pathogenic	1	94564463	94564463	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588304
Deletion	NM_006343.3(MERTK):c.2214del (p.Cys738fs)	MERTK	Pathogenic	2	112779023	112779023	GT	G	criteria provided, single submitter	ClinGen:CA10588308
single nucleotide variant	NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	HGSNAT	Pathogenic	8	43048933	43048933	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4736872
single nucleotide variant	NM_004183.4(BEST1):c.604C>T (p.Arg202Trp)	BEST1	Pathogenic	11	61724438	61724438	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6040780,UniProtKB:O76090#VAR_075347
single nucleotide variant	NM_004183.4(BEST1):c.636+1G>A	BEST1	Pathogenic	11	61724471	61724471	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588523
single nucleotide variant	NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)	BEST1	Pathogenic/Likely pathogenic	11	61726976	61726976	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588524
single nucleotide variant	NM_206933.4(USH2A):c.9258+1G>A	USH2A	Pathogenic/Likely pathogenic	1	216017635	216017635	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1394380
single nucleotide variant	NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	ABCA4	Likely pathogenic	1	94480226	94480226	A	T	criteria provided, single submitter	ClinGen:CA10588919
single nucleotide variant	NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)	ABCA4	Likely pathogenic	1	94544163	94544163	G	A	criteria provided, single submitter	ClinGen:CA10588920
Duplication	NM_006269.2(RP1):c.4743dup (p.Cys1582fs)	RP1	Pathogenic	8	55541178	55541179	T	TA	criteria provided, single submitter	ClinGen:CA10602690