遺伝性圧脆弱性ニューロパチー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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
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.431C>G (p.Pro144Arg)	PMP22	Likely pathogenic	17	15134286	15134286	G	C	criteria provided, single submitter	ClinGen:CA398739549
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.390C>G (p.Tyr130Ter)	PMP22	Likely pathogenic	17	15134327	15134327	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398739656
single nucleotide variant	NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)	PMP22	Likely pathogenic	17	15134299	15134299	A	T	criteria provided, multiple submitters, no conflicts	-
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