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.449G>A (p.Gly150Asp)	PMP22	Pathogenic	17	15134268	15134268	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584542,UniProtKB:Q01453#VAR_006379
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.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.447C>A (p.Ser149Arg)	PMP22	Pathogenic	17	15134270	15134270	G	T	criteria provided, single submitter	ClinGen:CA10577555,UniProtKB:Q01453#VAR_029970
Deletion	NM_000304.4(PMP22):c.434del (p.Leu145fs)	PMP22	Pathogenic/Likely pathogenic	17	15134283	15134283	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279068
Deletion	NM_000304.4(PMP22):c.433del (p.Leu145fs)	PMP22	Pathogenic	17	15134284	15134284	AG	A	criteria provided, multiple submitters, no conflicts	-
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.420G>A (p.Trp140Ter)	PMP22	Pathogenic/Likely pathogenic	17	15134297	15134297	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)	PMP22	Pathogenic	17	15134298	15134298	C	T	criteria provided, single submitter	-
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	-