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.390C>G (p.Tyr130Ter)	PMP22	Likely pathogenic	17	15134327	15134327	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398739656
single nucleotide variant	NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)	PMP22	Pathogenic	17	15134345	15134345	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)	PMP22	Pathogenic	17	15134390	15134390	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279101
single nucleotide variant	NM_000304.4(PMP22):c.320G>T (p.Gly107Val)	PMP22	Pathogenic/Likely pathogenic	17	15134397	15134397	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000304.4(PMP22):c.319+1G>A	PMP22	Pathogenic	17	15142787	15142787	C	T	criteria provided, single submitter	-
Deletion	NM_000304.4(PMP22):c.318del (p.Gly107fs)	PMP22	Pathogenic	17	15142789	15142789	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.308A>G (p.Gln103Arg)	PMP22	Pathogenic/Likely pathogenic	17	15142799	15142799	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334032
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.298G>A (p.Gly100Arg)	PMP22	Pathogenic	17	15142809	15142809	C	T	criteria provided, single submitter	-
Duplication	NM_000304.4(PMP22):c.281dup (p.Arg95fs)	PMP22	Pathogenic/Likely pathogenic	17	15142825	15142826	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA277605,OMIM:601097.0011