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.215C>T (p.Ser72Leu)	PMP22	Pathogenic	17	15142892	15142892	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119620,UniProtKB:Q01453#VAR_006363,OMIM:601097.0007
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.327C>A (p.Cys109Ter)	PMP22	Pathogenic	17	15134390	15134390	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279101
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.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
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	-