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_206933.4(USH2A):c.5857+2T>C	USH2A	Likely pathogenic	1	216246229	216246229	A	G	reviewed by expert panel	ClinGen:CA262109
single nucleotide variant	NM_017739.4(POMGNT1):c.879+5G>T	POMGNT1	Likely pathogenic	1	46659941	46659941	C	A	criteria provided, single submitter	ClinGen:CA263991
Duplication	NM_017739.4(POMGNT1):c.982dup (p.Val328fs)	POMGNT1	Likely pathogenic	1	46659279	46659280	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA263992
single nucleotide variant	NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	ARL6	Likely pathogenic	3	97503816	97503816	T	C	criteria provided, single submitter	ClinGen:CA280042
Deletion	NM_201548.5(CERKL):c.420del (p.Ile141fs)	CERKL	Likely pathogenic	2	182468625	182468625	TA	T	criteria provided, single submitter	ClinGen:CA266216,OMIM:608381.0002
single nucleotide variant	NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)	RPGR	Likely pathogenic	X	38164016	38164016	C	T	criteria provided, single submitter	ClinGen:CA220676
single nucleotide variant	NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	PRPH2	Likely pathogenic	6	42672195	42672195	A	G	criteria provided, single submitter	ClinGen:CA226307
single nucleotide variant	NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg)	RPGR	Likely pathogenic	X	38182679	38182679	C	T	criteria provided, single submitter	ClinGen:CA226350,UniProtKB:Q92834#VAR_018058
single nucleotide variant	NM_001034853.2(RPGR):c.1573-8A>G	RPGR	Likely pathogenic	X	38147302	38147302	T	C	criteria provided, single submitter	ClinGen:CA226372
single nucleotide variant	NM_001034853.2(RPGR):c.28+5G>A	RPGR	Likely pathogenic	X	38186588	38186588	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226401