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.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_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.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.943C>T (p.Arg315Trp)	TRPV4	Pathogenic/Likely pathogenic	12	110236628	110236628	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117178,UniProtKB:Q9HBA0#VAR_063541,OMIM:605427.0008
single nucleotide variant	NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	TRPV4	Pathogenic	12	110222183	110222183	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117176,UniProtKB:Q9HBA0#VAR_062335,OMIM:605427.0007
single nucleotide variant	NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	TRPV4	Pathogenic/Likely pathogenic	12	110230500	110230500	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117168,UniProtKB:Q9HBA0#VAR_062333,OMIM:605427.0003
single nucleotide variant	NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)	TRPV4	Pathogenic/Likely pathogenic	12	110230201	110230201	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117166,UniProtKB:Q9HBA0#VAR_054806,OMIM:605427.0002
single nucleotide variant	NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)	TRPV4	Pathogenic	12	110230212	110230212	C	T	criteria provided, single submitter	ClinGen:CA117164,UniProtKB:Q9HBA0#VAR_054805,OMIM:605427.0001
single nucleotide variant	NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)	TRIM2	Likely pathogenic	4	154245278	154245278	A	C	criteria provided, single submitter	ClinGen:CA10584080,OMIM:614141.0003
Duplication	NM_003172.4(SURF1):c.281dup (p.Leu94fs)	SURF1	Pathogenic/Likely pathogenic	9	136221555	136221556	C	CA	criteria provided, multiple submitters, no conflicts	-