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
single nucleotide variant	NM_000304.4(PMP22):c.78+1G>A	PMP22	Pathogenic	17	15163966	15163966	C	T	criteria provided, single submitter	ClinGen:CA398271648
Deletion	NC_000017.11:g.(?_15239451)_(15239631_?)del	PMP22	Pathogenic	17	15142768	15142948	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.83G>A (p.Trp28Ter)	PMP22	Pathogenic	17	15162506	15162506	C	T	criteria provided, single submitter	ClinGen:CA398271192
Duplication	NC_000017.10:g.(?_15162411)_(15406546_?)dup	PMP22	Pathogenic	17	15162411	15406546	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	-
Deletion	NM_000304.4(PMP22):c.433del (p.Leu145fs)	PMP22	Pathogenic	17	15134284	15134284	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000304.4(PMP22):c.68del (p.Thr23fs)	PMP22	Pathogenic	17	15163977	15163977	CG	C	criteria provided, single submitter	-
Duplication	Single allele	PMP22	Pathogenic	17	14087933	15500645	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)	PMP22	Pathogenic	17	15142800	15142800	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)	PMP22	Pathogenic	17	15134298	15134298	C	T	criteria provided, single submitter	-