"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PLEKHG5"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195527	NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)	PLEKHG5 (L907P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 245769	NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln)	PLEKHG5 (R842Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1300633	NM_020631.6(PLEKHG5):c.2021G>A (p.Gly674Asp)	PLEKHG5 (G674D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60780	NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)	PLEKHG5 (T663M +3 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GUncertain significance
Select item 1398214	NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys)	PLEKHG5 (R662K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1163123	NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)	PLEKHG5 (E580* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 1063888	NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met)	PLEKHG5 (V541M +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GUncertain significance
Select item 1053176	NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu)	PLEKHG5 (R520L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +2 more	GUncertain significance
Select item 1163124	NM_020631.6(PLEKHG5):c.1430T>A (p.Leu477Gln)	PLEKHG5 (L477Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 658159	NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr)	PLEKHG5 (M496T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1345761	NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly)	PLEKHG5 (E450G +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more	GUncertain significance
Select item 1163125	NM_020631.6(PLEKHG5):c.1102A>T (p.Asn368Tyr)	PLEKHG5 (N368Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 234903	NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr)	PLEKHG5 (I324T +3 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance
Select item 297961	NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)	PLEKHG5 (D310N +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1499000	NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg)	PLEKHG5 (G284R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 198894	NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)	PLEKHG5 (D240G +3 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GConflicting classifications of pathogenicity
Select item 426957	NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn)	PLEKHG5 (D240N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 246293	NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His)	PLEKHG5 (R184H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841491	NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)	PLEKHG5 (R242W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 423836	NM_020631.6(PLEKHG5):c.440-2A>G	PLEKHG5	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 245731	NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile)	PLEKHG5 (T132I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 575121	NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu)	PLEKHG5 (P29L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 245987	NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu)	PLEKHG5 (P28L +3 more)	Single nucleotide variant (missense variant)	Testicular atrophy +4 more	GUncertain significance
Select item 196499	NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp)	PLEKHG5 (R25W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1162830	NM_198681.4(PLEKHG5):c.-99C>T	PLEKHG5 (R5W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1050168	NM_198681.4(PLEKHG5):c.-120C>T	PLEKHG5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 27