ClinVar for Gene (Select 57449) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380761	NM_020631.6(PLEKHG5):c.1117G>A (p.Gly373Arg)	PLEKHG5 (G373R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380668	NM_020631.6(PLEKHG5):c.2635G>A (p.Glu879Lys)	PLEKHG5 (E879K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364094	NM_020631.6(PLEKHG5):c.288G>C (p.Lys96Asn)	PLEKHG5 (K133N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362066	NM_020631.6(PLEKHG5):c.440-11C>G	PLEKHG5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3307612	NM_020631.6(PLEKHG5):c.605G>T (p.Arg202Leu)	PLEKHG5 (R202L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307611	NM_020631.6(PLEKHG5):c.1580C>T (p.Ala527Val)	PLEKHG5 (A564V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242557	NM_020631.6(PLEKHG5):c.1281+1del	PLEKHG5	Deletion (splice donor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GPathogenic
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3242126	NM_020631.6(PLEKHG5):c.2839G>A (p.Gly947Arg)	PLEKHG5 (G1016R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C	GUncertain significance
Select item 3239296	NM_020631.6(PLEKHG5):c.2065C>T (p.Leu689=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215011	NM_020631.6(PLEKHG5):c.883G>C (p.Asp295His)	PLEKHG5 (D332H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215010	NM_020631.6(PLEKHG5):c.800T>C (p.Val267Ala)	PLEKHG5 (V336A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3215002	NM_020631.6(PLEKHG5):c.142G>T (p.Gly48Cys)	PLEKHG5 (G85C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215001	NM_198681.4(PLEKHG5):c.-117G>A	PLEKHG5	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3064916	NM_020631.6(PLEKHG5):c.1844C>A (p.Thr615Asn)	PLEKHG5 (T615N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3058703	NM_020631.6(PLEKHG5):c.-88+6199G>T	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	PLEKHG5-related disorder	GLikely benign
Select item 3049904	NM_020631.6(PLEKHG5):c.-79C>T	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	PLEKHG5-related disorder	GLikely benign
Select item 2954330	NM_020631.6(PLEKHG5):c.1548C>T (p.Gly516=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2954313	NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)	PLEKHG5 (E716* +2 more)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
Select item 2954026	NM_020631.6(PLEKHG5):c.149+13T>G	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2954002	NM_020631.6(PLEKHG5):c.1132-3del	PLEKHG5	Deletion (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2953946	NM_020631.6(PLEKHG5):c.1800+10G>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2953650	NM_020631.6(PLEKHG5):c.1393-8dup	PLEKHG5	Duplication (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GBenign
Select item 2953611	NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)	PLEKHG5 (S744fs +2 more)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
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 2953387	NM_020631.6(PLEKHG5):c.1801-10_1801-8del	PLEKHG5	Deletion (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2953307	NM_020631.6(PLEKHG5):c.2088C>T (p.Gly696=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2953089	NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)	PLEKHG5 (E512* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GPathogenic/Likely pathogenic
Select item 2952728	NM_020631.6(PLEKHG5):c.1680+1G>T	PLEKHG5	Single nucleotide variant (splice donor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely pathogenic
Select item 2952704	NM_020631.6(PLEKHG5):c.906G>A (p.Glu302=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2952664	NM_020631.6(PLEKHG5):c.439+8G>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2952449	NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)	PLEKHG5 (E649fs +2 more)	Duplication (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
Select item 2952386	NM_020631.6(PLEKHG5):c.510G>C (p.Pro170=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2952176	NM_020631.6(PLEKHG5):c.879C>T (p.Arg293=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2952136	NM_020631.6(PLEKHG5):c.2050-11C>G	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +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 2951909	NM_020631.6(PLEKHG5):c.1033C>T (p.Leu345=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2951456	NM_020631.6(PLEKHG5):c.1680+17G>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2951294	NM_020631.6(PLEKHG5):c.211-5C>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2951282	NM_020631.6(PLEKHG5):c.795+20C>G	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2951181	NM_020631.6(PLEKHG5):c.663C>A (p.Pro221=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2951148	NM_020631.6(PLEKHG5):c.2472A>G (p.Pro824=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2951098	NM_020631.6(PLEKHG5):c.1393-6C>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950985	NM_020631.6(PLEKHG5):c.1392+13G>C	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950908	NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)	PLEKHG5 (K877* +2 more)	Duplication (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
Select item 2950805	NM_020631.6(PLEKHG5):c.2622C>G (p.Leu874=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950699	NM_020631.6(PLEKHG5):c.2249+1G>A	PLEKHG5	Single nucleotide variant (splice donor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely pathogenic
Select item 2950653	NM_020631.6(PLEKHG5):c.1002G>A (p.Gln334=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950547	NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)	PLEKHG5 (K100* +2 more)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
Select item 2950454	NM_020631.6(PLEKHG5):c.1998C>T (p.Ala666=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950258	NM_020631.6(PLEKHG5):c.1542+10A>G	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950240	NM_020631.6(PLEKHG5):c.592-15C>A	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950191	NM_020631.6(PLEKHG5):c.2049+8C>G	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2950114	NM_020631.6(PLEKHG5):c.15G>A (p.Gly5=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2949863	NM_020631.6(PLEKHG5):c.2496C>A (p.Ala832=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2949736	NM_020631.6(PLEKHG5):c.1029G>A (p.Glu343=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2949711	NM_020631.6(PLEKHG5):c.1335C>T (p.Cys445=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2949598	NM_020631.6(PLEKHG5):c.573G>A (p.Arg191=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2949478	NM_020631.6(PLEKHG5):c.985-18A>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2949418	NM_020631.6(PLEKHG5):c.1801-2A>G	PLEKHG5	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely pathogenic
Select item 2949394	NM_020631.6(PLEKHG5):c.1680+18C>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2949250	NM_020631.6(PLEKHG5):c.2049+7G>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2948807	NM_020631.6(PLEKHG5):c.211-7C>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2948681	NM_020631.6(PLEKHG5):c.990G>T (p.Leu330=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2948622	NM_020631.6(PLEKHG5):c.1393-14C>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2948599	NM_020631.6(PLEKHG5):c.2301G>C (p.Gly767=)	PLEKHG5	Single nucleotide variant (synonymous 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 2948091	NM_020631.6(PLEKHG5):c.2208C>G (p.Thr736=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2948081	NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)	PLEKHG5 (F830fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GPathogenic
Select item 2947981	NM_020631.6(PLEKHG5):c.1680+13G>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
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 2947865	NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)	PLEKHG5 (E717fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GPathogenic
Select item 2947790	NM_020631.6(PLEKHG5):c.1344C>T (p.Tyr448=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2947726	NM_020631.6(PLEKHG5):c.1392+14_1392+34del	PLEKHG5	Deletion (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2947725	NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)	PLEKHG5 (A466fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GPathogenic
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 2947668	NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)	PLEKHG5 (Q407R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2947561	NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)	PLEKHG5 (Q508R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2947554	NM_020631.6(PLEKHG5):c.1659C>T (p.Ser553=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2947417	NM_020631.6(PLEKHG5):c.2502C>T (p.Gly834=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2947300	NM_020631.6(PLEKHG5):c.1131+18G>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946985	NM_020631.6(PLEKHG5):c.940C>T (p.Leu314=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946844	NM_020631.6(PLEKHG5):c.1801-17C>T	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946812	NM_020631.6(PLEKHG5):c.2496C>T (p.Ala832=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946694	NM_020631.6(PLEKHG5):c.291G>A (p.Lys97=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946665	NM_020631.6(PLEKHG5):c.2250-2A>C	PLEKHG5	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely pathogenic
Select item 2946537	NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)	LOC126805598, PLEKHG5 (Q83fs +2 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GPathogenic
Select item 2946429	NM_020631.6(PLEKHG5):c.303-19C>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946387	NM_020631.6(PLEKHG5):c.210+14dup	PLEKHG5	Duplication (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GBenign
Select item 2946339	NM_020631.6(PLEKHG5):c.984+8C>A	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946288	NM_020631.6(PLEKHG5):c.2596C>T (p.Leu866=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2946128	NM_020631.6(PLEKHG5):c.796-6T>G	PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign

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