PLEKHA6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	AVPR1B, AVPR1B-DT +278 more	Deletion	Autism	GLikely pathogenic
Select item 2218103	NM_014935.5(PLEKHA6):c.3134C>A (p.Thr1045Asn)	PLEKHA6 (T1045N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252544	NM_014935.5(PLEKHA6):c.3116G>A (p.Gly1039Asp)	PLEKHA6 (G1039D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639826	NM_014935.5(PLEKHA6):c.3086C>T (p.Ala1029Val)	PLEKHA6 (A1029V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2350169	NM_014935.5(PLEKHA6):c.3022A>C (p.Met1008Leu)	PLEKHA6 (M1008L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214811	NM_014935.5(PLEKHA6):c.2989G>A (p.Ala997Thr)	PLEKHA6 (A997T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595396	NM_014935.5(PLEKHA6):c.2929G>A (p.Val977Met)	PLEKHA6 (V977M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454673	NM_014935.5(PLEKHA6):c.2906T>C (p.Ile969Thr)	PLEKHA6 (I969T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525273	NM_014935.5(PLEKHA6):c.2798T>G (p.Leu933Arg)	PLEKHA6 (L933R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252953	NM_014935.5(PLEKHA6):c.2798T>C (p.Leu933Pro)	PLEKHA6 (L933P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374169	NM_014935.5(PLEKHA6):c.2785C>T (p.Arg929Trp)	PLEKHA6 (R929W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621722	NM_014935.5(PLEKHA6):c.2756C>T (p.Ser919Phe)	PLEKHA6 (S919F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259147	NM_014935.5(PLEKHA6):c.2716G>C (p.Glu906Gln)	PLEKHA6 (E906Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210199	NM_014935.5(PLEKHA6):c.2696G>A (p.Arg899Gln)	PLEKHA6 (R899Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378519	NM_014935.5(PLEKHA6):c.2695C>T (p.Arg899Trp)	PLEKHA6 (R899W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214810	NM_014935.5(PLEKHA6):c.2681G>A (p.Arg894Gln)	PLEKHA6 (R894Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214809	NM_014935.5(PLEKHA6):c.2663A>G (p.His888Arg)	PLEKHA6 (H888R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262365	NM_014935.5(PLEKHA6):c.2659G>A (p.Gly887Arg)	PLEKHA6 (G887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508214	NM_014935.5(PLEKHA6):c.2597G>A (p.Arg866His)	PLEKHA6 (R866H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214808	NM_014935.5(PLEKHA6):c.2588G>A (p.Arg863His)	PLEKHA6 (R863H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226817	NM_014935.5(PLEKHA6):c.2567G>A (p.Arg856Gln)	PLEKHA6 (R856Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214807	NM_014935.5(PLEKHA6):c.2563C>G (p.Pro855Ala)	PLEKHA6 (P855A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352534	NM_014935.5(PLEKHA6):c.2519G>A (p.Arg840Gln)	PLEKHA6 (R840Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401396	NM_014935.5(PLEKHA6):c.2518C>T (p.Arg840Trp)	PLEKHA6 (R840W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310896	NM_014935.5(PLEKHA6):c.2485C>T (p.Arg829Trp)	PLEKHA6 (R829W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409388	NM_014935.5(PLEKHA6):c.2384G>A (p.Gly795Glu)	PLEKHA6 (G795E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214806	NM_014935.5(PLEKHA6):c.2343T>A (p.Asp781Glu)	PLEKHA6 (D781E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237154	NM_014935.5(PLEKHA6):c.2312T>C (p.Val771Ala)	PLEKHA6 (V771A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600309	NM_014935.5(PLEKHA6):c.2308G>A (p.Val770Ile)	PLEKHA6 (V770I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521665	NM_014935.5(PLEKHA6):c.2243T>A (p.Ile748Asn)	PLEKHA6 (I748N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469588	NM_014935.5(PLEKHA6):c.2170G>A (p.Glu724Lys)	PLEKHA6 (E724K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384754	NM_014935.5(PLEKHA6):c.2117C>T (p.Pro706Leu)	PLEKHA6 (P706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616577	NM_014935.5(PLEKHA6):c.2018C>A (p.Thr673Asn)	PLEKHA6 (T673N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492514	NM_014935.5(PLEKHA6):c.2018C>T (p.Thr673Ile)	PLEKHA6 (T673I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214804	NM_014935.5(PLEKHA6):c.2006G>A (p.Arg669Gln)	PLEKHA6 (R669Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342555	NM_014935.5(PLEKHA6):c.2005C>T (p.Arg669Trp)	PLEKHA6 (R669W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214803	NM_014935.5(PLEKHA6):c.1960A>G (p.Arg654Gly)	PLEKHA6 (R654G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364088	NM_014935.5(PLEKHA6):c.1937G>A (p.Arg646Gln)	PLEKHA6 (R646Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214801	NM_014935.5(PLEKHA6):c.1916C>T (p.Thr639Ile)	PLEKHA6 (T639I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397337	NM_014935.5(PLEKHA6):c.1832C>G (p.Thr611Arg)	PLEKHA6 (T611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315988	NM_014935.5(PLEKHA6):c.1825G>A (p.Ala609Thr)	PLEKHA6 (A609T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315779	NM_014935.5(PLEKHA6):c.1823C>T (p.Thr608Met)	PLEKHA6 (T608M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470971	NM_014935.5(PLEKHA6):c.1738G>A (p.Ala580Thr)	PLEKHA6 (A580T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347353	NM_014935.5(PLEKHA6):c.1664G>A (p.Arg555Gln)	PLEKHA6 (R555Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371579	NM_014935.5(PLEKHA6):c.1645C>T (p.Arg549Trp)	PLEKHA6 (R549W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235717	NM_014935.5(PLEKHA6):c.1513A>G (p.Ser505Gly)	PLEKHA6 (S505G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360860	NM_014935.5(PLEKHA6):c.1460G>A (p.Arg487His)	PLEKHA6 (R487H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545713	NM_014935.5(PLEKHA6):c.1459C>T (p.Arg487Cys)	PLEKHA6 (R487C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398300	NM_014935.5(PLEKHA6):c.1456C>T (p.Pro486Ser)	PLEKHA6 (P486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229548	NM_014935.5(PLEKHA6):c.1433G>C (p.Ser478Thr)	PLEKHA6 (S478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214798	NM_014935.5(PLEKHA6):c.1423C>T (p.Arg475Cys)	PLEKHA6 (R475C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264096	NM_014935.5(PLEKHA6):c.1372C>T (p.Arg458Cys)	PLEKHA6 (R458C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214797	NM_014935.5(PLEKHA6):c.1337G>A (p.Arg446His)	PLEKHA6 (R446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615525	NM_014935.5(PLEKHA6):c.1334G>A (p.Arg445His)	PLEKHA6 (R445H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268024	NM_014935.5(PLEKHA6):c.1325G>A (p.Ser442Asn)	PLEKHA6 (S442N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289404	NM_014935.5(PLEKHA6):c.1318G>A (p.Ala440Thr)	PLEKHA6 (A440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274855	NM_014935.5(PLEKHA6):c.1294G>T (p.Val432Phe)	PLEKHA6 (V432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589308	NM_014935.5(PLEKHA6):c.1249C>T (p.Arg417Trp)	PLEKHA6 (R417W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214796	NM_014935.5(PLEKHA6):c.1237G>C (p.Ala413Pro)	PLEKHA6 (A413P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359512	NM_014935.5(PLEKHA6):c.1202G>T (p.Gly401Val)	PLEKHA6 (G401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401805	NM_014935.5(PLEKHA6):c.1198G>A (p.Gly400Ser)	PLEKHA6 (G400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214795	NM_014935.5(PLEKHA6):c.1189C>T (p.Arg397Cys)	PLEKHA6 (R397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214794	NM_014935.5(PLEKHA6):c.1154C>T (p.Pro385Leu)	PLEKHA6 (P385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472716	NM_014935.5(PLEKHA6):c.1133C>T (p.Pro378Leu)	PLEKHA6 (P378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393797	NM_014935.5(PLEKHA6):c.1088A>G (p.Gln363Arg)	PLEKHA6 (Q363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227832	NM_014935.5(PLEKHA6):c.1003C>T (p.Arg335Trp)	PLEKHA6 (R335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549465	NM_014935.5(PLEKHA6):c.979G>A (p.Gly327Arg)	PLEKHA6 (G327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214818	NM_014935.5(PLEKHA6):c.976C>T (p.Arg326Trp)	PLEKHA6 (R326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524348	NM_014935.5(PLEKHA6):c.917A>G (p.Asp306Gly)	PLEKHA6 (D306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214817	NM_014935.5(PLEKHA6):c.890G>A (p.Arg297Gln)	PLEKHA6 (R297Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350092	NM_014935.5(PLEKHA6):c.863A>C (p.Gln288Pro)	PLEKHA6 (Q288P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550989	NM_014935.5(PLEKHA6):c.835C>T (p.Arg279Trp)	PLEKHA6 (R279W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232244	NM_014935.5(PLEKHA6):c.827C>T (p.Ser276Phe)	PLEKHA6 (S276F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515906	NM_014935.5(PLEKHA6):c.806C>T (p.Pro269Leu)	PLEKHA6 (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377454	NM_014935.5(PLEKHA6):c.793C>G (p.Gln265Glu)	PLEKHA6 (Q265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214815	NM_014935.5(PLEKHA6):c.760C>T (p.Pro254Ser)	PLEKHA6 (P254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380225	NM_014935.5(PLEKHA6):c.746C>T (p.Pro249Leu)	PLEKHA6 (P249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214814	NM_014935.5(PLEKHA6):c.703A>G (p.Lys235Glu)	PLEKHA6 (K235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214813	NM_014935.5(PLEKHA6):c.580C>A (p.Pro194Thr)	PLEKHA6 (P194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382573	NM_014935.5(PLEKHA6):c.565C>G (p.His189Asp)	PLEKHA6 (H189D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614003	NM_014935.5(PLEKHA6):c.461G>A (p.Gly154Glu)	PLEKHA6 (G154E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325246	NM_014935.5(PLEKHA6):c.374C>T (p.Thr125Met)	PLEKHA6 (T125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523306	NM_014935.5(PLEKHA6):c.364C>T (p.Arg122Trp)	PLEKHA6 (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409031	NM_014935.5(PLEKHA6):c.265C>G (p.Leu89Val)	PLEKHA6 (L89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556643	NM_014935.5(PLEKHA6):c.260G>T (p.Arg87Leu)	PLEKHA6 (R87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461753	NM_014935.5(PLEKHA6):c.259C>T (p.Arg87Cys)	PLEKHA6 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214800	NM_014935.5(PLEKHA6):c.188C>T (p.Ala63Val)	PLEKHA6 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214799	NM_014935.5(PLEKHA6):c.175C>T (p.Pro59Ser)	PLEKHA6 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454851	NM_014935.5(PLEKHA6):c.175C>A (p.Pro59Thr)	PLEKHA6 (P59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319620	NM_014935.5(PLEKHA6):c.173C>T (p.Ala58Val)	PLEKHA6 (A58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214793	NM_014935.5(PLEKHA6):c.109C>T (p.Arg37Cys)	PLEKHA6 (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214792	NM_014935.5(PLEKHA6):c.104C>A (p.Ala35Glu)	PLEKHA6 (A35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233929	NM_014935.5(PLEKHA6):c.103G>A (p.Ala35Thr)	PLEKHA6 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368735	NM_014935.5(PLEKHA6):c.100C>T (p.Arg34Trp)	PLEKHA6 (R34W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic

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