C1970211[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194881	NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 1260549	NM_020631.6(PLEKHG5):c.1681-20T>C	PLEKHG5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 670557	NM_020631.6(PLEKHG5):c.1393-22dup	PLEKHG5	Duplication (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GBenign
Select item 198895	NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)	PLEKHG5 (T238S +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GBenign
Select item 246031	NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)	LOC126805598, PLEKHG5 (P12T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 380860	NM_198681.4(PLEKHG5):c.-267G>A	PLEKHG5	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign

ClinVar