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.920G>A (p.Trp307Ter)	SH3TC2	Pathogenic	5	148417939	148417939	C	T	criteria provided, single submitter	ClinGen:CA342391
single nucleotide variant	NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)	MPZ	Likely pathogenic	1	161276564	161276564	C	T	criteria provided, single submitter	UniProtKB:P25189#VAR_004533,OMIM:159440.0015,ClinVar:14180
single nucleotide variant	NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)	DYNC1H1	Pathogenic/Likely pathogenic	14	102446843	102446843	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA144804,UniProtKB:Q14204#VAR_066651,OMIM:600112.0001
Deletion	NM_000304.4(PMP22):c.281del (p.Gly94fs)	PMP22	Pathogenic	17	15142826	15142826	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259755,OMIM:601097.0021
single nucleotide variant	NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)	TRPV4	Pathogenic	12	110231365	110231365	G	T	criteria provided, single submitter	ClinGen:CA259819,UniProtKB:Q9HBA0#VAR_067993,OMIM:605427.0022
single nucleotide variant	NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile)	TRPV4	Pathogenic	12	110252336	110252336	G	A	criteria provided, single submitter	ClinGen:CA129242,UniProtKB:Q9HBA0#VAR_064517,OMIM:605427.0023
single nucleotide variant	NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)	TRPV4	Pathogenic	12	110240814	110240814	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA204953,UniProtKB:Q9HBA0#VAR_067990,OMIM:605427.0025
single nucleotide variant	NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	TRPV4	Pathogenic/Likely pathogenic	12	110236624	110236624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259821,UniProtKB:Q9HBA0#VAR_067991,OMIM:605427.0026
single nucleotide variant	NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu)	TRPV4	Pathogenic	12	110238450	110238450	T	C	criteria provided, single submitter	ClinGen:CA129254,OMIM:605427.0029
single nucleotide variant	NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)	MFN2	Pathogenic	1	12058874	12058874	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA129420,UniProtKB:O95140#VAR_076896,OMIM:608507.0017