ClinVar for Gene (Select 153478) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215000	NM_052909.5(PLEKHG4B):c.1145C>G (p.Thr382Ser)	PLEKHG4B (T382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214999	NM_052909.5(PLEKHG4B):c.1780C>A (p.Arg594Ser)	PLEKHG4B (R594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214997	NM_052909.5(PLEKHG4B):c.1631A>G (p.Lys544Arg)	PLEKHG4B (K544R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214996	NM_052909.5(PLEKHG4B):c.1600G>A (p.Gly534Ser)	PLEKHG4B (G534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214995	NM_052909.5(PLEKHG4B):c.1552G>A (p.Asp518Asn)	PLEKHG4B (D518N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214994	NM_052909.5(PLEKHG4B):c.4817C>T (p.Thr1606Met)	PLEKHG4B (T1606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214993	NM_052909.5(PLEKHG4B):c.4730C>T (p.Pro1577Leu)	PLEKHG4B (P1577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214992	NM_052909.5(PLEKHG4B):c.4589C>T (p.Ala1530Val)	PLEKHG4B (A1530V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214991	NM_052909.5(PLEKHG4B):c.4535G>C (p.Arg1512Pro)	PLEKHG4B (R1512P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214989	NM_052909.5(PLEKHG4B):c.4348G>A (p.Ala1450Thr)	PLEKHG4B (A1450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214988	NM_052909.5(PLEKHG4B):c.4066C>G (p.Gln1356Glu)	PLEKHG4B (Q1356E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214986	NM_052909.5(PLEKHG4B):c.3547G>A (p.Val1183Ile)	LOC126807280, PLEKHG4B (V1183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214985	NM_052909.5(PLEKHG4B):c.3535T>C (p.Cys1179Arg)	PLEKHG4B, LOC126807280 (C1179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214984	NM_052909.5(PLEKHG4B):c.1307G>A (p.Arg436Lys)	PLEKHG4B (R436K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214983	NM_052909.5(PLEKHG4B):c.3412C>T (p.Arg1138Trp)	PLEKHG4B (R1138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214981	NM_052909.5(PLEKHG4B):c.3394C>T (p.Pro1132Ser)	PLEKHG4B (P1132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214980	NM_052909.5(PLEKHG4B):c.3242A>T (p.Lys1081Met)	PLEKHG4B (K1081M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214979	NM_052909.5(PLEKHG4B):c.3240A>G (p.Ile1080Met)	PLEKHG4B (I1080M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214978	NM_052909.5(PLEKHG4B):c.3148A>G (p.Thr1050Ala)	PLEKHG4B (T1050A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214977	NM_052909.5(PLEKHG4B):c.2981C>G (p.Pro994Arg)	PLEKHG4B (P994R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214976	NM_052909.5(PLEKHG4B):c.2948C>T (p.Ala983Val)	PLEKHG4B (A983V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214975	NM_052909.5(PLEKHG4B):c.2858G>A (p.Arg953His)	PLEKHG4B (R953H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214974	NM_052909.5(PLEKHG4B):c.2665G>A (p.Gly889Arg)	PLEKHG4B (G889R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214973	NM_052909.5(PLEKHG4B):c.2627G>A (p.Arg876His)	PLEKHG4B (R876H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214972	NM_052909.5(PLEKHG4B):c.2618G>A (p.Arg873Lys)	PLEKHG4B (R873K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214971	NM_052909.5(PLEKHG4B):c.2528C>T (p.Pro843Leu)	PLEKHG4B (P843L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214969	NM_052909.5(PLEKHG4B):c.2249A>G (p.Lys750Arg)	PLEKHG4B (K750R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214968	NM_052909.5(PLEKHG4B):c.1180G>C (p.Ala394Pro)	PLEKHG4B (A394P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062863	GRCh37/hg19 5p15.33(chr5:113576-676873)x3	AHRR, CCDC127 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655237	NM_052909.5(PLEKHG4B):c.4041C>T (p.Arg1347=)	PLEKHG4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655236	NM_052909.5(PLEKHG4B):c.1312C>A (p.Arg438=)	PLEKHG4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618653	NM_052909.5(PLEKHG4B):c.1564C>T (p.Arg522Trp)	PLEKHG4B (R522W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615644	NM_052909.5(PLEKHG4B):c.2365G>A (p.Ala789Thr)	PLEKHG4B (A789T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612812	NM_052909.5(PLEKHG4B):c.3682C>G (p.Arg1228Gly)	LOC126807280, PLEKHG4B (R1228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608439	NM_052909.5(PLEKHG4B):c.2192C>T (p.Thr731Ile)	PLEKHG4B (T731I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607957	NM_052909.5(PLEKHG4B):c.1210C>A (p.Pro404Thr)	PLEKHG4B (P404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606445	NM_052909.5(PLEKHG4B):c.2996G>C (p.Gly999Ala)	PLEKHG4B (G999A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604516	NM_052909.5(PLEKHG4B):c.3408G>C (p.Gln1136His)	PLEKHG4B (Q1136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603282	NM_052909.5(PLEKHG4B):c.1537C>A (p.Pro513Thr)	PLEKHG4B (P513T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601099	NM_052909.5(PLEKHG4B):c.2534G>A (p.Arg845His)	PLEKHG4B (R845H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600662	NM_052909.5(PLEKHG4B):c.3184G>A (p.Glu1062Lys)	PLEKHG4B (E1062K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590963	NM_052909.5(PLEKHG4B):c.3872G>A (p.Arg1291Gln)	PLEKHG4B (R1291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588479	NM_052909.5(PLEKHG4B):c.4622A>C (p.Lys1541Thr)	PLEKHG4B (K1541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588446	NM_052909.5(PLEKHG4B):c.2626C>T (p.Arg876Cys)	PLEKHG4B (R876C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2570403	NM_052909.5(PLEKHG4B):c.4647C>G (p.Asp1549Glu)	PLEKHG4B (D1549E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548048	NM_052909.5(PLEKHG4B):c.3205A>C (p.Ser1069Arg)	PLEKHG4B (S1069R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547267	NM_052909.5(PLEKHG4B):c.3140G>A (p.Gly1047Glu)	PLEKHG4B (G1047E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544044	NM_052909.5(PLEKHG4B):c.4700G>A (p.Gly1567Asp)	PLEKHG4B (G1567D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541706	NM_052909.5(PLEKHG4B):c.4447C>G (p.Pro1483Ala)	PLEKHG4B (P1483A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534813	NM_052909.5(PLEKHG4B):c.2578G>A (p.Val860Met)	PLEKHG4B (V860M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529398	NM_052909.5(PLEKHG4B):c.2842C>T (p.Pro948Ser)	PLEKHG4B (P948S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525377	NM_052909.5(PLEKHG4B):c.4747G>A (p.Ala1583Thr)	PLEKHG4B (A1583T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523473	NM_052909.5(PLEKHG4B):c.3010G>A (p.Glu1004Lys)	PLEKHG4B (E1004K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520677	NM_052909.5(PLEKHG4B):c.2126C>T (p.Ala709Val)	PLEKHG4B (A709V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518438	NM_052909.5(PLEKHG4B):c.1216G>A (p.Gly406Arg)	PLEKHG4B (G406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517505	NM_052909.5(PLEKHG4B):c.1213C>T (p.Arg405Trp)	PLEKHG4B (R405W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517129	NM_052909.5(PLEKHG4B):c.3482G>A (p.Arg1161Gln)	LOC126807280, PLEKHG4B (R1161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513433	NM_052909.5(PLEKHG4B):c.2492C>G (p.Ser831Cys)	PLEKHG4B (S831C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511817	NM_052909.5(PLEKHG4B):c.3031G>A (p.Gly1011Ser)	PLEKHG4B (G1011S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489282	NM_052909.5(PLEKHG4B):c.1726C>T (p.Arg576Cys)	PLEKHG4B (R576C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483900	NM_052909.5(PLEKHG4B):c.2058C>A (p.Asp686Glu)	PLEKHG4B (D686E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482640	NM_052909.5(PLEKHG4B):c.3470T>C (p.Val1157Ala)	PLEKHG4B (V1157A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481323	NM_052909.5(PLEKHG4B):c.4625G>A (p.Arg1542Gln)	PLEKHG4B (R1542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480922	NM_052909.5(PLEKHG4B):c.4250T>C (p.Val1417Ala)	PLEKHG4B (V1417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477211	NM_052909.5(PLEKHG4B):c.4009G>A (p.Gly1337Ser)	PLEKHG4B (G1337S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472958	NM_052909.5(PLEKHG4B):c.2813C>T (p.Ala938Val)	PLEKHG4B (A938V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472600	NM_052909.5(PLEKHG4B):c.1712C>G (p.Ala571Gly)	PLEKHG4B (A571G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454484	NM_052909.5(PLEKHG4B):c.3208C>A (p.Arg1070Ser)	PLEKHG4B (R1070S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411230	NM_052909.5(PLEKHG4B):c.2297G>C (p.Gly766Ala)	PLEKHG4B (G766A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410717	NM_052909.5(PLEKHG4B):c.4286G>A (p.Arg1429His)	PLEKHG4B (R1429H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407266	NM_052909.5(PLEKHG4B):c.1249G>A (p.Glu417Lys)	PLEKHG4B (E417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399988	NM_052909.5(PLEKHG4B):c.3017C>T (p.Ala1006Val)	PLEKHG4B (A1006V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399340	NM_052909.5(PLEKHG4B):c.1288G>A (p.Gly430Arg)	PLEKHG4B (G430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392000	NM_052909.5(PLEKHG4B):c.4294C>T (p.Arg1432Trp)	PLEKHG4B (R1432W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386322	NM_052909.5(PLEKHG4B):c.2384G>A (p.Arg795Gln)	PLEKHG4B (R795Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384951	NM_052909.5(PLEKHG4B):c.4868G>A (p.Arg1623His)	PLEKHG4B (R1623H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383856	NM_052909.5(PLEKHG4B):c.1645G>A (p.Val549Ile)	PLEKHG4B (V549I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380874	NM_052909.5(PLEKHG4B):c.4339G>A (p.Val1447Ile)	PLEKHG4B (V1447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380765	NM_052909.5(PLEKHG4B):c.1358C>T (p.Ala453Val)	PLEKHG4B (A453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375250	NM_052909.5(PLEKHG4B):c.2771G>C (p.Gly924Ala)	PLEKHG4B (G924A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371700	NM_052909.5(PLEKHG4B):c.2994T>G (p.Ser998Arg)	PLEKHG4B (S998R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366673	NM_052909.5(PLEKHG4B):c.4195G>A (p.Val1399Ile)	PLEKHG4B (V1399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357699	NM_052909.5(PLEKHG4B):c.2755G>A (p.Ala919Thr)	PLEKHG4B (A919T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357508	NM_052909.5(PLEKHG4B):c.4013A>G (p.Asn1338Ser)	PLEKHG4B (N1338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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