"PreventionGenetics, part of Exact Sciences"[submitter] AND "PLEKHG5"[ - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +2 more	GLikely benign
Select item 384612	NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)	PLEKHG5 (R861C +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 387804	NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 194977	NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)	PLEKHG5	Microsatellite (inframe_deletion +1 more)	not provided +4 more	GBenign
Select item 703918	NM_020631.6(PLEKHG5):c.2034C>T (p.Thr678=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GLikely benign
Select item 194881	NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 386661	NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1774884	NM_020631.6(PLEKHG5):c.1543-2A>G	PLEKHG5	Single nucleotide variant (splice acceptor variant)	PLEKHG5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1454196	NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter)	PLEKHG5 (S430* +2 more)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GPathogenic/Likely pathogenic
Select item 378376	NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 468891	NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val)	PLEKHG5 (A340V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 297961	NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)	PLEKHG5 (D310N +3 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +4 more	GConflicting classifications of pathogenicity
Select item 297962	NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +5 more	GConflicting classifications of pathogenicity
Select item 291065	NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 198895	NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)	PLEKHG5 (T238S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 297971	NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)	PLEKHG5 (G178R +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +4 more	GConflicting classifications of pathogenicity
Select item 468916	NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu)	PLEKHG5 (P170L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 297972	NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +4 more	GBenign/Likely benign
Select item 246065	NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)	PLEKHG5 (M161T +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 245660	NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)	PLEKHG5 (V103M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +4 more	GConflicting classifications of pathogenicity
Select item 245659	NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)	PLEKHG5 (R30C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +5 more	GConflicting classifications of pathogenicity
Select item 297976	NM_020631.6(PLEKHG5):c.43+14_43+20del	LOC126805598, PLEKHG5	Deletion (intron variant)	Distal spinal muscular atrophy +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)	Charcot-Marie-Tooth disease recessive intermediate C +4 more	GBenign/Likely 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 2428557	NM_020631.6(PLEKHG5):c.-88+6208C>T	PLEKHG5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 994221	NM_020631.6(PLEKHG5):c.-88+6188G>A	PLEKHG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1050168	NM_198681.4(PLEKHG5):c.-120C>T	PLEKHG5	Single nucleotide variant (5 prime UTR variant)	PLEKHG5-related disorder +1 more	GConflicting classifications of pathogenicity

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Items: 28