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_006415.4(SPTLC1):c.431T>A (p.Val144Asp)	SPTLC1	Pathogenic/Likely pathogenic	9	94830377	94830377	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340288,UniProtKB:O15269#VAR_011394,OMIM:605712.0003
single nucleotide variant	NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)	SPTLC1	Pathogenic	9	94842326	94842326	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340293,UniProtKB:O15269#VAR_011392,OMIM:605712.0002
single nucleotide variant	NM_006415.4(SPTLC1):c.992C>T (p.Ser331Phe)	SPTLC1	Pathogenic	9	94809543	94809543	G	A	criteria provided, single submitter	ClinGen:CA117094,UniProtKB:O15269#VAR_066245,OMIM:605712.0005
single nucleotide variant	NM_007254.4(PNKP):c.976G>A (p.Glu326Lys)	PNKP	Pathogenic	19	50365681	50365681	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA250516,UniProtKB:Q96T60#VAR_063836,OMIM:605610.0001
Duplication	NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)	PNKP	Pathogenic	19	50365057	50365058	T	TGTTGTCGATGGCGACCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA213109,OMIM:605610.0002
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_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.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.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.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