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.1497G>A (p.Trp499Ter)	ABCA4	Pathogenic	1	94543303	94543303	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341281905
single nucleotide variant	NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)	ABCA4	Pathogenic/Likely pathogenic	1	94546115	94546115	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA26870533
Deletion	NM_000350.3(ABCA4):c.885del (p.Leu296fs)	ABCA4	Pathogenic	1	94546248	94546248	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA958684
single nucleotide variant	NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)	ABCA4	Pathogenic	1	94564406	94564406	G	A	criteria provided, single submitter	ClinGen:CA341289200
single nucleotide variant	NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	MERTK	Pathogenic/Likely pathogenic	2	112777074	112777074	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1831727
single nucleotide variant	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE	Pathogenic/Likely pathogenic	2	29294126	29294126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1592053
single nucleotide variant	NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)	PCARE	Pathogenic	2	29296370	29296370	C	T	criteria provided, single submitter	ClinGen:CA1592578
Deletion	NM_001201543.2(FAM161A):c.782del (p.Asp261fs)	FAM161A	Pathogenic	2	62067357	62067357	AT	A	criteria provided, single submitter	ClinGen:CA533181504
Duplication	NM_016247.4(IMPG2):c.3023-6_3030dup	IMPG2	Pathogenic/Likely pathogenic	3	100951827	100951828	C	CTTCATCACCTAAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA2518842
single nucleotide variant	NM_000539.3(RHO):c.83A>G (p.Gln28Arg)	RHO	Pathogenic	3	129247659	129247659	A	G	criteria provided, single submitter	ClinGen:CA354495583