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.236C>G (p.Ser79Cys)	PMP22	Pathogenic	17	15142871	15142871	G	C	criteria provided, single submitter	ClinGen:CA254385,UniProtKB:Q01453#VAR_006367,OMIM:601097.0003
single nucleotide variant	NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)	PMP22	Pathogenic	17	15142851	15142851	G	A	criteria provided, multiple submitters, no conflicts	-
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.281del (p.Gly94fs)	PMP22	Pathogenic	17	15142826	15142826	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259755,OMIM:601097.0021
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.298G>A (p.Gly100Arg)	PMP22	Pathogenic	17	15142809	15142809	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)	PMP22	Pathogenic	17	15142800	15142800	G	A	criteria provided, single submitter	-
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.318del (p.Gly107fs)	PMP22	Pathogenic	17	15142789	15142789	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.319+1G>A	PMP22	Pathogenic	17	15142787	15142787	C	T	criteria provided, single submitter	-