ClinVar for Gene (Select 23239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306251	NM_194449.4(PHLPP1):c.2143A>G (p.Thr715Ala)	PHLPP1 (T715A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306249	NM_194449.4(PHLPP1):c.2970C>A (p.Phe990Leu)	PHLPP1 (F990L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306248	NM_194449.4(PHLPP1):c.3325T>A (p.Cys1109Ser)	PHLPP1 (C1109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306247	NM_194449.4(PHLPP1):c.1090G>A (p.Asp364Asn)	PHLPP1 (D364N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306246	NM_194449.4(PHLPP1):c.161C>T (p.Ala54Val)	PHLPP1 (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306245	NM_194449.4(PHLPP1):c.107C>A (p.Ala36Glu)	PHLPP1 (A36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306244	NM_194449.4(PHLPP1):c.1357G>C (p.Gly453Arg)	LOC130062646, PHLPP1 (G453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306243	NM_194449.4(PHLPP1):c.2759A>G (p.Glu920Gly)	PHLPP1 (E920G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306242	NM_194449.4(PHLPP1):c.1186C>T (p.Arg396Cys)	PHLPP1 (R396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306241	NM_194449.4(PHLPP1):c.3298G>A (p.Glu1100Lys)	PHLPP1 (E1100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306239	NM_194449.4(PHLPP1):c.3682A>G (p.Ile1228Val)	PHLPP1 (I1228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212357	NM_194449.4(PHLPP1):c.917T>C (p.Val306Ala)	PHLPP1 (V306A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3212356	NM_194449.4(PHLPP1):c.844C>T (p.Pro282Ser)	PHLPP1 (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212355	NM_194449.4(PHLPP1):c.616G>T (p.Val206Phe)	PHLPP1 (V206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212353	NM_194449.4(PHLPP1):c.5140G>C (p.Asp1714His)	PHLPP1 (D1714H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212352	NM_194449.4(PHLPP1):c.5105G>A (p.Arg1702Gln)	PHLPP1 (R1702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212351	NM_194449.4(PHLPP1):c.506C>G (p.Thr169Ser)	PHLPP1 (T169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212350	NM_194449.4(PHLPP1):c.5003C>T (p.Pro1668Leu)	PHLPP1 (P1668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212349	NM_194449.4(PHLPP1):c.4973C>T (p.Pro1658Leu)	PHLPP1 (P1658L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212348	NM_194449.4(PHLPP1):c.4789A>C (p.Ile1597Leu)	PHLPP1 (I1597L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212347	NM_194449.4(PHLPP1):c.4574A>C (p.Asn1525Thr)	PHLPP1 (N1525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212346	NM_194449.4(PHLPP1):c.4496C>T (p.Pro1499Leu)	PHLPP1 (P1499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212344	NM_194449.4(PHLPP1):c.4118G>A (p.Ser1373Asn)	PHLPP1 (S1373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212343	NM_194449.4(PHLPP1):c.3973A>G (p.Ile1325Val)	PHLPP1 (I1325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212342	NM_194449.4(PHLPP1):c.3605G>A (p.Arg1202His)	PHLPP1 (R1202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212341	NM_194449.4(PHLPP1):c.331G>A (p.Gly111Arg)	PHLPP1 (G111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212340	NM_194449.4(PHLPP1):c.3140G>A (p.Arg1047Gln)	PHLPP1 (R1047Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212339	NM_194449.4(PHLPP1):c.3022G>A (p.Glu1008Lys)	PHLPP1 (E1008K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212338	NM_194449.4(PHLPP1):c.2881A>G (p.Arg961Gly)	PHLPP1 (R961G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212337	NM_194449.4(PHLPP1):c.2840C>T (p.Ala947Val)	PHLPP1 (A947V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212336	NM_194449.4(PHLPP1):c.2582G>A (p.Arg861Lys)	PHLPP1 (R861K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212335	NM_194449.4(PHLPP1):c.2380T>A (p.Cys794Ser)	PHLPP1 (C794S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212334	NM_194449.4(PHLPP1):c.2321A>C (p.Asp774Ala)	PHLPP1 (D774A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212333	NM_194449.4(PHLPP1):c.227G>C (p.Gly76Ala)	PHLPP1 (G76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212332	NM_194449.4(PHLPP1):c.2207T>G (p.Met736Arg)	PHLPP1 (M736R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212331	NM_194449.4(PHLPP1):c.1913G>A (p.Arg638His)	PHLPP1 (R638H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212330	NM_194449.4(PHLPP1):c.1870T>C (p.Tyr624His)	PHLPP1 (Y624H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212329	NM_194449.4(PHLPP1):c.1703G>A (p.Cys568Tyr)	PHLPP1 (C568Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212328	NM_194449.4(PHLPP1):c.1565G>C (p.Arg522Pro)	PHLPP1 (R522P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212327	NM_194449.4(PHLPP1):c.1291C>T (p.Arg431Cys)	PHLPP1 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212326	NM_194449.4(PHLPP1):c.1103G>C (p.Ser368Thr)	PHLPP1 (S368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212325	NM_194449.4(PHLPP1):c.1093C>T (p.Pro365Ser)	PHLPP1 (P365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212324	NM_194449.4(PHLPP1):c.1063A>G (p.Ser355Gly)	PHLPP1 (S355G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212323	NM_194449.4(PHLPP1):c.1040C>G (p.Thr347Ser)	PHLPP1 (T347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 2648792	NM_194449.4(PHLPP1):c.2031C>T (p.Ser677=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648791	NM_194449.4(PHLPP1):c.1923A>C (p.Ser641=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648790	NM_194449.4(PHLPP1):c.1785G>A (p.Val595=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648789	NM_194449.4(PHLPP1):c.1227G>A (p.Thr409=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648788	NM_194449.4(PHLPP1):c.1116C>T (p.Ser372=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648787	NM_194449.4(PHLPP1):c.99A>C (p.Ala33=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648786	NM_194449.4(PHLPP1):c.96A>T (p.Ala32=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648785	NM_194449.4(PHLPP1):c.93A>T (p.Ala31=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648784	NM_194449.4(PHLPP1):c.90A>T (p.Ala30=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648783	NM_194449.4(PHLPP1):c.87G>T (p.Ala29=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648782	NM_194449.4(PHLPP1):c.84T>G (p.Ala28=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619492	NM_194449.4(PHLPP1):c.790C>T (p.Pro264Ser)	PHLPP1 (P264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610501	NM_194449.4(PHLPP1):c.1988C>T (p.Thr663Ile)	PHLPP1 (T663I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609530	NM_194449.4(PHLPP1):c.2984C>T (p.Ala995Val)	PHLPP1 (A995V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605481	NM_194449.4(PHLPP1):c.479C>G (p.Ser160Cys)	PHLPP1 (S160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605480	NM_194449.4(PHLPP1):c.127G>A (p.Ala43Thr)	PHLPP1 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591590	NM_194449.4(PHLPP1):c.1024C>T (p.Pro342Ser)	PHLPP1 (P342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589028	NM_194449.4(PHLPP1):c.2484C>G (p.Asp828Glu)	PHLPP1 (D828E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570694	NM_194449.4(PHLPP1):c.2302del (p.Ser768fs)	PHLPP1 (S768fs)	Deletion (frameshift variant)	Focal impaired awareness seizure +2 more	GUncertain significance
Select item 2561097	NM_194449.4(PHLPP1):c.1214C>T (p.Pro405Leu)	PHLPP1 (P405L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558692	NM_194449.4(PHLPP1):c.335C>T (p.Ala112Val)	PHLPP1 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550295	NM_194449.4(PHLPP1):c.3098C>T (p.Thr1033Met)	PHLPP1 (T1033M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537903	NM_194449.4(PHLPP1):c.4853T>C (p.Ile1618Thr)	PHLPP1 (I1618T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536979	NM_194449.4(PHLPP1):c.1951C>T (p.His651Tyr)	PHLPP1 (H651Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535867	NM_194449.4(PHLPP1):c.2168G>A (p.Cys723Tyr)	PHLPP1 (C723Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534433	NM_194449.4(PHLPP1):c.551C>T (p.Thr184Met)	PHLPP1 (T184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531227	NM_194449.4(PHLPP1):c.2278A>C (p.Lys760Gln)	PHLPP1 (K760Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529237	NM_194449.4(PHLPP1):c.1258C>T (p.Pro420Ser)	PHLPP1 (P420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491226	NM_194449.4(PHLPP1):c.1256C>G (p.Ala419Gly)	PHLPP1 (A419G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483997	NM_194449.4(PHLPP1):c.2080A>G (p.Lys694Glu)	PHLPP1 (K694E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473206	NM_194449.4(PHLPP1):c.520A>T (p.Arg174Trp)	PHLPP1 (R174W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466409	NM_194449.4(PHLPP1):c.1309G>A (p.Glu437Lys)	PHLPP1 (E437K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460838	NM_194449.4(PHLPP1):c.1540G>A (p.Asp514Asn)	PHLPP1 (D514N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457951	NM_194449.4(PHLPP1):c.1140G>C (p.Glu380Asp)	PHLPP1 (E380D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456639	NM_194449.4(PHLPP1):c.3212A>C (p.Lys1071Thr)	PHLPP1 (K1071T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454752	NM_194449.4(PHLPP1):c.1349C>G (p.Ser450Cys)	LOC130062646, PHLPP1 (S450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407703	NM_194449.4(PHLPP1):c.1283G>A (p.Gly428Glu)	PHLPP1 (G428E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407171	NM_194449.4(PHLPP1):c.506C>T (p.Thr169Ile)	PHLPP1 (T169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405974	NM_194449.4(PHLPP1):c.4585C>T (p.Arg1529Cys)	PHLPP1 (R1529C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404759	NM_194449.4(PHLPP1):c.809G>A (p.Arg270Gln)	PHLPP1 (R270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394108	NM_194449.4(PHLPP1):c.2680A>C (p.Asn894His)	PHLPP1 (N894H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393726	NM_194449.4(PHLPP1):c.1184G>T (p.Arg395Leu)	PHLPP1 (R395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387153	NM_194449.4(PHLPP1):c.2167T>C (p.Cys723Arg)	PHLPP1 (C723R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386073	NM_194449.4(PHLPP1):c.1606C>T (p.Arg536Trp)	PHLPP1 (R536W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385026	NM_194449.4(PHLPP1):c.730G>C (p.Val244Leu)	PHLPP1 (V244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384917	NM_194449.4(PHLPP1):c.3286G>A (p.Glu1096Lys)	PHLPP1 (E1096K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380752	NM_194449.4(PHLPP1):c.4274C>T (p.Thr1425Ile)	PHLPP1 (T1425I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380198	NM_194449.4(PHLPP1):c.1184G>A (p.Arg395His)	PHLPP1 (R395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377879	NM_194449.4(PHLPP1):c.946G>C (p.Ala316Pro)	PHLPP1 (A316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375480	NM_194449.4(PHLPP1):c.4858C>T (p.Arg1620Cys)	PHLPP1 (R1620C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357958	NM_194449.4(PHLPP1):c.749A>G (p.Gln250Arg)	PHLPP1 (Q250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355684	NM_194449.4(PHLPP1):c.4144G>A (p.Val1382Ile)	PHLPP1 (V1382I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354872	NM_194449.4(PHLPP1):c.1226C>T (p.Thr409Met)	PHLPP1 (T409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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