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.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.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_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	DYNC1H1	Pathogenic/Likely pathogenic	14	102452354	102452354	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA174988,UniProtKB:Q14204#VAR_073157
single nucleotide variant	NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser)	PRPS1	Pathogenic	X	106884162	106884162	G	T	criteria provided, single submitter	ClinGen:CA270656,OMIM:311850.0021
single nucleotide variant	NM_002764.4(PRPS1):c.343A>G (p.Met115Val)	PRPS1	Pathogenic	X	106884168	106884168	A	G	criteria provided, single submitter	ClinGen:CA270659,OMIM:311850.0022
single nucleotide variant	NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)	PRPS1	Pathogenic	X	106893230	106893230	G	T	criteria provided, single submitter	ClinGen:CA270662,OMIM:311850.0023
single nucleotide variant	NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)	NAGLU	Pathogenic	17	40695970	40695970	G	T	criteria provided, single submitter	ClinGen:CA170085
single nucleotide variant	NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)	NAGLU	Pathogenic/Likely pathogenic	17	40695973	40695973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA170087,UniProtKB:P54802#VAR_054736
single nucleotide variant	NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)	GJB1	Pathogenic	X	70443816	70443816	C	G	criteria provided, single submitter	ClinGen:CA270640,UniProtKB:P08034#VAR_002064
single nucleotide variant	NM_000166.6(GJB1):c.580A>G (p.Met194Val)	GJB1	Pathogenic	X	70444137	70444137	A	G	criteria provided, single submitter	ClinGen:CA270643,UniProtKB:P08034#VAR_002120