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.10612C>T (p.Arg3538Ter)	USH2A	Pathogenic	1	215955512	215955512	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581638
single nucleotide variant	NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)	USH2A	Pathogenic	1	216373453	216373453	G	T	criteria provided, single submitter	ClinGen:CA10581644
single nucleotide variant	NM_206933.4(USH2A):c.3158-2A>G	USH2A	Pathogenic	1	216380775	216380775	T	C	criteria provided, single submitter	ClinGen:CA10581645
Deletion	NM_206933.4(USH2A):c.1558del (p.Cys520fs)	USH2A	Pathogenic/Likely pathogenic	1	216495311	216495311	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581647
single nucleotide variant	NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn)	ABCA4	Likely pathogenic	1	94520688	94520688	A	T	criteria provided, single submitter	ClinGen:CA10581651
single nucleotide variant	NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)	MERTK	Pathogenic	2	112777090	112777090	G	A	criteria provided, single submitter	ClinGen:CA10581654
single nucleotide variant	NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)	MERTK	Likely pathogenic	2	112779111	112779111	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581655
Deletion	NM_201548.5(CERKL):c.967_968del (p.Met323fs)	CERKL	Pathogenic	2	182413512	182413513	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA501215
single nucleotide variant	NM_201548.5(CERKL):c.193G>T (p.Glu65Ter)	CERKL	Pathogenic	2	182521541	182521541	C	A	criteria provided, single submitter	ClinGen:CA2010928
single nucleotide variant	NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)	FAM161A	Pathogenic	2	62066675	62066675	C	T	criteria provided, single submitter	ClinGen:CA10581656