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.179-2A>G	PMP22	Pathogenic	17	15142930	15142930	T	C	criteria provided, single submitter	-
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.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.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.214T>C (p.Ser72Pro)	PMP22	Pathogenic	17	15142893	15142893	A	G	criteria provided, single submitter	-
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.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.227del (p.Ser76fs)	PMP22	Pathogenic	17	15142880	15142880	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.228C>G (p.Ser76Arg)	PMP22	Likely pathogenic	17	15142879	15142879	G	C	criteria provided, single submitter	ClinGen:CA398268148
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