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_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)	PLEKHG5	Pathogenic/Likely pathogenic	1	6528354	6528354	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)	PLEKHG5	Pathogenic/Likely pathogenic	1	6529298	6529298	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA561265
single nucleotide variant	NM_020631.6(PLEKHG5):c.1080+1G>A	PLEKHG5	Likely pathogenic	1	6532586	6532586	C	T	criteria provided, single submitter	ClinGen:CA338132434
single nucleotide variant	NM_020631.6(PLEKHG5):c.985-2A>G	PLEKHG5	Pathogenic/Likely pathogenic	1	6532684	6532684	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338133178
Deletion	NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs)	PLEKHG5	Pathogenic	1	6534121	6534211	GGGCGGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCA	G	criteria provided, single submitter	-
Deletion	NM_020631.6(PLEKHG5):c.58del (p.Arg20fs)	PLEKHG5	Pathogenic	1	6536082	6536082	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.5451+2T>G	SBF2	Likely pathogenic	11	9803052	9803052	A	C	criteria provided, single submitter	ClinGen:CA10604738
Insertion	NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)	SBF2	Pathogenic/Likely pathogenic	11	9805962	9805963	T	TATAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619420
single nucleotide variant	NM_030962.4(SBF2):c.5037+1G>A	SBF2	Pathogenic	11	9809180	9809180	C	T	criteria provided, single submitter	ClinGen:CA16613472
single nucleotide variant	NM_030962.4(SBF2):c.4443+1G>A	SBF2	Pathogenic	11	9829546	9829546	C	T	criteria provided, single submitter	-