遺伝性圧脆弱性ニューロパチー

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
Duplication	NC_000017.10:g.(?_15133096)_(15165152_?)dup	PMP22	Pathogenic	17	15133096	15165152	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	-
Deletion	NC_000017.11:g.(?_15239461)_(15260737_?)del	PMP22	Pathogenic	17	15142778	15164054	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15134228)_(15164050_?)dup	PMP22	Pathogenic	17	15134228	15164050	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.79-2A>G	PMP22	Pathogenic	17	15162512	15162512	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.179-2A>G	PMP22	Pathogenic	17	15142930	15142930	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.319+1G>A	PMP22	Pathogenic	17	15142787	15142787	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)	PMP22	Pathogenic	17	15142893	15142893	A	G	criteria provided, single submitter	-
Deletion	NM_000304.4(PMP22):c.227del (p.Ser76fs)	PMP22	Pathogenic	17	15142880	15142880	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)	PMP22	Pathogenic	17	15142851	15142851	G	A	criteria provided, multiple submitters, no conflicts	-