Related gene-specific medical variations for Gene (Select 57449) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3049904	NM_020631.6(PLEKHG5):c.-79C>T	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	PLEKHG5-related condition	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 2946537	NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)	LOC126805598, PLEKHG5 (Q83fs +2 more)	Duplication (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GPathogenic
Select item 2943820	NM_020631.6(PLEKHG5):c.43+8_43+22del	LOC126805598, PLEKHG5	Deletion (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2942609	NM_020631.6(PLEKHG5):c.43+13G>C	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2940572	NM_020631.6(PLEKHG5):c.43+7A>G	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2932319	NM_020631.6(PLEKHG5):c.43+19C>T	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 2435083	NM_020631.6(PLEKHG5):c.915_923del (p.Glu305_Glu307del)	PLEKHG5	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2435082	NM_020631.6(PLEKHG5):c.2084C>T (p.Pro695Leu)	PLEKHG5 (P695L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134349	NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)	LOC126805598, PLEKHG5 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 2107394	NM_020631.6(PLEKHG5):c.27C>T (p.Phe9=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 2089338	NM_020631.6(PLEKHG5):c.1A>G (p.Met1Val)	LOC126805598, PLEKHG5 (M38V +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 2048700	NM_020631.6(PLEKHG5):c.43+12C>T	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1729962	NM_020631.6(PLEKHG5):c.32T>C (p.Leu11Pro)	LOC126805598, PLEKHG5 (L11P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1670014	NM_020631.6(PLEKHG5):c.36C>A (p.Pro12=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1613467	NM_020631.6(PLEKHG5):c.43+20G>A	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GLikely benign
Select item 1444886	NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn)	LOC126805598, PLEKHG5 (D41N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 1361964	NM_020631.6(PLEKHG5):c.4C>T (p.His2Tyr)	LOC126805598, PLEKHG5 (H39Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 1267050	NM_020631.6(PLEKHG5):c.-88+1321A>G	LOC129929244, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258837	NM_198681.4(PLEKHG5):c.-165+167A>G	LOC129388429, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240792	NM_198681.4(PLEKHG5):c.-165+45G>A	LOC129388429, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216050	NM_198681.4(PLEKHG5):c.-165+44G>C	LOC129388429, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192279	NM_198681.4(PLEKHG5):c.-195C>T	LOC129388429, PLEKHG5	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1192162	NM_020631.6(PLEKHG5):c.43+322G>A	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190840	NM_198681.4(PLEKHG5):c.-657G>A	LOC121967059, PLEKHG5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1190772	NM_020631.6(PLEKHG5):c.43+249C>T	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188754	NM_020631.6(PLEKHG5):c.-87-222A>C	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1078136	NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GLikely benign
Select item 1040993	NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile)	LOC126805598, PLEKHG5 (V44I +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 1015303	NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His)	LOC126805598, PLEKHG5 (R45H +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 873952	NM_020631.6(PLEKHG5):c.-66C>T	LOC126805598, PLEKHG5 (Q48* +1 more)	Single nucleotide variant (nonsense +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 873951	NM_020631.6(PLEKHG5):c.-54C>T	LOC126805598, PLEKHG5 (R52C +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 806021	NM_020631.6(PLEKHG5):c.-88+6198G>T	PLEKHG5 (G2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 673060	NM_020631.6(PLEKHG5):c.-87-95_-87-94insATCCATTAGGGAGAGCTGGCCCAGGTCGGAGC	LOC126805598, PLEKHG5	Insertion (intron variant)	not provided	GBenign
Select item 670484	NM_198681.4(PLEKHG5):c.-181C>G	LOC129388429, PLEKHG5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 668447	NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GLikely benign
Select item 618833	NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala)	PLEKHG5 (T663A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618832	NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg)	PLEKHG5 (L431R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618329	NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del)	PLEKHG5 (D304del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 568771	NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser)	LOC126805598, PLEKHG5 (P12S +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 549693	NM_020631.6(PLEKHG5):c.1438A>C (p.Met480Leu)	PLEKHG5 (M480L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GLikely pathogenic
Select item 546583	NM_020631.6(PLEKHG5):c.1748G>A (p.Arg583Gln)	PLEKHG5 (R583Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 536771	NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu)	LOC126805598, PLEKHG5 (P13L +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 516578	NM_020631.6(PLEKHG5):c.43+20G>T	PLEKHG5, LOC126805598	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 388573	NM_020631.6(PLEKHG5):c.-73C>T	PLEKHG5, LOC126805598	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 297980	NM_020631.6(PLEKHG5):c.22C>T (p.Arg8Cys)	LOC126805598, PLEKHG5 (R8C +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4	GUncertain significance
Select item 297979	NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 297978	NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)	LOC126805598, PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 297977	NM_020631.6(PLEKHG5):c.43+13G>A	LOC126805598, PLEKHG5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 297976	NM_020631.6(PLEKHG5):c.43+14_43+20del	LOC126805598, PLEKHG5	Deletion (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 246031	NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)	LOC126805598, PLEKHG5 (P12T +2 more)	Single nucleotide variant (missense variant)	PLEKHG5-related condition +4 more	GBenign/Likely benign
Select item 60777	NM_020631.6(PLEKHG5):c.38del (p.Pro13fs)	LOC126805598, PLEKHG5 (P13fs +3 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease recessive intermediate C	GPathogenic

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Links from Gene

Items: 53