PLEKHG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2990992	NM_022835.3(PLEKHG2):c.15C>T (p.Ala5=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939634	NM_022835.3(PLEKHG2):c.20G>A (p.Gly7Glu)	PLEKHG2 (G7E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722233	NM_022835.3(PLEKHG2):c.42C>G (p.Ser14Arg)	PLEKHG2 (S14R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1634078	NM_022835.3(PLEKHG2):c.51C>T (p.Leu17=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227667	NM_022835.3(PLEKHG2):c.58G>T (p.Gly20Cys)	PLEKHG2 (G20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2122857	NM_022835.3(PLEKHG2):c.103C>T (p.Arg35Trp)	PLEKHG2 (R35W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959135	NM_022835.3(PLEKHG2):c.109+11A>C	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 762270	NM_022835.3(PLEKHG2):c.110-7C>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1034015	NM_022835.3(PLEKHG2):c.112C>T (p.Pro38Ser)	PLEKHG2 (P38S)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 2013422	NM_022835.3(PLEKHG2):c.114T>C (p.Pro38=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2015250	NM_022835.3(PLEKHG2):c.118G>A (p.Ala40Thr)	PLEKHG2 (A40T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868832	NM_022835.3(PLEKHG2):c.123C>A (p.Pro41=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3307564	NM_022835.3(PLEKHG2):c.125C>T (p.Thr42Ile)	PLEKHG2 (T42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722867	NM_022835.3(PLEKHG2):c.128T>C (p.Met43Thr)	PLEKHG2 (M43T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1361967	NM_022835.3(PLEKHG2):c.137C>T (p.Pro46Leu)	PLEKHG2 (P46L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736811	NM_022835.3(PLEKHG2):c.138C>T (p.Pro46=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725696	NM_022835.3(PLEKHG2):c.138C>G (p.Pro46=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 711220	NM_022835.3(PLEKHG2):c.140G>A (p.Arg47Gln)	PLEKHG2 (R47Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 757493	NM_022835.3(PLEKHG2):c.150G>C (p.Gly50=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380366	NM_022835.3(PLEKHG2):c.155C>T (p.Ser52Phe)	PLEKHG2 (S52F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1678466	NM_022835.3(PLEKHG2):c.158C>T (p.Thr53Ile)	PLEKHG2 (T53I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2494041	NM_022835.3(PLEKHG2):c.166A>G (p.Ser56Gly)	PLEKHG2 (S56G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1384550	NM_022835.3(PLEKHG2):c.176G>A (p.Gly59Asp)	PLEKHG2 (G59D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2367411	NM_022835.3(PLEKHG2):c.208C>T (p.Pro70Ser)	PLEKHG2 (P70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1042500	NM_022835.3(PLEKHG2):c.215G>T (p.Cys72Phe)	PLEKHG2 (C72F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1926933	NM_022835.3(PLEKHG2):c.252C>T (p.Pro84=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1449995	NM_022835.3(PLEKHG2):c.256C>T (p.Arg86Cys)	PLEKHG2 (R86C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3214909	NM_022835.3(PLEKHG2):c.272C>T (p.Pro91Leu)	PLEKHG2 (P91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313727	NM_022835.3(PLEKHG2):c.274G>A (p.Val92Met)	PLEKHG2 (V92M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1425193	NM_022835.3(PLEKHG2):c.278G>A (p.Gly93Glu)	PLEKHG2 (G93E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1542056	NM_022835.3(PLEKHG2):c.300C>G (p.Pro100=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940623	NM_022835.3(PLEKHG2):c.313C>T (p.Arg105Cys)	PLEKHG2 (R105C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629743	NM_022835.3(PLEKHG2):c.324G>C (p.Arg108=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186597	NM_022835.3(PLEKHG2):c.331G>A (p.Val111Met)	PLEKHG2 (V52M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214911	NM_022835.3(PLEKHG2):c.344G>A (p.Arg115Gln)	PLEKHG2 (R115Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250415	NM_022835.3(PLEKHG2):c.365G>A (p.Arg122His)	PLEKHG2 (R63H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731181	NM_022835.3(PLEKHG2):c.366C>G (p.Arg122=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781450	NM_022835.3(PLEKHG2):c.372C>T (p.Ile124=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165759	NM_022835.3(PLEKHG2):c.378+3A>G	PLEKHG2	Single nucleotide variant (intron variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 445461	NM_022835.3(PLEKHG2):c.378+7C>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1598530	NM_022835.3(PLEKHG2):c.378+17C>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1378027	NM_022835.3(PLEKHG2):c.391C>G (p.Pro131Ala)	PLEKHG2 (P131A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050518	NM_022835.3(PLEKHG2):c.402C>T (p.Asp134=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790761	NM_022835.3(PLEKHG2):c.403G>A (p.Gly135Ser)	PLEKHG2 (G135S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725852	NM_022835.3(PLEKHG2):c.406G>A (p.Gly136Arg)	PLEKHG2 (G136R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2192205	NM_022835.3(PLEKHG2):c.423C>T (p.Ser141=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481015	NM_022835.3(PLEKHG2):c.430C>G (p.Gln144Glu)	PLEKHG2 (Q144E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725697	NM_022835.3(PLEKHG2):c.440C>T (p.Thr147Met)	PLEKHG2 (T147M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736072	NM_022835.3(PLEKHG2):c.441G>A (p.Thr147=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672764	NM_022835.3(PLEKHG2):c.468C>T (p.Tyr156=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1604112	NM_022835.3(PLEKHG2):c.472T>C (p.Phe158Leu)	PLEKHG2 (F158L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2170409	NM_022835.3(PLEKHG2):c.479+10del	PLEKHG2	Deletion (intron variant)	not provided	GLikely benign
Select item 1896950	NM_022835.3(PLEKHG2):c.479+11G>C	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1652296	NM_022835.3(PLEKHG2):c.479+12G>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945333	NM_022835.3(PLEKHG2):c.479+15G>A	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901892	NM_022835.3(PLEKHG2):c.479+17del	PLEKHG2	Deletion (intron variant)	not provided	GLikely benign
Select item 1899324	NM_022835.3(PLEKHG2):c.480-17T>G	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991706	NM_022835.3(PLEKHG2):c.480-16C>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165760	NM_022835.3(PLEKHG2):c.480-3T>C	PLEKHG2	Single nucleotide variant (intron variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 3027072	NM_022835.3(PLEKHG2):c.504C>G (p.Asn168Lys)	PLEKHG2 (N109K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759836	NM_022835.3(PLEKHG2):c.504C>T (p.Asn168=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039436	NM_022835.3(PLEKHG2):c.517G>T (p.Gly173Trp)	PLEKHG2 (G114W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1165761	NM_022835.3(PLEKHG2):c.528C>T (p.Ala176=)	PLEKHG2	Single nucleotide variant (synonymous variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 2987646	NM_022835.3(PLEKHG2):c.531G>A (p.Glu177=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596478	NM_022835.3(PLEKHG2):c.546+18G>A	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1942539	NM_022835.3(PLEKHG2):c.547-20G>A	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551600	NM_022835.3(PLEKHG2):c.547-13A>G	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741658	NM_022835.3(PLEKHG2):c.547-9C>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2179173	NM_022835.3(PLEKHG2):c.549C>T (p.Ser183=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3214914	NM_022835.3(PLEKHG2):c.553G>T (p.Asp185Tyr)	PLEKHG2 (D185Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1664175	NM_022835.3(PLEKHG2):c.555T>C (p.Asp185=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749413	NM_022835.3(PLEKHG2):c.570A>G (p.Thr190=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424686	NM_022835.3(PLEKHG2):c.590C>T (p.Pro197Leu)	PLEKHG2 (P138L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965116	NM_022835.3(PLEKHG2):c.591G>A (p.Pro197=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640152	NM_022835.3(PLEKHG2):c.594-15G>C	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3214915	NM_022835.3(PLEKHG2):c.601G>A (p.Ala201Thr)	PLEKHG2 (A142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2103844	NM_022835.3(PLEKHG2):c.607C>G (p.Leu203Val)	PLEKHG2 (L203V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522394	NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)	PLEKHG2 (R204W +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +2 more	GConflicting classifications of pathogenicity
Select item 1948024	NM_022835.3(PLEKHG2):c.620C>T (p.Ser207Leu)	PLEKHG2 (S148L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750376	NM_022835.3(PLEKHG2):c.621G>C (p.Ser207=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732478	NM_022835.3(PLEKHG2):c.621G>A (p.Ser207=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272372	NM_022835.3(PLEKHG2):c.626C>T (p.Ser209Phe)	PLEKHG2 (S209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595233	NM_022835.3(PLEKHG2):c.629C>T (p.Pro210Leu)	PLEKHG2 (P151L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3214916	NM_022835.3(PLEKHG2):c.635C>T (p.Ala212Val)	PLEKHG2 (A153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726215	NM_022835.3(PLEKHG2):c.636A>T (p.Ala212=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381629	NM_022835.3(PLEKHG2):c.664C>T (p.Gln222Ter)	PLEKHG2 (Q163* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2920202	NM_022835.3(PLEKHG2):c.677C>G (p.Ser226Trp)	PLEKHG2 (S167W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1568335	NM_022835.3(PLEKHG2):c.678G>A (p.Ser226=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513877	NM_022835.3(PLEKHG2):c.682C>G (p.Pro228Ala)	PLEKHG2 (P169A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1576907	NM_022835.3(PLEKHG2):c.696C>T (p.Phe232=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795375	NM_022835.3(PLEKHG2):c.699G>A (p.Leu233=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003404	NM_022835.3(PLEKHG2):c.741G>A (p.Leu247=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649307	NM_022835.3(PLEKHG2):c.744+18G>A	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168163	NM_022835.3(PLEKHG2):c.764C>T (p.Ala255Val)	PLEKHG2 (A196V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1590589	NM_022835.3(PLEKHG2):c.765G>A (p.Ala255=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3214917	NM_022835.3(PLEKHG2):c.779C>T (p.Thr260Ile)	PLEKHG2 (T260I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255825	NM_022835.3(PLEKHG2):c.785G>T (p.Gly262Val)	PLEKHG2 (G262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1521612	NM_022835.3(PLEKHG2):c.785G>A (p.Gly262Asp)	PLEKHG2 (G262D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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