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.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.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.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.448G>C (p.Gly150Arg)	PMP22	Pathogenic/Likely pathogenic	17	15134269	15134269	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607534
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
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.308A>G (p.Gln103Arg)	PMP22	Pathogenic/Likely pathogenic	17	15142799	15142799	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334032
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
single nucleotide variant	NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	PMP22	Pathogenic/Likely pathogenic	17	15142908	15142908	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340786,UniProtKB:Q01453#VAR_009661,OMIM:601097.0010
single nucleotide variant	NM_000304.4(PMP22):c.36C>A (p.His12Gln)	PMP22	Pathogenic/Likely pathogenic	17	15164009	15164009	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119622,UniProtKB:Q01453#VAR_006359,OMIM:601097.0008