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.926C>G (p.Pro309Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94546207	94546207	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227468,UniProtKB:P78363#VAR_012512
single nucleotide variant	NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)	ABCA4	Pathogenic	1	94546151	94546151	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227475
single nucleotide variant	NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)	ABCA4	Pathogenic	1	94546150	94546150	T	A	criteria provided, single submitter	ClinGen:CA227477,UniProtKB:P78363#VAR_012513
single nucleotide variant	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	TULP1	Pathogenic	6	35467787	35467787	T	C	criteria provided, single submitter	UniProtKB:O00294#VAR_008280,ClinGen:CA227705
single nucleotide variant	NM_003322.6(TULP1):c.1495+1G>A	TULP1	Pathogenic	6	35467757	35467757	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227708,OMIM:602280.0005
single nucleotide variant	NM_003322.6(TULP1):c.1496-6C>A	TULP1	Pathogenic/Likely pathogenic	6	35466243	35466243	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227709
Deletion	NM_003322.6(TULP1):c.901del (p.Gln301fs)	TULP1	Pathogenic	6	35473878	35473878	TG	T	criteria provided, single submitter	ClinGen:CA227718
single nucleotide variant	NM_003322.6(TULP1):c.99+1G>A	TULP1	Pathogenic/Likely pathogenic	6	35480415	35480415	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227719,OMIM:602280.0004
single nucleotide variant	NM_004183.4(BEST1):c.17C>G (p.Thr6Arg)	BEST1	Pathogenic/Likely pathogenic	11	61719295	61719295	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227739,UniProtKB:O76090#VAR_017366
single nucleotide variant	NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)	BEST1	Pathogenic/Likely pathogenic	11	61722666	61722666	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227745,UniProtKB:O76090#VAR_017373