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_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	SH3TC2	Pathogenic/Likely pathogenic	5	148406435	148406435	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA115573,OMIM:608206.0005
single nucleotide variant	NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	SH3TC2	Pathogenic	5	148389835	148389835	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339991,OMIM:608206.0006
single nucleotide variant	NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)	HSPB8	Pathogenic	12	119624883	119624883	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA115644,UniProtKB:Q9UJY1#VAR_018504,OMIM:608014.0002
single nucleotide variant	NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)	HSPB8	Pathogenic	12	119624885	119624885	G	T	criteria provided, single submitter	ClinGen:CA252366,UniProtKB:Q9UJY1#VAR_018505,OMIM:608014.0003
single nucleotide variant	NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)	SBF2	Pathogenic	11	9853837	9853837	G	A	criteria provided, single submitter	ClinGen:CA115865,OMIM:607697.0003
single nucleotide variant	NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)	SBF2	Pathogenic	11	9990029	9990029	G	A	criteria provided, multiple submitters, no conflicts	OMIM:607697.0004,ClinGen:CA115868
single nucleotide variant	NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)	GDAP1	Pathogenic	8	75275175	75275175	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116683,OMIM:606598.0002
single nucleotide variant	NM_018972.4(GDAP1):c.482G>A (p.Arg161His)	GDAP1	Pathogenic/Likely pathogenic	8	75272543	75272543	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116685,UniProtKB:Q8TB36#VAR_017185,OMIM:606598.0003
single nucleotide variant	NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	GDAP1	Pathogenic	8	75274121	75274121	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116686,OMIM:606598.0004
single nucleotide variant	NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)	GDAP1	Pathogenic	8	75276369	75276369	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116688,UniProtKB:Q8TB36#VAR_017186,OMIM:606598.0006