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_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)	ZNF408	Pathogenic/Likely pathogenic	11	46726871	46726871	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204009,UniProtKB:Q9H9D4#VAR_074615,OMIM:616454.0004
single nucleotide variant	NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr)	ZNF408	Likely pathogenic	11	46726613	46726613	C	T	criteria provided, single submitter	OMIM:616454.0001,ClinGen:CA204005,UniProtKB:Q9H9D4#VAR_074613
Deletion	NM_206933.4(USH2A):c.486-1_625del	USH2A	Likely pathogenic	1	216591882	216592022	TTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.6325+1G>A	USH2A	Pathogenic	1	216219772	216219772	C	T	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_216292165)_(216327664_?)del	USH2A	Pathogenic	1	216465507	216501006	na	na	criteria provided, single submitter	-
Duplication	NC_000001.10:g.(?_215914707)_(215933195_?)dup	USH2A	Pathogenic	1	215914707	215933195	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_216078079)_(216078372_?)del	USH2A	Pathogenic	1	216251421	216251714	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter)	USH2A	Pathogenic	1	216497610	216497610	C	A	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.3004del (p.Cys1002fs)	USH2A	Pathogenic	1	216390882	216390882	CA	C	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.3224_3225dup (p.Pro1076fs)	USH2A	Pathogenic	1	216380705	216380706	G	GAC	criteria provided, single submitter	-