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.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.138del (p.Ser47fs)	PMP22	Pathogenic/Likely pathogenic	17	15162451	15162451	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350118
Indel	NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs)	PMP22	Pathogenic	17	15142826	15142827	CC	A	criteria provided, single submitter	ClinGen:CA350485
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
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
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
Deletion	NM_000304.4(PMP22):c.281del (p.Gly94fs)	PMP22	Pathogenic	17	15142826	15142826	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259755,OMIM:601097.0021
single nucleotide variant	NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	PMP22	Likely pathogenic	17	15142908	15142908	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254388,UniProtKB:Q01453#VAR_029965,OMIM:601097.0017
single nucleotide variant	NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)	PMP22	Likely pathogenic	17	15162507	15162507	A	G	criteria provided, single submitter	ClinGen:CA342724,UniProtKB:Q01453#VAR_029963,OMIM:601097.0014