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_000350.3(ABCA4):c.67-1G>C	ABCA4	Pathogenic	1	94578623	94578623	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602459
Insertion	NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)	CRB1	Pathogenic	1	197390570	197390571	C	CCTTA	criteria provided, single submitter	ClinGen:CA10581627
single nucleotide variant	NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	CRB1	Pathogenic/Likely pathogenic	1	197396763	197396763	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1312098
single nucleotide variant	NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)	CRB1	Pathogenic	1	197403862	197403862	C	T	criteria provided, single submitter	ClinGen:CA10581631
single nucleotide variant	NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)	CRB1	Pathogenic	1	197404010	197404010	C	T	criteria provided, single submitter	ClinGen:CA10581632
single nucleotide variant	NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)	USH2A	Pathogenic	1	215822102	215822102	C	A	criteria provided, single submitter	ClinGen:CA10581634
single nucleotide variant	NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)	USH2A	Pathogenic	1	215853690	215853690	C	A	criteria provided, single submitter	ClinGen:CA10581636
single nucleotide variant	NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	USH2A	Likely pathogenic	1	215901725	215901725	G	A	reviewed by expert panel	ClinGen:CA1393629
single nucleotide variant	NM_206933.4(USH2A):c.11549-1G>A	USH2A	Pathogenic	1	215914880	215914880	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581637
single nucleotide variant	NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)	USH2A	Likely pathogenic	1	215940074	215940074	A	C	criteria provided, single submitter	ClinGen:CA1393856