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.308A>G (p.Gln103Arg)	PMP22	Pathogenic/Likely pathogenic	17	15142799	15142799	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334032
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
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.235T>A (p.Ser79Thr)	PMP22	Likely pathogenic	17	15142872	15142872	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279110
Indel	NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs)	PMP22	Pathogenic	17	15142826	15142827	CC	A	criteria provided, single submitter	ClinGen:CA350485
Deletion	NM_000304.4(PMP22):c.138del (p.Ser47fs)	PMP22	Pathogenic/Likely pathogenic	17	15162451	15162451	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350118
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_000304.3(PMP22):c.-34-?_*1140del	PMP22	Pathogenic	17	15133094	15164078	na	na	criteria provided, single submitter	-
Duplication	NM_000304.3(PMP22):c.-34-?_*1140dup1657	PMP22	Pathogenic	17	15133094	15164078	na	na	criteria provided, single submitter	-
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