ClinVar for Gene (Select 84069) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307714	NM_032129.3(PLEKHN1):c.217C>A (p.Leu73Met)	PLEKHN1 (L73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307713	NM_032129.3(PLEKHN1):c.644G>C (p.Gly215Ala)	PLEKHN1 (G227A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307712	NM_032129.3(PLEKHN1):c.1558C>T (p.Leu520Phe)	PLEKHN1 (L572F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307711	NM_032129.3(PLEKHN1):c.1258G>A (p.Gly420Ser)	PLEKHN1 (G432S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307710	NM_032129.3(PLEKHN1):c.1051T>G (p.Trp351Gly)	PLEKHN1 (W351G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307709	NM_032129.3(PLEKHN1):c.1375C>A (p.Pro459Thr)	PLEKHN1 (P424T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307708	NM_032129.3(PLEKHN1):c.413G>A (p.Gly138Glu)	PLEKHN1 (G138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307707	NM_032129.3(PLEKHN1):c.1633C>A (p.Pro545Thr)	PLEKHN1 (P545T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307706	NM_032129.3(PLEKHN1):c.898G>A (p.Ala300Thr)	PLEKHN1 (A312T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307705	NM_032129.3(PLEKHN1):c.422C>T (p.Pro141Leu)	PLEKHN1 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307704	NM_032129.3(PLEKHN1):c.1744C>T (p.His582Tyr)	PLEKHN1 (H634Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307703	NM_032129.3(PLEKHN1):c.1255C>T (p.Arg419Cys)	PLEKHN1 (R431C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215189	NM_032129.3(PLEKHN1):c.98G>A (p.Arg33Gln)	PLEKHN1 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215188	NM_032129.3(PLEKHN1):c.982G>A (p.Glu328Lys)	PLEKHN1 (E380K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215187	NM_032129.3(PLEKHN1):c.887G>A (p.Arg296His)	PLEKHN1 (R296H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215186	NM_032129.3(PLEKHN1):c.806G>A (p.Arg269His)	PLEKHN1 (R321H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215185	NM_032129.3(PLEKHN1):c.679A>T (p.Arg227Trp)	PLEKHN1 (R239W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215184	NM_032129.3(PLEKHN1):c.652C>T (p.Pro218Ser)	PLEKHN1 (P218S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215183	NM_032129.3(PLEKHN1):c.590G>A (p.Arg197His)	PLEKHN1 (R237H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215181	NM_032129.3(PLEKHN1):c.586C>T (p.Arg196Trp)	PLEKHN1 (R236W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215180	NM_032129.3(PLEKHN1):c.451G>C (p.Glu151Gln)	PLEKHN1 (E151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215178	NM_032129.3(PLEKHN1):c.44G>C (p.Arg15Pro)	LOC129929066, PLEKHN1 (R15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215177	NM_032129.3(PLEKHN1):c.428C>T (p.Thr143Met)	PLEKHN1 (T143M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215176	NM_032129.3(PLEKHN1):c.392C>G (p.Ser131Trp)	PLEKHN1 (S131W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215175	NM_032129.3(PLEKHN1):c.344G>A (p.Cys115Tyr)	PLEKHN1 (C115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215174	NM_032129.3(PLEKHN1):c.256C>T (p.Arg86Trp)	PLEKHN1 (R86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215172	NM_032129.3(PLEKHN1):c.235A>C (p.Ser79Arg)	PLEKHN1 (S79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215171	NM_032129.3(PLEKHN1):c.1830G>C (p.Trp610Cys)	PLEKHN1 (W575C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215169	NM_032129.3(PLEKHN1):c.1523G>A (p.Arg508His)	PLEKHN1 (R520H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215168	NM_032129.3(PLEKHN1):c.1475C>T (p.Ser492Leu)	PLEKHN1 (S544L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215167	NM_032129.3(PLEKHN1):c.1469C>T (p.Thr490Met)	PLEKHN1 (T455M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215166	NM_032129.3(PLEKHN1):c.1382C>T (p.Thr461Ile)	PLEKHN1 (T426I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215165	NM_032129.3(PLEKHN1):c.1331C>A (p.Pro444His)	PLEKHN1 (P456H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215164	NM_032129.3(PLEKHN1):c.1270C>T (p.Pro424Ser)	PLEKHN1 (P424S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215163	NM_032129.3(PLEKHN1):c.124G>A (p.Glu42Lys)	PLEKHN1 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215162	NM_032129.3(PLEKHN1):c.1198G>A (p.Glu400Lys)	PLEKHN1 (E400K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215161	NM_032129.3(PLEKHN1):c.1189C>T (p.Arg397Trp)	PLEKHN1 (R397W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215160	NM_032129.3(PLEKHN1):c.1142A>G (p.Gln381Arg)	PLEKHN1 (Q393R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215159	NM_032129.3(PLEKHN1):c.1130G>A (p.Gly377Asp)	PLEKHN1 (G429D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215158	NM_032129.3(PLEKHN1):c.109G>A (p.Gly37Ser)	PLEKHN1 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685786	GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	AGRN, B3GALT6 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685255	GRCh37/hg19 1p36.33(chr1:849467-1089576)x1	AGRN, C1orf159 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2637980	NM_032129.3(PLEKHN1):c.528C>T (p.Ala176=)	PLEKHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615324	NM_032129.3(PLEKHN1):c.1231G>A (p.Gly411Arg)	PLEKHN1 (G411R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2611889	NM_032129.3(PLEKHN1):c.589C>T (p.Arg197Cys)	PLEKHN1 (R197C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595747	NM_032129.3(PLEKHN1):c.599C>T (p.Ser200Leu)	PLEKHN1 (S200L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594813	NM_032129.3(PLEKHN1):c.43C>T (p.Arg15Trp)	LOC129929066, PLEKHN1 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2539559	NM_032129.3(PLEKHN1):c.97C>T (p.Arg33Trp)	PLEKHN1 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522842	NM_032129.3(PLEKHN1):c.1286T>G (p.Leu429Arg)	PLEKHN1 (L481R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520372	NM_032129.3(PLEKHN1):c.1090A>C (p.Ser364Arg)	PLEKHN1 (S416R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515431	NM_032129.3(PLEKHN1):c.1031C>T (p.Ser344Phe)	PLEKHN1 (S344F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2495107	NM_032129.3(PLEKHN1):c.1808C>T (p.Ala603Val)	PLEKHN1 (A655V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487970	NM_032129.3(PLEKHN1):c.1778A>G (p.Gln593Arg)	PLEKHN1 (Q593R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2473442	NM_032129.3(PLEKHN1):c.1372G>A (p.Asp458Asn)	PLEKHN1 (D470N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470732	NM_032129.3(PLEKHN1):c.829G>A (p.Glu277Lys)	PLEKHN1 (E329K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459706	NM_032129.3(PLEKHN1):c.1498G>T (p.Val500Leu)	PLEKHN1 (V512L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455266	NM_032129.3(PLEKHN1):c.1390G>A (p.Ala464Thr)	PLEKHN1 (A476T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425297	NC_000001.10:g.(?_861322)_(948976_?)dup	HES4, ISG15 +4 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2406291	NM_032129.3(PLEKHN1):c.1726C>T (p.Arg576Trp)	PLEKHN1 (R588W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400620	NM_032129.3(PLEKHN1):c.1084C>T (p.Arg362Cys)	PLEKHN1 (R362C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397724	NM_032129.3(PLEKHN1):c.848G>A (p.Arg283His)	PLEKHN1 (R283H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394843	NM_032129.3(PLEKHN1):c.1681G>A (p.Glu561Lys)	PLEKHN1 (E573K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394650	NM_032129.3(PLEKHN1):c.1333G>C (p.Asp445His)	PLEKHN1 (D457H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390667	NM_032129.3(PLEKHN1):c.1673G>T (p.Gly558Val)	PLEKHN1 (G610V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383949	NM_032129.3(PLEKHN1):c.104C>T (p.Ser35Leu)	PLEKHN1 (S35L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379442	NM_032129.3(PLEKHN1):c.938G>A (p.Arg313His)	PLEKHN1 (R313H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364663	NM_032129.3(PLEKHN1):c.907G>A (p.Glu303Lys)	PLEKHN1 (E303K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363586	NM_032129.3(PLEKHN1):c.331G>A (p.Asp111Asn)	PLEKHN1 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363438	NM_032129.3(PLEKHN1):c.584C>T (p.Pro195Leu)	PLEKHN1 (P195L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363140	NM_032129.3(PLEKHN1):c.529G>A (p.Glu177Lys)	PLEKHN1 (E177K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362109	NM_032129.3(PLEKHN1):c.160C>G (p.Leu54Val)	PLEKHN1 (L54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358514	NM_032129.3(PLEKHN1):c.1735G>A (p.Gly579Ser)	PLEKHN1 (G544S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355923	NM_032129.3(PLEKHN1):c.524G>A (p.Arg175Gln)	PLEKHN1 (R175Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352765	NM_032129.3(PLEKHN1):c.53T>C (p.Phe18Ser)	LOC129929066, PLEKHN1 (F18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345010	NM_032129.3(PLEKHN1):c.1358C>T (p.Ser453Leu)	PLEKHN1 (S418L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340688	NM_032129.3(PLEKHN1):c.23C>T (p.Pro8Leu)	LOC129929066, PLEKHN1 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339436	NM_032129.3(PLEKHN1):c.518C>G (p.Pro173Arg)	PLEKHN1 (P173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333594	NM_032129.3(PLEKHN1):c.683T>A (p.Val228Asp)	PLEKHN1 (V280D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332423	NM_032129.3(PLEKHN1):c.446C>T (p.Pro149Leu)	PLEKHN1 (P149L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329124	NM_032129.3(PLEKHN1):c.568G>A (p.Ala190Thr)	PLEKHN1 (A230T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323171	NM_032129.3(PLEKHN1):c.1187G>A (p.Arg396Gln)	PLEKHN1 (R408Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317536	NM_032129.3(PLEKHN1):c.176C>T (p.Pro59Leu)	PLEKHN1 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313501	NM_032129.3(PLEKHN1):c.613C>T (p.Arg205Cys)	PLEKHN1 (R205C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310557	NM_032129.3(PLEKHN1):c.763G>A (p.Glu255Lys)	PLEKHN1 (E255K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304233	NM_032129.3(PLEKHN1):c.352G>A (p.Glu118Lys)	PLEKHN1 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304232	NM_032129.3(PLEKHN1):c.1783T>C (p.Cys595Arg)	PLEKHN1 (C560R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299145	NM_032129.3(PLEKHN1):c.1132T>G (p.Cys378Gly)	PLEKHN1 (C430G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292905	NM_032129.3(PLEKHN1):c.1628C>T (p.Pro543Leu)	PLEKHN1 (P555L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290747	NM_032129.3(PLEKHN1):c.296A>G (p.Tyr99Cys)	PLEKHN1 (Y99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288645	NM_032129.3(PLEKHN1):c.889G>A (p.Val297Met)	PLEKHN1 (V309M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259956	NM_032129.3(PLEKHN1):c.581G>T (p.Gly194Val)	PLEKHN1 (G194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238455	NM_032129.3(PLEKHN1):c.1450C>G (p.Gln484Glu)	PLEKHN1 (Q449E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235474	NM_032129.3(PLEKHN1):c.596A>C (p.His199Pro)	PLEKHN1 (H239P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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