"Ambry Genetics"[submitter] AND "PLEKHG4B"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607957	NM_052909.5(PLEKHG4B):c.1210C>A (p.Pro404Thr)	PLEKHG4B (P404T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517505	NM_052909.5(PLEKHG4B):c.1213C>T (p.Arg405Trp)	PLEKHG4B (R405W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518438	NM_052909.5(PLEKHG4B):c.1216G>A (p.Gly406Arg)	PLEKHG4B (G406R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407266	NM_052909.5(PLEKHG4B):c.1249G>A (p.Glu417Lys)	PLEKHG4B (E417K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293177	NM_052909.5(PLEKHG4B):c.1270A>C (p.Thr424Pro)	PLEKHG4B (T424P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399340	NM_052909.5(PLEKHG4B):c.1288G>A (p.Gly430Arg)	PLEKHG4B (G430R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321144	NM_052909.5(PLEKHG4B):c.1328C>T (p.Ala443Val)	PLEKHG4B (A443V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380765	NM_052909.5(PLEKHG4B):c.1358C>T (p.Ala453Val)	PLEKHG4B (A453V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346246	NM_052909.5(PLEKHG4B):c.1529G>T (p.Cys510Phe)	PLEKHG4B (C510F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603282	NM_052909.5(PLEKHG4B):c.1537C>A (p.Pro513Thr)	PLEKHG4B (P513T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353766	NM_052909.5(PLEKHG4B):c.1543G>A (p.Gly515Arg)	PLEKHG4B (G515R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239115	NM_052909.5(PLEKHG4B):c.1547C>A (p.Pro516His)	PLEKHG4B (P516H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618653	NM_052909.5(PLEKHG4B):c.1564C>T (p.Arg522Trp)	PLEKHG4B (R522W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352466	NM_052909.5(PLEKHG4B):c.1565G>A (p.Arg522Gln)	PLEKHG4B (R522Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2267596	NM_052909.5(PLEKHG4B):c.1579G>A (p.Glu527Lys)	PLEKHG4B (E527K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383856	NM_052909.5(PLEKHG4B):c.1645G>A (p.Val549Ile)	PLEKHG4B (V549I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253821	NM_052909.5(PLEKHG4B):c.1700G>A (p.Arg567His)	PLEKHG4B (R567H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472600	NM_052909.5(PLEKHG4B):c.1712C>G (p.Ala571Gly)	PLEKHG4B (A571G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489282	NM_052909.5(PLEKHG4B):c.1726C>T (p.Arg576Cys)	PLEKHG4B (R576C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2235403	NM_052909.5(PLEKHG4B):c.1729A>G (p.Thr577Ala)	PLEKHG4B (T577A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273866	NM_052909.5(PLEKHG4B):c.1849G>A (p.Asp617Asn)	PLEKHG4B (D617N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483900	NM_052909.5(PLEKHG4B):c.2058C>A (p.Asp686Glu)	PLEKHG4B (D686E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520677	NM_052909.5(PLEKHG4B):c.2126C>T (p.Ala709Val)	PLEKHG4B (A709V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326184	NM_052909.5(PLEKHG4B):c.2191A>G (p.Thr731Ala)	PLEKHG4B (T731A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608439	NM_052909.5(PLEKHG4B):c.2192C>T (p.Thr731Ile)	PLEKHG4B (T731I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341187	NM_052909.5(PLEKHG4B):c.2203G>T (p.Ala735Ser)	PLEKHG4B (A735S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411230	NM_052909.5(PLEKHG4B):c.2297G>C (p.Gly766Ala)	PLEKHG4B (G766A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227265	NM_052909.5(PLEKHG4B):c.2305C>G (p.Leu769Val)	PLEKHG4B (L769V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615644	NM_052909.5(PLEKHG4B):c.2365G>A (p.Ala789Thr)	PLEKHG4B (A789T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386322	NM_052909.5(PLEKHG4B):c.2384G>A (p.Arg795Gln)	PLEKHG4B (R795Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513433	NM_052909.5(PLEKHG4B):c.2492C>G (p.Ser831Cys)	PLEKHG4B (S831C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214443	NM_052909.5(PLEKHG4B):c.2516C>T (p.Ala839Val)	PLEKHG4B (A839V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2238770	NM_052909.5(PLEKHG4B):c.2530C>A (p.Gln844Lys)	PLEKHG4B (Q844K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601099	NM_052909.5(PLEKHG4B):c.2534G>A (p.Arg845His)	PLEKHG4B (R845H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534813	NM_052909.5(PLEKHG4B):c.2578G>A (p.Val860Met)	PLEKHG4B (V860M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588446	NM_052909.5(PLEKHG4B):c.2626C>T (p.Arg876Cys)	PLEKHG4B (R876C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205146	NM_052909.5(PLEKHG4B):c.2630C>T (p.Ser877Leu)	PLEKHG4B (S877L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321716	NM_052909.5(PLEKHG4B):c.2732A>G (p.Glu911Gly)	PLEKHG4B (E911G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357699	NM_052909.5(PLEKHG4B):c.2755G>A (p.Ala919Thr)	PLEKHG4B (A919T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375250	NM_052909.5(PLEKHG4B):c.2771G>C (p.Gly924Ala)	PLEKHG4B (G924A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341090	NM_052909.5(PLEKHG4B):c.2807C>T (p.Pro936Leu)	PLEKHG4B (P936L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2472958	NM_052909.5(PLEKHG4B):c.2813C>T (p.Ala938Val)	PLEKHG4B (A938V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529398	NM_052909.5(PLEKHG4B):c.2842C>T (p.Pro948Ser)	PLEKHG4B (P948S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283462	NM_052909.5(PLEKHG4B):c.2852G>A (p.Arg951Gln)	PLEKHG4B (R951Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288884	NM_052909.5(PLEKHG4B):c.2893C>G (p.Pro965Ala)	PLEKHG4B (P965A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282857	NM_052909.5(PLEKHG4B):c.2903C>T (p.Pro968Leu)	PLEKHG4B (P968L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312895	NM_052909.5(PLEKHG4B):c.2936G>A (p.Arg979His)	PLEKHG4B (R979H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371700	NM_052909.5(PLEKHG4B):c.2994T>G (p.Ser998Arg)	PLEKHG4B (S998R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606445	NM_052909.5(PLEKHG4B):c.2996G>C (p.Gly999Ala)	PLEKHG4B (G999A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523473	NM_052909.5(PLEKHG4B):c.3010G>A (p.Glu1004Lys)	PLEKHG4B (E1004K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399988	NM_052909.5(PLEKHG4B):c.3017C>T (p.Ala1006Val)	PLEKHG4B (A1006V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511817	NM_052909.5(PLEKHG4B):c.3031G>A (p.Gly1011Ser)	PLEKHG4B (G1011S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221928	NM_052909.5(PLEKHG4B):c.3091T>C (p.Cys1031Arg)	PLEKHG4B (C1031R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267868	NM_052909.5(PLEKHG4B):c.3107C>G (p.Pro1036Arg)	PLEKHG4B (P1036R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547267	NM_052909.5(PLEKHG4B):c.3140G>A (p.Gly1047Glu)	PLEKHG4B (G1047E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600662	NM_052909.5(PLEKHG4B):c.3184G>A (p.Glu1062Lys)	PLEKHG4B (E1062K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548048	NM_052909.5(PLEKHG4B):c.3205A>C (p.Ser1069Arg)	PLEKHG4B (S1069R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454484	NM_052909.5(PLEKHG4B):c.3208C>A (p.Arg1070Ser)	PLEKHG4B (R1070S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604516	NM_052909.5(PLEKHG4B):c.3408G>C (p.Gln1136His)	PLEKHG4B (Q1136H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293807	NM_052909.5(PLEKHG4B):c.3455A>G (p.Asp1152Gly)	PLEKHG4B (D1152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482640	NM_052909.5(PLEKHG4B):c.3470T>C (p.Val1157Ala)	PLEKHG4B (V1157A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517129	NM_052909.5(PLEKHG4B):c.3482G>A (p.Arg1161Gln)	LOC126807280, PLEKHG4B (R1161Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231060	NM_052909.5(PLEKHG4B):c.3602G>A (p.Arg1201Gln)	LOC126807280, PLEKHG4B (R1201Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612812	NM_052909.5(PLEKHG4B):c.3682C>G (p.Arg1228Gly)	LOC126807280, PLEKHG4B (R1228G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241982	NM_052909.5(PLEKHG4B):c.3850G>T (p.Asp1284Tyr)	PLEKHG4B (D1284Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590963	NM_052909.5(PLEKHG4B):c.3872G>A (p.Arg1291Gln)	PLEKHG4B (R1291Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241864	NM_052909.5(PLEKHG4B):c.3928G>A (p.Ala1310Thr)	PLEKHG4B (A1310T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217014	NM_052909.5(PLEKHG4B):c.3971G>A (p.Arg1324Gln)	PLEKHG4B (R1324Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477211	NM_052909.5(PLEKHG4B):c.4009G>A (p.Gly1337Ser)	PLEKHG4B (G1337S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357508	NM_052909.5(PLEKHG4B):c.4013A>G (p.Asn1338Ser)	PLEKHG4B (N1338S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331735	NM_052909.5(PLEKHG4B):c.4183G>C (p.Gly1395Arg)	PLEKHG4B (G1395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252920	NM_052909.5(PLEKHG4B):c.4186A>G (p.Ser1396Gly)	PLEKHG4B (S1396G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2366673	NM_052909.5(PLEKHG4B):c.4195G>A (p.Val1399Ile)	PLEKHG4B (V1399I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480922	NM_052909.5(PLEKHG4B):c.4250T>C (p.Val1417Ala)	PLEKHG4B (V1417A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410717	NM_052909.5(PLEKHG4B):c.4286G>A (p.Arg1429His)	PLEKHG4B (R1429H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392000	NM_052909.5(PLEKHG4B):c.4294C>T (p.Arg1432Trp)	PLEKHG4B (R1432W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380874	NM_052909.5(PLEKHG4B):c.4339G>A (p.Val1447Ile)	PLEKHG4B (V1447I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331929	NM_052909.5(PLEKHG4B):c.4409G>A (p.Arg1470Lys)	PLEKHG4B (R1470K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541706	NM_052909.5(PLEKHG4B):c.4447C>G (p.Pro1483Ala)	PLEKHG4B (P1483A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217756	NM_052909.5(PLEKHG4B):c.4475G>A (p.Arg1492Gln)	PLEKHG4B (R1492Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2212103	NM_052909.5(PLEKHG4B):c.4490C>T (p.Ala1497Val)	PLEKHG4B (A1497V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332814	NM_052909.5(PLEKHG4B):c.4505G>A (p.Arg1502Gln)	PLEKHG4B (R1502Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259352	NM_052909.5(PLEKHG4B):c.4508C>T (p.Ala1503Val)	PLEKHG4B (A1503V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221030	NM_052909.5(PLEKHG4B):c.4543G>A (p.Asp1515Asn)	PLEKHG4B (D1515N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588479	NM_052909.5(PLEKHG4B):c.4622A>C (p.Lys1541Thr)	PLEKHG4B (K1541T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481323	NM_052909.5(PLEKHG4B):c.4625G>A (p.Arg1542Gln)	PLEKHG4B (R1542Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570403	NM_052909.5(PLEKHG4B):c.4647C>G (p.Asp1549Glu)	PLEKHG4B (D1549E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544044	NM_052909.5(PLEKHG4B):c.4700G>A (p.Gly1567Asp)	PLEKHG4B (G1567D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212951	NM_052909.5(PLEKHG4B):c.4700G>T (p.Gly1567Val)	PLEKHG4B (G1567V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525377	NM_052909.5(PLEKHG4B):c.4747G>A (p.Ala1583Thr)	PLEKHG4B (A1583T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279517	NM_052909.5(PLEKHG4B):c.4760G>T (p.Trp1587Leu)	PLEKHG4B (W1587L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351254	NM_052909.5(PLEKHG4B):c.4783G>A (p.Val1595Ile)	PLEKHG4B (V1595I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384951	NM_052909.5(PLEKHG4B):c.4868G>A (p.Arg1623His)	PLEKHG4B (R1623H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 93