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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 246

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1798815	NM_020631.6(PLEKHG5):c.3012-3T>C	PLEKHG5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 282038	NM_020631.6(PLEKHG5):c.2802C>T (p.Ser934=)	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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
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 2313198	NM_020631.6(PLEKHG5):c.2684C>G (p.Pro895Arg)	PLEKHG5 (P964R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 864008	NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn)	PLEKHG5 (S950N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1793947	NM_020631.6(PLEKHG5):c.2620C>G (p.Leu874Val)	PLEKHG5 (L943V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1470424	NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr)	PLEKHG5 (H872Y +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GUncertain significance
Select item 297938	NM_020631.6(PLEKHG5):c.2612C>T (p.Pro871Leu)	PLEKHG5 (P871L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 468909	NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 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 569860	NM_020631.6(PLEKHG5):c.2578C>T (p.Arg860Cys)	PLEKHG5 (R860C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
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 195528	NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu)	PLEKHG5 (S855L +2 more)	Single nucleotide variant (missense variant)	not provided +3 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 536789	NM_020631.6(PLEKHG5):c.2538C>A (p.Ser846=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 3215008	NM_020631.6(PLEKHG5):c.2456A>G (p.Tyr819Cys)	PLEKHG5 (Y819C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 536781	NM_020631.6(PLEKHG5):c.2435C>T (p.Ser812Phe)	PLEKHG5 (S812F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 579284	NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His)	PLEKHG5 (R811H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 297943	NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 284266	NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)	PLEKHG5 (A862fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1790333	NM_020631.6(PLEKHG5):c.2374_2376del (p.Thr792del)	PLEKHG5 (T829del +2 more)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209286	NM_020631.6(PLEKHG5):c.2365C>T (p.Leu789Phe)	PLEKHG5 (L826F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1789767	NM_020631.6(PLEKHG5):c.2335C>T (p.Pro779Ser)	PLEKHG5 (P816S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1788740	NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)	PLEKHG5 (E794* +2 more)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GPathogenic
Select item 536776	NM_020631.6(PLEKHG5):c.2268G>A (p.Thr756=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3215007	NM_020631.6(PLEKHG5):c.2267C>T (p.Thr756Met)	PLEKHG5 (T756M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 297947	NM_020631.6(PLEKHG5):c.2249+4C>T	PLEKHG5	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 536774	NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser)	PLEKHG5 (G743S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 639613	NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp)	PLEKHG5 (R739W +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GUncertain significance
Select item 1376982	NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu)	PLEKHG5	Duplication (inframe_indel +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GUncertain significance
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 2386687	NM_020631.6(PLEKHG5):c.2145GGA[5] (p.Glu721_Glu723del)	PLEKHG5	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GLikely benign
Select item 1786951	NM_020631.6(PLEKHG5):c.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)	PLEKHG5	Indel (inframe_insertion +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GLikely benign
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 284506	NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1977082	NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del)	PLEKHG5	Deletion (inframe_deletion +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GConflicting classifications of pathogenicity
Select item 843557	NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)	PLEKHG5 (E786K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1054411	NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)	PLEKHG5 (D709E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1786279	NM_020631.6(PLEKHG5):c.2118GGA[2] (p.Glu708del)	PLEKHG5 (E708del +2 more)	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases	GUncertain significance
Select item 468901	NM_020631.6(PLEKHG5):c.2124G>A (p.Glu708=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GLikely benign
Select item 1786142	NM_020631.6(PLEKHG5):c.2113G>A (p.Glu705Lys)	PLEKHG5 (E742K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215006	NM_020631.6(PLEKHG5):c.2080C>G (p.Pro694Ala)	PLEKHG5 (P694A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 468899	NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys)	PLEKHG5 (R673C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 839629	NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met)	PLEKHG5 (V633M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 2391663	NM_020631.6(PLEKHG5):c.1894C>T (p.Leu632Phe)	PLEKHG5 (L632F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215004	NM_020631.6(PLEKHG5):c.1888C>A (p.Pro630Thr)	PLEKHG5 (P630T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1781153	NM_020631.6(PLEKHG5):c.1840G>T (p.Val614Leu)	PLEKHG5 (V651L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 468898	NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu)	PLEKHG5 (V614L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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 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 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 468896	NM_020631.6(PLEKHG5):c.1707C>T (p.Asp569=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 1777831	NM_020631.6(PLEKHG5):c.1678A>G (p.Lys560Glu)	PLEKHG5 (K597E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290907	NM_020631.6(PLEKHG5):c.1669G>A (p.Glu557Lys)	PLEKHG5 (E557K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 468892	NM_020631.6(PLEKHG5):c.1647G>A (p.Glu549=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2489825	NM_020631.6(PLEKHG5):c.1639G>A (p.Ala547Thr)	PLEKHG5 (A584T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

<< First< Prev

Page of 3