"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PLEKHG5 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2193664	NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1013640	NM_020631.6(PLEKHG5):c.3012-17_3012-6del	PLEKHG5	Deletion (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2945751	NM_020631.6(PLEKHG5):c.3012-7C>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2948503	NM_020631.6(PLEKHG5):c.3012-10C>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2924683	NM_020631.6(PLEKHG5):c.3012-11C>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1593783	NM_020631.6(PLEKHG5):c.3012-12C>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2936564	NM_020631.6(PLEKHG5):c.3012-15C>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2081960	NM_020631.6(PLEKHG5):c.3012-17C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2938888	NM_020631.6(PLEKHG5):c.3012-18C>T	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2926028	NM_020631.6(PLEKHG5):c.3011+19G>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2924334	NM_020631.6(PLEKHG5):c.3011+17G>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2944155	NM_020631.6(PLEKHG5):c.3011+15C>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2934352	NM_020631.6(PLEKHG5):c.3011+12G>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2951999	NM_020631.6(PLEKHG5):c.3011+11T>C	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	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 642177	NM_020631.6(PLEKHG5):c.3011+6T>C	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1061728	NM_020631.6(PLEKHG5):c.3011+3G>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2095118	NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)	PLEKHG5 (A1003V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2929754	NM_020631.6(PLEKHG5):c.3003C>T (p.Leu1001=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1080670	NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 652244	NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met)	PLEKHG5 (T1069M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2947884	NM_020631.6(PLEKHG5):c.2994C>T (p.Asn998=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 858211	NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)	PLEKHG5 (A930G +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 1491203	NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro)	PLEKHG5 (L1033P +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 1611593	NM_020631.6(PLEKHG5):c.2986C>T (p.Leu996=)	PLEKHG5 (A929V)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2926345	NM_020631.6(PLEKHG5):c.2983C>T (p.Leu995=)	PLEKHG5 (P928L)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2927329	NM_020631.6(PLEKHG5):c.2982C>T (p.Thr994=)	PLEKHG5 (P928S)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1044115	NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn)	PLEKHG5 (D926E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2924107	NM_020631.6(PLEKHG5):c.2976G>A (p.Arg992=)	PLEKHG5 (D926N)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 568425	NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys)	PLEKHG5 (R992K +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2167482	NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)	PLEKHG5 (I1060T +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 843475	NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)	PLEKHG5 (R1059Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 947464	NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter)	PLEKHG5 (R1059* +3 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 1532351	NM_020631.6(PLEKHG5):c.2967C>T (p.Tyr989=)	PLEKHG5 (P923S)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2928300	NM_020631.6(PLEKHG5):c.2958C>T (p.Ala986=)	PLEKHG5 (P920S)	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2947704	NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)	PLEKHG5 (A1023T +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 297933	NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=)	PLEKHG5 (P918S)	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GConflicting classifications of pathogenicity
Select item 2932016	NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)	PLEKHG5 (K982fs +3 more)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
Select item 1980677	NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)	PLEKHG5 (E915G +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 574034	NM_020631.6(PLEKHG5):c.2933C>T (p.Ala978Val)	PLEKHG5 (A978V +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 654396	NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro)	PLEKHG5 (A978P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2921604	NM_020631.6(PLEKHG5):c.2925G>A (p.Gly975=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1929607	NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu)	PLEKHG5 (G975E +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 774014	NM_020631.6(PLEKHG5):c.2916C>G (p.Pro972=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1984062	NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)	PLEKHG5 (S965fs +2 more)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1053826	NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg)	PLEKHG5 (P1009R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 1002241	NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu)	PLEKHG5 (P1009L +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GUncertain significance
Select item 1909611	NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)	PLEKHG5 (V968fs +2 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GPathogenic/Likely pathogenic
Select item 246207	NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met)	PLEKHG5 (R967M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1016523	NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe)	PLEKHG5 (S1002F +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 705840	NM_020631.6(PLEKHG5):c.2892C>G (p.Ala964=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1414153	NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu)	PLEKHG5 (G1032E +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1384434	NM_020631.6(PLEKHG5):c.2887G>T (p.Gly963Trp)	PLEKHG5 (G1032W +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 577879	NM_020631.6(PLEKHG5):c.2886G>A (p.Ser962=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1431185	NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu)	PLEKHG5 (S1031L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 2936792	NM_020631.6(PLEKHG5):c.2883C>T (p.Pro961=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2940176	NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)	PLEKHG5 (P1030fs +2 more)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
Select item 857657	NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg)	PLEKHG5 (L1029R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2924881	NM_020631.6(PLEKHG5):c.2868G>A (p.Arg956=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
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 572080	NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg)	PLEKHG5 (K955R +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1127508	NM_020631.6(PLEKHG5):c.2856C>T (p.Ser952=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1093366	NM_020631.6(PLEKHG5):c.2841G>A (p.Gly947=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1589480	NM_020631.6(PLEKHG5):c.2838C>G (p.Ala946=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1150937	NM_020631.6(PLEKHG5):c.2838C>T (p.Ala946=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 468912	NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val)	PLEKHG5 (A946V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 646472	NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser)	PLEKHG5 (G1012S +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	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 757869	NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GConflicting classifications of pathogenicity
Select item 998844	NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg)	PLEKHG5 (G1009R +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GConflicting classifications of pathogenicity
Select item 968541	NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser)	PLEKHG5 (G938S +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 767095	NM_020631.6(PLEKHG5):c.2811C>T (p.Ser937=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1001153	NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr)	PLEKHG5 (S1003T +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1530943	NM_020631.6(PLEKHG5):c.2799T>G (p.Pro933=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2943449	NM_020631.6(PLEKHG5):c.2796C>G (p.Ala932=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1661739	NM_020631.6(PLEKHG5):c.2796C>T (p.Ala932=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2931954	NM_020631.6(PLEKHG5):c.2793G>A (p.Gly931=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 943176	NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg)	PLEKHG5 (G1000R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 648797	NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu)	PLEKHG5 (R930L +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
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 1796001	NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)	PLEKHG5 (R930* +2 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GPathogenic
Select item 1647109	NM_020631.6(PLEKHG5):c.2772G>A (p.Gly924=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 297934	NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del)	PLEKHG5 (P920del +2 more)	Deletion (inframe_indel +2 more)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 948599	NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu)	PLEKHG5 (P957L +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2189342	NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)	PLEKHG5 (Q986H +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
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 1052687	NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu)	PLEKHG5 (Q917E +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 297935	NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro)	PLEKHG5 (T916P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2928612	NM_020631.6(PLEKHG5):c.2745G>A (p.Arg915=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 957992	NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys)	PLEKHG5 (R984K +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
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 2953418	NM_020631.6(PLEKHG5):c.2736A>C (p.Pro912=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2940953	NM_020631.6(PLEKHG5):c.2733C>T (p.Ala911=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2922779	NM_020631.6(PLEKHG5):c.2733C>A (p.Ala911=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 536782	NM_020631.6(PLEKHG5):c.2728C>T (p.Pro910Ser)	PLEKHG5 (P910S +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2945238	NM_020631.6(PLEKHG5):c.2721G>A (p.Leu907=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
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 468911	NM_020631.6(PLEKHG5):c.2713C>T (p.Leu905Phe)	PLEKHG5 (L905F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 468910	NM_020631.6(PLEKHG5):c.2698C>T (p.Arg900Cys)	PLEKHG5 (R900C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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

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