"Clinical Genetics, Academic Medical Center"[submitter] AND "PLEKHG5"[ - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328063	NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg)	PLEKHG5 (A913P +3 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 194979	NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)	PLEKHG5 (E723del +2 more)	Microsatellite (inframe_deletion +1 more)	Distal spinal muscular atrophy +4 more	GBenign/Likely benign
Select item 281726	NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 245662	NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)	PLEKHG5 (R332W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 198894	NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)	PLEKHG5 (D240G +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 378374	NM_020631.6(PLEKHG5):c.440-6A>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GBenign
Select item 1328097	NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu)	PLEKHG5 (R144L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1209916	NM_020631.6(PLEKHG5):c.335G>T (p.Gly112Val)	PLEKHG5 (G112V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance