ClinVar for Gene (Select 153478) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307609	NM_052909.5(PLEKHG4B):c.4367G>A (p.Gly1456Glu)	PLEKHG4B (G1456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307608	NM_052909.5(PLEKHG4B):c.3401T>C (p.Val1134Ala)	PLEKHG4B (V1134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307607	NM_052909.5(PLEKHG4B):c.1879G>A (p.Val627Ile)	PLEKHG4B (V627I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307606	NM_052909.5(PLEKHG4B):c.2722T>C (p.Cys908Arg)	PLEKHG4B (C908R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307605	NM_052909.5(PLEKHG4B):c.1139C>G (p.Ser380Cys)	PLEKHG4B (S380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307604	NM_052909.5(PLEKHG4B):c.3883C>T (p.Arg1295Cys)	PLEKHG4B (R1295C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307603	NM_052909.5(PLEKHG4B):c.4715C>T (p.Ser1572Phe)	PLEKHG4B (S1572F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307602	NM_052909.5(PLEKHG4B):c.3731A>G (p.Glu1244Gly)	PLEKHG4B (E1244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307601	NM_052909.5(PLEKHG4B):c.3080G>A (p.Arg1027His)	PLEKHG4B (R1027H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307599	NM_052909.5(PLEKHG4B):c.4382G>A (p.Arg1461Gln)	PLEKHG4B (R1461Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307598	NM_052909.5(PLEKHG4B):c.2720G>A (p.Ser907Asn)	PLEKHG4B (S907N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307597	NM_052909.5(PLEKHG4B):c.3398C>T (p.Pro1133Leu)	PLEKHG4B (P1133L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307596	NM_052909.5(PLEKHG4B):c.3248C>T (p.Thr1083Met)	PLEKHG4B (T1083M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307595	NM_052909.5(PLEKHG4B):c.2912C>T (p.Ala971Val)	PLEKHG4B (A971V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307594	NM_052909.5(PLEKHG4B):c.1726C>G (p.Arg576Gly)	PLEKHG4B (R576G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307593	NM_052909.5(PLEKHG4B):c.1722G>C (p.Gln574His)	PLEKHG4B (Q574H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307592	NM_052909.5(PLEKHG4B):c.3067G>A (p.Gly1023Arg)	PLEKHG4B (G1023R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307591	NM_052909.5(PLEKHG4B):c.2587C>G (p.Gln863Glu)	PLEKHG4B (Q863E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307590	NM_052909.5(PLEKHG4B):c.3713G>A (p.Arg1238His)	LOC126807280, PLEKHG4B (R1238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307588	NM_052909.5(PLEKHG4B):c.2053G>A (p.Ala685Thr)	PLEKHG4B (A685T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307587	NM_052909.5(PLEKHG4B):c.4292G>A (p.Arg1431Gln)	PLEKHG4B (R1431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307586	NM_052909.5(PLEKHG4B):c.3625G>A (p.Gly1209Ser)	LOC126807280, PLEKHG4B (G1209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307585	NM_052909.5(PLEKHG4B):c.4724C>G (p.Ala1575Gly)	PLEKHG4B (A1575G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307584	NM_052909.5(PLEKHG4B):c.2764G>A (p.Gly922Arg)	PLEKHG4B (G922R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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