遺伝性圧脆弱性ニューロパチー

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	Single allele	PMP22	Pathogenic	17	14087933	15500645	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_14139889)_(15406546_?)dup	PMP22	Pathogenic	17	14139889	15406546	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15162411)_(15406546_?)dup	PMP22	Pathogenic	17	15162411	15406546	na	na	criteria provided, single submitter	-
copy number gain	GRCh37/hg19 17p12(chr17:14413312-15169915)x3	PMP22	Pathogenic	17	14413312	15169915	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 17p12(chr17:15133960-15169915)x1	PMP22	Pathogenic	17	15133960	15169915	na	na	criteria provided, single submitter	-
copy number gain	GRCh37/hg19 17p12(chr17:15133960-15169915)x3	PMP22	Pathogenic	17	15133960	15169915	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15133096)_(15165152_?)dup	PMP22	Pathogenic	17	15133096	15165152	na	na	criteria provided, single submitter	-
Duplication	NM_000304.3(PMP22):c.-34-?_*1140dup1657	PMP22	Pathogenic	17	15133094	15164078	na	na	criteria provided, single submitter	-
Deletion	NM_000304.3(PMP22):c.-34-?_*1140del	PMP22	Pathogenic	17	15133094	15164078	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15142778)_(15164054_?)dup	PMP22	Pathogenic	17	15142778	15164054	na	na	criteria provided, single submitter	-