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>A (p.Arg269Ser)	TRPV4	Likely pathogenic	12	110238471	110238471	G	T	criteria provided, single submitter	ClinGen:CA386655325
single nucleotide variant	NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser)	TRPV4	Likely pathogenic	12	110238434	110238434	T	G	criteria provided, single submitter	ClinGen:CA386655250
single nucleotide variant	NM_021625.5(TRPV4):c.2204T>G (p.Leu735Arg)	TRPV4	Pathogenic	12	110226209	110226209	A	C	criteria provided, single submitter	ClinGen:CA386649807
single nucleotide variant	NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp)	TRPV4	Likely pathogenic	12	110222180	110222180	C	T	criteria provided, single submitter	ClinGen:CA386648807
single nucleotide variant	NM_021625.5(TRPV4):c.946C>A (p.Arg316Ser)	TRPV4	Likely pathogenic	12	110236625	110236625	G	T	criteria provided, single submitter	ClinGen:CA16619426
single nucleotide variant	NM_021625.5(TRPV4):c.2401A>G (p.Lys801Glu)	TRPV4	Likely pathogenic	12	110222178	110222178	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619425
single nucleotide variant	NM_021625.5(TRPV4):c.290C>G (p.Pro97Arg)	TRPV4	Likely pathogenic	12	110252312	110252312	G	C	criteria provided, single submitter	ClinGen:CA10577435,UniProtKB:Q9HBA0#VAR_067989
single nucleotide variant	NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr)	TRPV4	Likely pathogenic	12	110236579	110236579	A	G	criteria provided, single submitter	ClinGen:CA347702,UniProtKB:Q9HBA0#VAR_064523
single nucleotide variant	NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro)	TRPV4	Pathogenic	12	110230206	110230206	A	G	criteria provided, single submitter	ClinGen:CA347744,UniProtKB:Q9HBA0#VAR_064532,OMIM:605427.0035
single nucleotide variant	NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)	TRPV4	Likely pathogenic	12	110230208	110230208	G	T	criteria provided, single submitter	UniProtKB:Q9HBA0#VAR_064531,ClinGen:CA347704