PLEKHG5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297906	NM_020631.4(PLEKHG5):c.1379_1382delGGCG	PLEKHG5	Deletion	Distal spinal muscular atrophy	GBenign
Select item 874694	NM_020631.4(PLEKHG5):c.*1374C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297907	NM_020631.4(PLEKHG5):c.*1354T>C	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297908	NM_020631.4(PLEKHG5):c.*1347G>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874695	NM_020631.4(PLEKHG5):c.*1333C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874696	NM_020631.4(PLEKHG5):c.*1332C>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297909	NM_020631.4(PLEKHG5):c.*1313C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297910	NM_020631.4(PLEKHG5):c.*1304G>A	PLEKHG5	Single nucleotide variant	not provided +1 more	GBenign
Select item 297911	NM_020631.4(PLEKHG5):c.*1289C>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 875638	NM_020631.4(PLEKHG5):c.*1186A>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 297912	NM_020631.4(PLEKHG5):c.*1158G>C	PLEKHG5	Single nucleotide variant	not provided +1 more	GBenign
Select item 875639	NM_020631.4(PLEKHG5):c.*1087G>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297913	NM_020631.4(PLEKHG5):c.*1052G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297914	NM_020631.4(PLEKHG5):c.*1016A>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297915	NM_020631.4(PLEKHG5):c.*1006C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297916	NM_020631.4(PLEKHG5):c.*990C>T	PLEKHG5	Single nucleotide variant	not provided +1 more	GBenign
Select item 297917	NM_020631.4(PLEKHG5):c.*981dupC	PLEKHG5	Duplication	Distal spinal muscular atrophy	GUncertain significance
Select item 297918	NM_020631.5(PLEKHG5):c.*905G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297919	NM_020631.5(PLEKHG5):c.*843G>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GBenign
Select item 876638	NM_020631.5(PLEKHG5):c.*816C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297920	NM_020631.5(PLEKHG5):c.*801G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297921	NM_020631.5(PLEKHG5):c.*775T>G	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297923	NM_020631.5(PLEKHG5):c.*765T>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297922	NM_020631.5(PLEKHG5):c.*751delT	PLEKHG5	Deletion	Distal spinal muscular atrophy	GUncertain significance
Select item 297924	NM_020631.5(PLEKHG5):c.*750delC	PLEKHG5	Deletion	Distal spinal muscular atrophy	GUncertain significance
Select item 297925	NM_020631.5(PLEKHG5):c.*697C>T	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GBenign
Select item 873788	NM_020631.5(PLEKHG5):c.*573G>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297926	NM_020631.5(PLEKHG5):c.*555T>A	PLEKHG5	Single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297927	NM_020631.6(PLEKHG5):c.*363C>G	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 873789	NM_020631.6(PLEKHG5):c.*304C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
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 873790	NM_020631.6(PLEKHG5):c.*285C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 873791	NM_020631.6(PLEKHG5):c.*236G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 297929	NM_020631.6(PLEKHG5):c.*192G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874744	NM_020631.6(PLEKHG5):c.*159G>A	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
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 297931	NM_020631.6(PLEKHG5):c.*68C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 874745	NM_020631.6(PLEKHG5):c.*63C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GBenign
Select item 297932	NM_020631.6(PLEKHG5):c.*27T>C	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GBenign
Select item 1211891	NM_020631.6(PLEKHG5):c.*12C>T	PLEKHG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 1798815	NM_020631.6(PLEKHG5):c.3012-3T>C	PLEKHG5	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 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 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)	Charcot-Marie-Tooth disease recessive intermediate C +2 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 1797647	NM_020631.6(PLEKHG5):c.2918C>A (p.Pro973Gln)	PLEKHG5 (P1042Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
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 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

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