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
Deletion	NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)	ABCA4	Pathogenic/Likely pathogenic	1	94487206	94487206	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227242
single nucleotide variant	NM_000350.3(ABCA4):c.4854G>A (p.Trp1618Ter)	ABCA4	Pathogenic	1	94486960	94486960	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227244
single nucleotide variant	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4	Pathogenic/Likely pathogenic	1	94486895	94486895	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227254,UniProtKB:P78363#VAR_012583
single nucleotide variant	NM_000350.3(ABCA4):c.4954T>G (p.Tyr1652Asp)	ABCA4	Pathogenic	1	94486860	94486860	A	C	criteria provided, single submitter	ClinGen:CA227258,UniProtKB:P78363#VAR_008462
single nucleotide variant	NM_000350.3(ABCA4):c.4956T>G (p.Tyr1652Ter)	ABCA4	Pathogenic	1	94486858	94486858	A	C	criteria provided, single submitter	ClinGen:CA227259
single nucleotide variant	NM_000350.3(ABCA4):c.5018+2T>A	ABCA4	Pathogenic	1	94486794	94486794	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227263
single nucleotide variant	NM_000350.3(ABCA4):c.5018+2T>C	ABCA4	Pathogenic/Likely pathogenic	1	94486794	94486794	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227264
Deletion	NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	ABCA4	Pathogenic	1	94485276	94485290	TCACGCAGATGGCAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227266
single nucleotide variant	NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94485269	94485269	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227270,UniProtKB:P78363#VAR_012585
single nucleotide variant	NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)	ABCA4	Pathogenic/Likely pathogenic	1	94485247	94485247	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227272,UniProtKB:P78363#VAR_008463