網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	TULP1	Likely pathogenic	6	35467877	35467877	A	T	criteria provided, single submitter	ClinGen:CA254155,UniProtKB:O00294#VAR_007942,OMIM:602280.0003
Deletion	NM_006915.3(RP2):c.16_18del (p.Ser6del)	RP2	Likely pathogenic	X	46696550	46696552	TCTC	T	criteria provided, single submitter	ClinGen:CA255297,OMIM:300757.0001
single nucleotide variant	NM_000539.3(RHO):c.260T>A (p.Val87Asp)	RHO	Likely pathogenic	3	129247836	129247836	T	A	criteria provided, single submitter	ClinGen:CA256667,UniProtKB:P08100#VAR_004781,OMIM:180380.0008
single nucleotide variant	NM_000539.3(RHO):c.632A>C (p.His211Pro)	RHO	Likely pathogenic	3	129251195	129251195	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256674,UniProtKB:P08100#VAR_004818,OMIM:180380.0018
single nucleotide variant	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	RHO	Likely pathogenic	3	129247857	129247857	C	T	criteria provided, single submitter	ClinGen:CA122825,UniProtKB:P08100#VAR_004784,OMIM:180380.0042
single nucleotide variant	NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)	PDE6A	Likely pathogenic	5	149274791	149274791	C	T	criteria provided, single submitter	ClinGen:CA256728,OMIM:180071.0003
Deletion	NM_003611.3(OFD1):c.1220_1221+1del	OFD1	Likely pathogenic	X	13773359	13773361	TGAG	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.11231+1G>T	USH2A	Likely pathogenic	1	215933001	215933001	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262067
single nucleotide variant	NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys)	USH2A	Likely pathogenic	1	216497611	216497611	C	G	criteria provided, single submitter	ClinGen:CA262075
single nucleotide variant	NM_206933.4(USH2A):c.3158-6A>G	USH2A	Likely pathogenic	1	216380779	216380779	T	C	criteria provided, single submitter	ClinGen:CA143458