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.418T>A (p.Trp140Arg)	PMP22	Likely pathogenic	17	15134299	15134299	A	T	criteria provided, multiple submitters, no conflicts	-
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.320G>T (p.Gly107Val)	PMP22	Pathogenic/Likely pathogenic	17	15134397	15134397	C	A	criteria provided, multiple submitters, no conflicts	-
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.298G>A (p.Gly100Arg)	PMP22	Pathogenic	17	15142809	15142809	C	T	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	-
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.215C>G (p.Ser72Trp)	PMP22	Pathogenic/Likely pathogenic	17	15142892	15142892	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)	PMP22	Pathogenic	17	15142893	15142893	A	G	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	-