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_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)	FAM161A	Pathogenic/Likely pathogenic	2	62067292	62067292	G	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs)	PRPH2	Likely pathogenic	6	42689607	42689608	T	TGA	criteria provided, single submitter	-
single nucleotide variant	NM_001563.4(IMPG1):c.1291+1G>T	IMPG1	Pathogenic/Likely pathogenic	6	76712634	76712634	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.255del (p.Lys85fs)	RPGR	Pathogenic/Likely pathogenic	X	38180335	38180335	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)	RPGR	Pathogenic/Likely pathogenic	X	38182673	38182673	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006915.3(RP2):c.365G>A (p.Cys122Tyr)	RP2	Pathogenic/Likely pathogenic	X	46713173	46713173	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003322.6(TULP1):c.524dup (p.Pro176fs)	TULP1	Pathogenic	6	35477680	35477681	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9919T>A (p.Cys3307Ser)	USH2A	Likely pathogenic	1	215972288	215972288	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_004183.4(BEST1):c.241G>A (p.Val81Met)	BEST1	Pathogenic/Likely pathogenic	11	61722667	61722667	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)	CNGA1	Pathogenic	4	47954625	47954625	G	A	criteria provided, multiple submitters, no conflicts	-