"Baylor Genetics"[submitter] AND "PLEKHG5"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 468907	NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met)	PLEKHG5 (T797M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 378377	NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)	PLEKHG5 (D569N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1028663	NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn)	PLEKHG5 (Y491N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 1028662	NM_020631.6(PLEKHG5):c.1393-16C>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C	GUncertain significance
Select item 245662	NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)	PLEKHG5 (R332W +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 297964	NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser)	PLEKHG5 (P289S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GUncertain significance
Select item 962105	NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser)	PLEKHG5 (R174S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic