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_002047.4(GARS1):c.631T>C (p.Cys211Arg)	GARS1	Likely pathogenic	7	30642711	30642711	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)	HSPB1	Likely pathogenic	7	75933158	75933158	C	G	criteria provided, single submitter	-
Deletion	NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)	HSPB1	Likely pathogenic	7	75933348	75933349	CCT	C	criteria provided, single submitter	-
Deletion	NM_018972.4(GDAP1):c.116del (p.Lys39fs)	GDAP1	Pathogenic	8	75262809	75262809	CA	C	criteria provided, single submitter	-
Indel	NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)	GDAP1	Pathogenic	8	75263565	75263567	GCC	TGTG	criteria provided, single submitter	-
Duplication	NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)	GDAP1	Pathogenic	8	75272409	75272410	G	GT	criteria provided, single submitter	OMIM:606598.0007
single nucleotide variant	NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)	GDAP1	Pathogenic	8	75272506	75272506	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)	GDAP1	Likely pathogenic	8	75274167	75274167	A	G	criteria provided, single submitter	-
Deletion	NM_018972.4(GDAP1):c.558del (p.Ile186fs)	GDAP1	Pathogenic	8	75274191	75274191	AT	A	criteria provided, single submitter	-
Deletion	NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)	GDAP1	Pathogenic	8	75276365	75276365	AC	A	criteria provided, single submitter	-