シャルコー・マリー・トゥース病

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_001540.5(HSPB1):c.404C>T (p.Ser135Phe)	HSPB1	Pathogenic	7	75933158	75933158	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA118820,UniProtKB:P04792#VAR_018507,OMIM:602195.0001
single nucleotide variant	NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)	HSPB1	Pathogenic	7	75933133	75933133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA118822,UniProtKB:P04792#VAR_018506,OMIM:602195.0002
single nucleotide variant	NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)	HSPB1	Pathogenic	7	75933160	75933160	C	T	criteria provided, single submitter	ClinGen:CA254190,UniProtKB:P04792#VAR_018508,OMIM:602195.0005
single nucleotide variant	NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)	HSPB1	Pathogenic/Likely pathogenic	7	75933416	75933416	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA118828,OMIM:602195.0006
single nucleotide variant	NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	HSPB1	Pathogenic	7	75933172	75933172	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA118831,OMIM:602195.0007
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