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
Duplication	NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)	USH2A	Likely pathogenic	1	215813899	215813900	C	CTTTT	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.14679del (p.Ala4894fs)	USH2A	Likely pathogenic	1	215820976	215820976	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.14344-1G>A	USH2A	Likely pathogenic	1	215822109	215822109	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)	USH2A	Pathogenic	1	215847632	215847632	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	USH2A	Pathogenic/Likely pathogenic	1	215848138	215848141	CATTT	C	criteria provided, multiple submitters, no conflicts	OMIM:608400.0017
Deletion	NM_206933.4(USH2A):c.12602del (p.Gly4201fs)	USH2A	Likely pathogenic	1	215848651	215848651	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)	USH2A	Likely pathogenic	1	215802263	215802263	G	A	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.15322del (p.Arg5108fs)	USH2A	Pathogenic/Likely pathogenic	1	215802353	215802353	CG	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)	USH2A	Likely pathogenic	1	215901703	215901704	T	TC	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)	USH2A	Pathogenic/Likely pathogenic	1	215822049	215822050	AGT	A	criteria provided, multiple submitters, no conflicts	-