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
Deletion	NM_182916.3(TRNT1):c.1252del (p.Ser418fs)	TRNT1	Pathogenic	3	3189779	3189779	GA	G	criteria provided, single submitter	ClinGen:CA10581122,OMIM:612907.0007
Duplication	NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)	TRNT1	Pathogenic/Likely pathogenic	3	3189778	3189779	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA2228924,OMIM:612907.0009
single nucleotide variant	NM_182916.3(TRNT1):c.609-26T>C	TRNT1	Pathogenic	3	3188088	3188088	T	C	criteria provided, single submitter	ClinGen:CA10581123,OMIM:612907.0010
Deletion	NM_206933.4(USH2A):c.9685del (p.Glu3229fs)	USH2A	Pathogenic	1	215987132	215987132	TC	T	criteria provided, single submitter	ClinGen:CA10581501
single nucleotide variant	NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)	USH2A	Pathogenic/Likely pathogenic	1	216373412	216373412	T	C	criteria provided, multiple submitters, no conflicts	ClinVar:424815,ClinGen:CA1396001
single nucleotide variant	NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)	ABCA4	Likely pathogenic	1	94463433	94463433	T	C	criteria provided, single submitter	ClinGen:CA10602404
single nucleotide variant	NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	ABCA4	Pathogenic	1	94463499	94463499	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602405,UniProtKB:P78363#VAR_012614
single nucleotide variant	NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94466618	94466618	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602407
Indel	NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG	ABCA4	Pathogenic	1	94466663	94466664	TG	CT	criteria provided, single submitter	ClinGen:CA10602408
single nucleotide variant	NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln)	ABCA4	Pathogenic/Likely pathogenic	1	94467466	94467466	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602409