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_031885.5(BBS2):c.535-2A>G	BBS2	Pathogenic	16	56543948	56543948	T	C	criteria provided, single submitter	ClinGen:CA395984136
single nucleotide variant	NM_015629.4(PRPF31):c.973G>T (p.Glu325Ter)	PRPF31	Pathogenic	19	54631475	54631475	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA407752948
Deletion	NM_006017.3(PROM1):c.1234del (p.Tyr412fs)	PROM1	Pathogenic/Likely pathogenic	4	16010639	16010639	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796420
single nucleotide variant	NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter)	ABCA4	Pathogenic	1	94578566	94578566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA958928
single nucleotide variant	NM_206933.4(USH2A):c.11047+1G>A	USH2A	Pathogenic	1	215940022	215940022	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609670
Deletion	NM_000350.3(ABCA4):c.5899-2del	ABCA4	Pathogenic	1	94473298	94473298	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372220
Deletion	NM_000350.3(ABCA4):c.5289del (p.Val1764fs)	ABCA4	Pathogenic/Likely pathogenic	1	94481318	94481318	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372211
single nucleotide variant	NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)	EYS	Pathogenic/Likely pathogenic	6	64431382	64431382	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA364384523
Duplication	NM_206933.2(USH2A):c.11048-?_11711+?dup	USH2A	Pathogenic	1	215914717	215933185	na	na	criteria provided, single submitter	-
Deletion	NM_206933.2(USH2A):c.4396+6857_6486-425del	USH2A	Pathogenic	1	216172825	216356708	na	na	criteria provided, single submitter	-