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
Deletion	NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)	TRPV4	Pathogenic/Likely pathogenic	12	110232211	110232213	TAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347802,OMIM:605427.0016
single nucleotide variant	NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)	TRPV4	Pathogenic	12	110234443	110234443	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347755
single nucleotide variant	NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)	TRPV4	Pathogenic/Likely pathogenic	12	110246103	110246103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204955,OMIM:605427.0033
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_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.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.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.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.2389G>A (p.Glu797Lys)	TRPV4	Pathogenic	12	110222190	110222190	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117195,UniProtKB:Q9HBA0#VAR_064537,OMIM:605427.0018
single nucleotide variant	NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)	TRPV4	Pathogenic	12	110238444	110238444	C	T	criteria provided, single submitter	OMIM:605427.0017,ClinGen:CA117193,UniProtKB:Q9HBA0#VAR_064521