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_206933.4(USH2A):c.4125del (p.Tyr1376fs)	USH2A	Pathogenic	1	216370021	216370021	AC	A	criteria provided, single submitter	ClinGen:CA16617059
single nucleotide variant	NM_206933.4(USH2A):c.3959C>A (p.Pro1320His)	USH2A	Likely pathogenic	1	216371779	216371779	G	T	criteria provided, single submitter	ClinGen:CA1395862
single nucleotide variant	NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)	USH2A	Pathogenic/Likely pathogenic	1	216373273	216373273	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617060
single nucleotide variant	NM_206933.4(USH2A):c.2384G>A (p.Cys795Tyr)	USH2A	Likely pathogenic	1	216420352	216420352	C	T	criteria provided, single submitter	ClinGen:CA1396239
single nucleotide variant	NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	USH2A	Likely pathogenic	1	216424331	216424331	C	T	reviewed by expert panel	ClinGen:CA1396311
single nucleotide variant	NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	RPE65	Likely pathogenic	1	68897059	68897059	G	A	criteria provided, single submitter	ClinGen:CA16617183
single nucleotide variant	NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val)	ABCA4	Likely pathogenic	1	94466660	94466660	T	A	criteria provided, single submitter	ClinGen:CA16617199
single nucleotide variant	NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	ABCA4	Pathogenic/Likely pathogenic	1	94473263	94473263	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617200
single nucleotide variant	NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His)	ABCA4	Pathogenic/Likely pathogenic	1	94495008	94495008	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617202
single nucleotide variant	NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)	ABCA4	Pathogenic	1	94496010	94496010	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957653