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_021625.5(TRPV4):c.806G>A (p.Arg269His)	TRPV4	Pathogenic/Likely pathogenic	12	110238470	110238470	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117180,UniProtKB:Q9HBA0#VAR_063529,OMIM:605427.0009
single nucleotide variant	NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)	TRPV4	Pathogenic	12	110236625	110236625	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117182,UniProtKB:Q9HBA0#VAR_063530,OMIM:605427.0010
single nucleotide variant	NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)	TRPV4	Pathogenic	12	110238471	110238471	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130778,UniProtKB:Q9HBA0#VAR_063528,OMIM:605427.0011
single nucleotide variant	NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)	NDRG1	Pathogenic	8	134270617	134270617	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340338,OMIM:605262.0001
single nucleotide variant	NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)	LITAF	Pathogenic	16	11647432	11647432	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340507,UniProtKB:Q99732#VAR_024017,OMIM:603795.0001
single nucleotide variant	NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)	LITAF	Pathogenic/Likely pathogenic	16	11647422	11647422	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340511,UniProtKB:Q99732#VAR_024018,OMIM:603795.0002
single nucleotide variant	NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)	LITAF	Pathogenic	16	11647420	11647420	A	C	criteria provided, single submitter	ClinGen:CA340515,UniProtKB:Q99732#VAR_024019,OMIM:603795.0003
single nucleotide variant	NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)	YARS1	Pathogenic	1	33276595	33276595	C	T	criteria provided, single submitter	ClinGen:CA118052,UniProtKB:P54577#VAR_026681,OMIM:603623.0001
single nucleotide variant	NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)	YARS1	Pathogenic	1	33263369	33263369	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA118054,UniProtKB:P54577#VAR_026684,OMIM:603623.0002
single nucleotide variant	NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)	MTMR2	Pathogenic	11	95578227	95578227	G	A	criteria provided, single submitter	ClinGen:CA253823,OMIM:603557.0001