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.13466G>A (p.Gly4489Asp)	USH2A	Likely pathogenic	1	215847787	215847787	C	T	criteria provided, single submitter	ClinGen:CA270141
single nucleotide variant	NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)	USH2A	Pathogenic/Likely pathogenic	1	215844600	215844600	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270143,UniProtKB:O75445#VAR_072050
single nucleotide variant	NM_206933.4(USH2A):c.490G>T (p.Val164Phe)	USH2A	Likely pathogenic	1	216592017	216592017	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270157
single nucleotide variant	NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg)	USH2A	Pathogenic	1	215972456	215972456	A	G	criteria provided, single submitter	ClinGen:CA270162,UniProtKB:O75445#VAR_054598
single nucleotide variant	NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)	TRNT1	Pathogenic	3	3188173	3188173	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA249570,UniProtKB:Q96Q11#VAR_072425,OMIM:612907.0002
Deletion	NM_003611.3(OFD1):c.1332del (p.Lys444fs)	OFD1	Pathogenic	X	13774805	13774805	GA	G	criteria provided, single submitter	ClinGen:CA233303
Duplication	NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)	BEST1	Pathogenic	11	61722596	61722597	A	AAC	criteria provided, single submitter	ClinGen:CA273043
Deletion	NM_206933.2(USH2A):c.(?_5299)_(5572_?)del	USH2A	Pathogenic	1	216251431	216251704	na	na	criteria provided, single submitter	-
Duplication	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A	Pathogenic	1	216348710	216348711	C	CT	reviewed by expert panel	ClinGen:CA273289
Deletion	NM_206933.2(USH2A):c.(?_8682)_(8845_?)del	USH2A	Pathogenic	1	216040349	216040512	na	na	criteria provided, single submitter	-