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_014845.6(FIG4):c.737G>A (p.Trp246Ter)	FIG4	Pathogenic	6	110059618	110059618	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618230
Duplication	NM_014845.6(FIG4):c.1373dup (p.Leu458fs)	FIG4	Pathogenic	6	110083391	110083392	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA3956048
single nucleotide variant	NM_002047.4(GARS1):c.875T>C (p.Met292Thr)	GARS1	Likely pathogenic	7	30649340	30649340	T	C	criteria provided, single submitter	ClinGen:CA16618453
single nucleotide variant	NM_002047.4(GARS1):c.998A>C (p.Glu333Ala)	GARS1	Likely pathogenic	7	30651828	30651828	A	C	criteria provided, single submitter	ClinGen:CA16618454
Duplication	NM_001540.5(HSPB1):c.180dup (p.Ala61fs)	HSPB1	Pathogenic/Likely pathogenic	7	75932203	75932204	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618560
single nucleotide variant	NM_001540.5(HSPB1):c.416C>T (p.Thr139Met)	HSPB1	Pathogenic/Likely pathogenic	7	75933170	75933170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618562
single nucleotide variant	NM_018972.4(GDAP1):c.308A>T (p.Asp103Val)	GDAP1	Likely pathogenic	8	75263699	75263699	A	T	criteria provided, single submitter	ClinGen:CA16618693
Duplication	NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup)	SURF1	Likely pathogenic	9	136218926	136218927	T	TGTACTGCAGATGCTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618781
Insertion	NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)	SURF1	Pathogenic/Likely pathogenic	9	136219562	136219563	C	CGCAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618782
Duplication	NM_018706.7(DHTKD1):c.467dup (p.Thr157fs)	DHTKD1	Pathogenic/Likely pathogenic	10	12126694	12126695	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618937