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
copy number gain	GRCh37/hg19 17p12(chr17:15133960-15169915)x3	PMP22	Pathogenic	17	15133960	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(chr17:14413312-15169915)x3	PMP22	Pathogenic	17	14413312	15169915	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.117G>A (p.Trp39Ter)	PMP22	Pathogenic	17	15162472	15162472	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604162
single nucleotide variant	NM_000304.4(PMP22):c.448G>C (p.Gly150Arg)	PMP22	Pathogenic/Likely pathogenic	17	15134269	15134269	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607534
single nucleotide variant	NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	PMP22	Pathogenic	17	15134268	15134268	C	A	criteria provided, single submitter	ClinGen:CA398739500
single nucleotide variant	NM_000304.4(PMP22):c.431C>G (p.Pro144Arg)	PMP22	Likely pathogenic	17	15134286	15134286	G	C	criteria provided, single submitter	ClinGen:CA398739549
single nucleotide variant	NM_000304.4(PMP22):c.228C>G (p.Ser76Arg)	PMP22	Likely pathogenic	17	15142879	15142879	G	C	criteria provided, single submitter	ClinGen:CA398268148
Duplication	NC_000017.10:g.(?_15134214)_(15162530_?)dup	PMP22	Pathogenic	17	15134214	15162530	na	na	criteria provided, single submitter	-
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