"GeneDx"[submitter] AND "PLEKHG5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 297928	NM_020631.6(PLEKHG5):c.*290T>C	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297930	NM_020631.6(PLEKHG5):c.*108G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GBenign/Likely benign
Select item 1211891	NM_020631.6(PLEKHG5):c.*12C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 676978	NM_020631.6(PLEKHG5):c.3012-79C>T	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667940	NM_020631.6(PLEKHG5):c.3012-113G>A	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198764	NM_020631.6(PLEKHG5):c.3011+60C>A	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391775	NM_020631.6(PLEKHG5):c.3011+9C>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GLikely benign
Select item 843475	NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)	PLEKHG5 (R1059Q +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 246207	NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met)	PLEKHG5 (R967M +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance
Select item 195526	NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys)	PLEKHG5 (R956K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 246359	NM_020631.6(PLEKHG5):c.2848G>T (p.Ala950Ser)	PLEKHG5 (A950S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 287488	NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)	PLEKHG5 (G943R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 426958	NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln)	PLEKHG5 (R930Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 380622	NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 195527	NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)	PLEKHG5 (L907P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 389931	NM_020631.6(PLEKHG5):c.2691C>G (p.Ala897=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 297936	NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 393217	NM_020631.6(PLEKHG5):c.2677G>A (p.Gly893Arg)	PLEKHG5 (G893R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 297937	NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 246413	NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu)	PLEKHG5 (P870L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance
Select item 235230	NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)	PLEKHG5 (Q865R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 384612	NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)	PLEKHG5 (R861C +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GBenign/Likely benign
Select item 426600	NM_020631.6(PLEKHG5):c.2579G>A (p.Arg860His)	PLEKHG5 (R860H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 287487	NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)	PLEKHG5 (R859H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 655122	NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)	PLEKHG5 (R859C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +4 more	GUncertain significance
Select item 835078	NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)	PLEKHG5 (R857C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 297940	NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln)	PLEKHG5 (R848Q +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 566096	NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)	PLEKHG5 (R848* +2 more)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GPathogenic/Likely pathogenic
Select item 245769	NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln)	PLEKHG5 (R842Q +3 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance
Select item 297941	NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr)	PLEKHG5 (D829Y +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 234692	NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser)	PLEKHG5 (G820S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 297942	NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 652410	NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr)	PLEKHG5 (C813Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GUncertain significance
Select item 287911	NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 290013	NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys)	PLEKHG5 (R811C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285567	NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)	PLEKHG5 (G810S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 385221	NM_020631.6(PLEKHG5):c.2424G>A (p.Val808=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GLikely benign
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 508904	NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 297946	NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GBenign
Select item 387804	NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 291269	NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 285568	NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 429408	NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met)	PLEKHG5 (T769M +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance
Select item 387281	NM_020631.6(PLEKHG5):c.2281A>G (p.Met761Val)	PLEKHG5 (M761V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513202	NM_020631.6(PLEKHG5):c.2250-13C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GBenign/Likely benign
Select item 1178260	NM_020631.6(PLEKHG5):c.2250-88T>C	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209027	NM_020631.6(PLEKHG5):c.2249+49T>C	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388097	NM_020631.6(PLEKHG5):c.2249+7C>G	PLEKHG5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 754954	NM_020631.6(PLEKHG5):c.2235C>T (p.Pro745=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GLikely benign
Select item 391000	NM_020631.6(PLEKHG5):c.2226C>T (p.Ser742=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 2924427	NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)	PLEKHG5 (I806S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 297950	NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu)	PLEKHG5	Microsatellite (inframe_insertion +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 297949	NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)	PLEKHG5	Microsatellite (inframe_indel +1 more)	Distal spinal muscular atrophy +4 more	GConflicting classifications of pathogenicity
Select item 514904	NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del)	PLEKHG5	Microsatellite (inframe_deletion +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 194979	NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)	PLEKHG5 (E723del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +4 more	GBenign/Likely benign
Select item 194977	NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)	PLEKHG5	Microsatellite (inframe_deletion +1 more)	not specified +3 more	GBenign
Select item 297951	NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys)	PLEKHG5 (E722K +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GLikely benign
Select item 2501239	NM_020631.6(PLEKHG5):c.2160_2163delinsA (p.Glu723del)	PLEKHG5 (E723del +2 more)	Indel (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 506401	NM_020631.6(PLEKHG5):c.2127_2162dup (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)	PLEKHG5	Duplication (inframe_indel +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 194978	NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 517681	NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu)	PLEKHG5	Duplication (inframe_insertion +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GConflicting classifications of pathogenicity
Select item 493017	NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu)	PLEKHG5 (Q711E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 468900	NM_020631.6(PLEKHG5):c.2070T>C (p.Arg690=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1806756	NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)	PLEKHG5 (R690S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 489025	NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)	PLEKHG5 (Q685* +2 more)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GPathogenic/Likely pathogenic
Select item 517808	NM_020631.6(PLEKHG5):c.2050-17C>A	PLEKHG5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 515435	NM_020631.6(PLEKHG5):c.2049+9A>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GLikely benign
Select item 1305417	NM_020631.6(PLEKHG5):c.2048A>G (p.Gln683Arg)	PLEKHG5 (Q683R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300633	NM_020631.6(PLEKHG5):c.2021G>A (p.Gly674Asp)	PLEKHG5 (G674D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 388922	NM_020631.6(PLEKHG5):c.1933+18C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GLikely benign
Select item 194777	NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1442873	NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp)	PLEKHG5 (R642W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 390910	NM_020631.6(PLEKHG5):c.1914C>T (p.Cys638=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 386661	NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 297953	NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys)	PLEKHG5 (R628K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1398214	NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys)	PLEKHG5 (R662K +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 817240	NM_020631.6(PLEKHG5):c.1843del (p.Thr615fs)	PLEKHG5 (T615fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 512877	NM_020631.6(PLEKHG5):c.1836G>A (p.Leu612=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 245844	NM_020631.6(PLEKHG5):c.1826C>A (p.Thr609Lys)	PLEKHG5 (T609K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468897	NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 297954	NM_020631.6(PLEKHG5):c.1801-12C>A	PLEKHG5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 513060	NM_020631.6(PLEKHG5):c.1801-16C>A	PLEKHG5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1233170	NM_020631.6(PLEKHG5):c.1801-71G>A	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180014	NM_020631.6(PLEKHG5):c.1801-87C>G	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182151	NM_020631.6(PLEKHG5):c.1801-113A>C	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667938	NM_020631.6(PLEKHG5):c.1800+107C>T	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 546263	NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln)	PLEKHG5 (E595Q +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance
Select item 73890	NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys)	PLEKHG5 (E581K +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 246143	NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys)	PLEKHG5 (E580K +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 378378	NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)	PLEKHG5 (P575L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GConflicting classifications of pathogenicity
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 468895	NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln)	PLEKHG5 (L566Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1260549	NM_020631.6(PLEKHG5):c.1681-20T>C	PLEKHG5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 194553	NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val)	PLEKHG5 (A539V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +4 more	GUncertain significance
Select item 297956	NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met)	PLEKHG5 (V518M +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance

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