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.47T>C (p.Leu16Pro)	PMP22	Pathogenic	17	15163998	15163998	A	G	criteria provided, single submitter	ClinGen:CA340784,UniProtKB:Q01453#VAR_006360,OMIM:601097.0002
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.206T>A (p.Met69Lys)	PMP22	Pathogenic	17	15142901	15142901	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119618,UniProtKB:Q01453#VAR_006362,OMIM:601097.0006
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
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
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
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.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
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
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