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
Deletion	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	FAM161A	Pathogenic/Likely pathogenic	2	62066638	62066638	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)	CLRN1	Likely pathogenic	3	150645881	150645881	G	A	criteria provided, single submitter	-
Deletion	NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)	CLRN1	Likely pathogenic	3	150690342	150690345	TGCCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)	CLRN1	Likely pathogenic	3	150690456	150690456	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter)	CLRN1	Likely pathogenic	3	150690312	150690312	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)	CLRN1	Likely pathogenic	3	150690494	150690494	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_174878.3(CLRN1):c.372del (p.Phe124fs)	CLRN1	Likely pathogenic	3	150659430	150659430	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)	CLRN1	Likely pathogenic	3	150690493	150690493	C	T	criteria provided, single submitter	-
Deletion	NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	EYS	Pathogenic/Likely pathogenic	6	64430591	64430610	TAATTTTGCCAACAAAATTGG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	EYS	Pathogenic/Likely pathogenic	6	64431272	64431279	TTCTGCATG	T	criteria provided, multiple submitters, no conflicts	-