ClinVar for Gene (Select 64857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361373	NM_022835.3(PLEKHG2):c.2531G>A (p.Arg844His)	PLEKHG2 (R785H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361372	NM_022835.3(PLEKHG2):c.895C>T (p.Arg299Trp)	PLEKHG2 (R240W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353453	NM_022835.3(PLEKHG2):c.1820G>C (p.Arg607Pro)	PLEKHG2 (R548P +1 more)	Single nucleotide variant (missense variant +1 more)	PLEKHG2-related disorder	GUncertain significance
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 3307563	NM_022835.3(PLEKHG2):c.3374C>T (p.Ala1125Val)	PLEKHG2 (A1066V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307562	NM_022835.3(PLEKHG2):c.2029G>C (p.Val677Leu)	PLEKHG2 (V677L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307561	NM_022835.3(PLEKHG2):c.1295A>C (p.His432Pro)	PLEKHG2 (H373P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307560	NM_022835.3(PLEKHG2):c.3476C>T (p.Ala1159Val)	PLEKHG2 (A1100V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307559	NM_022835.3(PLEKHG2):c.1055T>C (p.Leu352Pro)	PLEKHG2 (L293P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307558	NM_022835.3(PLEKHG2):c.1166A>G (p.His389Arg)	PLEKHG2 (H389R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307556	NM_022835.3(PLEKHG2):c.3083C>G (p.Ser1028Cys)	PLEKHG2 (S969C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307555	NM_022835.3(PLEKHG2):c.3724G>A (p.Gly1242Ser)	PLEKHG2 (G1183S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307554	NM_022835.3(PLEKHG2):c.2480G>A (p.Arg827Gln)	PLEKHG2 (R768Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307553	NM_022835.3(PLEKHG2):c.2363T>C (p.Leu788Pro)	PLEKHG2 (L788P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307552	NM_022835.3(PLEKHG2):c.817A>C (p.Met273Leu)	PLEKHG2 (M214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307551	NM_022835.3(PLEKHG2):c.3377A>G (p.Asn1126Ser)	PLEKHG2 (N1067S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3234448	NM_022835.3(PLEKHG2):c.3818A>G (p.Asn1273Ser)	PLEKHG2 (N1273S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3214919	NM_022835.3(PLEKHG2):c.893G>A (p.Arg298Gln)	PLEKHG2 (R239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214918	NM_022835.3(PLEKHG2):c.892C>T (p.Arg298Trp)	PLEKHG2 (R239W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 3214913	NM_022835.3(PLEKHG2):c.3770C>T (p.Thr1257Met)	PLEKHG2 (T1257M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214912	NM_022835.3(PLEKHG2):c.3741C>A (p.His1247Gln)	PLEKHG2 (H1188Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3214910	NM_022835.3(PLEKHG2):c.2791C>T (p.His931Tyr)	PLEKHG2 (H872Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3214907	NM_022835.3(PLEKHG2):c.2435G>A (p.Arg812Lys)	PLEKHG2 (R812K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214906	NM_022835.3(PLEKHG2):c.2369T>C (p.Ile790Thr)	PLEKHG2 (I731T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214904	NM_022835.3(PLEKHG2):c.1859G>A (p.Ser620Asn)	PLEKHG2 (S561N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214903	NM_022835.3(PLEKHG2):c.1780G>A (p.Glu594Lys)	PLEKHG2 (E594K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214902	NM_022835.3(PLEKHG2):c.1769A>G (p.Asp590Gly)	PLEKHG2 (D590G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214901	NM_022835.3(PLEKHG2):c.1685C>T (p.Thr562Ile)	PLEKHG2 (T503I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214900	NM_022835.3(PLEKHG2):c.1637T>C (p.Ile546Thr)	PLEKHG2 (I487T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214899	NM_022835.3(PLEKHG2):c.1191A>C (p.Glu397Asp)	PLEKHG2 (E338D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214898	NM_022835.3(PLEKHG2):c.1150A>G (p.Ile384Val)	PLEKHG2 (I325V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068763	NM_022835.3(PLEKHG2):c.1430G>A (p.Arg477Gln)	PLEKHG2 (R418Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063903	NM_022835.3(PLEKHG2):c.3326C>T (p.Thr1109Ile)	PLEKHG2 (T1050I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063902	NM_022835.3(PLEKHG2):c.3329C>A (p.Ser1110Ter)	PLEKHG2 (S1051* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3056486	NM_022835.3(PLEKHG2):c.*24A>G	PLEKHG2 (K1218R)	Single nucleotide variant (missense variant +1 more)	PLEKHG2-related disorder	GLikely benign
Select item 3051852	NM_022835.3(PLEKHG2):c.3324T>C (p.Gly1108=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	PLEKHG2-related disorder	GLikely benign
Select item 3051152	NM_022835.3(PLEKHG2):c.1260C>G (p.Ala420=)	PLEKHG2	Single nucleotide variant (synonymous variant)	PLEKHG2-related disorder	GLikely benign
Select item 3043249	NM_022835.3(PLEKHG2):c.930T>G (p.Ala310=)	PLEKHG2	Single nucleotide variant (synonymous variant)	PLEKHG2-related disorder	GLikely benign
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 3023763	NM_022835.3(PLEKHG2):c.3378C>T (p.Asn1126=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004061	NM_022835.3(PLEKHG2):c.895C>A (p.Arg299=)	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 2991706	NM_022835.3(PLEKHG2):c.480-16C>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991418	NM_022835.3(PLEKHG2):c.3870G>A (p.Leu1290=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990992	NM_022835.3(PLEKHG2):c.15C>T (p.Ala5=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987646	NM_022835.3(PLEKHG2):c.531G>A (p.Glu177=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980028	NM_022835.3(PLEKHG2):c.1128G>A (p.Gly376=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978495	NM_022835.3(PLEKHG2):c.1486+16G>A	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965116	NM_022835.3(PLEKHG2):c.591G>A (p.Pro197=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2880537	NM_022835.3(PLEKHG2):c.3003C>T (p.Ser1001=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2864955	NM_022835.3(PLEKHG2):c.2599+12G>A	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863440	NM_022835.3(PLEKHG2):c.1504-9T>C	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838278	NM_022835.3(PLEKHG2):c.2453G>C (p.Arg818Pro)	PLEKHG2 (R818P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795375	NM_022835.3(PLEKHG2):c.699G>A (p.Leu233=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790227	NM_022835.3(PLEKHG2):c.2920G>C (p.Asp974His)	PLEKHG2 (D974H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2775619	NM_022835.3(PLEKHG2):c.1084-20A>G	PLEKHG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721481	NM_022835.3(PLEKHG2):c.3399G>A (p.Gln1133=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717515	NM_022835.3(PLEKHG2):c.2578C>T (p.Pro860Ser)	PLEKHG2 (P801S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2717514	NM_022835.3(PLEKHG2):c.1485C>T (p.Asn495=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2715333	NM_022835.3(PLEKHG2):c.1002G>A (p.Glu334=)	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 2664600	NM_022835.3(PLEKHG2):c.2447G>C (p.Arg816Pro)	PLEKHG2 (R757P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664599	NM_022835.3(PLEKHG2):c.1171C>T (p.Leu391Phe)	PLEKHG2 (L332F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649834	NM_022835.3(PLEKHG2):c.2020A>G (p.Ile674Val)	PLEKHG2 (I615V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2649833	NM_022835.3(PLEKHG2):c.1446T>C (p.Ser482=)	PLEKHG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597047	NM_022835.3(PLEKHG2):c.3874C>T (p.Arg1292Trp)	PLEKHG2 (R1292W)	Single nucleotide variant (missense variant +1 more)	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 2584971	NM_022835.3(PLEKHG2):c.1270C>T (p.Gln424Ter)	PLEKHG2 (Q424* +1 more)	Single nucleotide variant (nonsense)	Leukodystrophy and acquired microcephaly with or without dystonia;	GLikely pathogenic
Select item 2577155	NM_022835.3(PLEKHG2):c.1899del (p.Ile635fs)	PLEKHG2 (I576fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2573612	NM_022835.3(PLEKHG2):c.4085C>T (p.Ala1362Val)	PLEKHG2 (A1362V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571044	NM_022835.3(PLEKHG2):c.3958C>T (p.Pro1320Ser)	PLEKHG2 (P1320S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2553259	NM_022835.3(PLEKHG2):c.2747G>T (p.Gly916Val)	PLEKHG2 (G857V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551539	NM_022835.3(PLEKHG2):c.1906C>T (p.Pro636Ser)	PLEKHG2 (P577S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545451	NM_022835.3(PLEKHG2):c.1765C>T (p.Arg589Trp)	PLEKHG2 (R530W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540263	NM_022835.3(PLEKHG2):c.4156A>G (p.Met1386Val)	PLEKHG2 (M1386V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2521763	NM_022835.3(PLEKHG2):c.2509C>T (p.Arg837Trp)	PLEKHG2 (R837W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516466	NM_022835.3(PLEKHG2):c.1570C>G (p.Pro524Ala)	PLEKHG2 (P465A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2498778	NM_022835.3(PLEKHG2):c.1734C>T (p.Ser578=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2486101	NM_022835.3(PLEKHG2):c.3106A>T (p.Thr1036Ser)	PLEKHG2 (T1036S +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GUncertain significance
Select item 2465458	NM_022835.3(PLEKHG2):c.2283C>G (p.Phe761Leu)	PLEKHG2 (F761L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2421023	NM_022835.3(PLEKHG2):c.1819C>A (p.Arg607=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2420684	NM_022835.3(PLEKHG2):c.2172G>C (p.Pro724=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2420571	NM_022835.3(PLEKHG2):c.3330A>C (p.Ser1110=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416159	NM_022835.3(PLEKHG2):c.3303C>T (p.Leu1101=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2415142	NM_022835.3(PLEKHG2):c.3782G>A (p.Ser1261Asn)	PLEKHG2 (S1261N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414875	NM_022835.3(PLEKHG2):c.3927C>T (p.Ser1309=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413607	NM_022835.3(PLEKHG2):c.2145G>C (p.Gly715=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406637	NM_022835.3(PLEKHG2):c.2854G>C (p.Ala952Pro)	PLEKHG2 (A893P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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