PHLPP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
Select item 2348460	NM_194449.4(PHLPP1):c.77C>A (p.Ala26Asp)	PHLPP1 (A26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648782	NM_194449.4(PHLPP1):c.84T>G (p.Ala28=)	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 2648784	NM_194449.4(PHLPP1):c.90A>T (p.Ala30=)	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 2648786	NM_194449.4(PHLPP1):c.96A>T (p.Ala32=)	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 3306245	NM_194449.4(PHLPP1):c.107C>A (p.Ala36Glu)	PHLPP1 (A36E)	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 3306246	NM_194449.4(PHLPP1):c.161C>T (p.Ala54Val)	PHLPP1 (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319458	NM_194449.4(PHLPP1):c.164T>G (p.Leu55Arg)	PHLPP1 (L55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290490	NM_194449.4(PHLPP1):c.223C>G (p.Pro75Ala)	PHLPP1 (P75A)	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 2243224	NM_194449.4(PHLPP1):c.286C>T (p.Arg96Cys)	PHLPP1 (R96C)	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 2558692	NM_194449.4(PHLPP1):c.335C>T (p.Ala112Val)	PHLPP1 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547907	NM_194449.4(PHLPP1):c.394GCGGCCGCC[1] (p.Ala135_Ala137del)	PHLPP1	Microsatellite (inframe_deletion)	not provided	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 2273898	NM_194449.4(PHLPP1):c.496T>A (p.Ser166Thr)	PHLPP1 (S166T)	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 2407171	NM_194449.4(PHLPP1):c.506C>T (p.Thr169Ile)	PHLPP1 (T169I)	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 2337073	NM_194449.4(PHLPP1):c.542A>G (p.His181Arg)	PHLPP1 (H181R)	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 715064	NM_194449.4(PHLPP1):c.591C>T (p.His197=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2385026	NM_194449.4(PHLPP1):c.730G>C (p.Val244Leu)	PHLPP1 (V244L)	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 2619492	NM_194449.4(PHLPP1):c.790C>T (p.Pro264Ser)	PHLPP1 (P264S)	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 3212356	NM_194449.4(PHLPP1):c.844C>T (p.Pro282Ser)	PHLPP1 (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778774	NM_194449.4(PHLPP1):c.871T>G (p.Phe291Val)	PHLPP1 (F291V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2351475	NM_194449.4(PHLPP1):c.877G>T (p.Gly293Trp)	PHLPP1 (G293W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230171	NM_194449.4(PHLPP1):c.902A>C (p.Asp301Ala)	PHLPP1 (D301A)	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 2377879	NM_194449.4(PHLPP1):c.946G>C (p.Ala316Pro)	PHLPP1 (A316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324679	NM_194449.4(PHLPP1):c.1000G>C (p.Val334Leu)	PHLPP1 (V334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313295	NM_194449.4(PHLPP1):c.1003T>C (p.Ser335Pro)	PHLPP1 (S335P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332269	NM_194449.4(PHLPP1):c.1012C>G (p.Arg338Gly)	PHLPP1 (R338G)	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 1341772	NM_194449.4(PHLPP1):c.1038C>G (p.Asp346Glu)	PHLPP1 (D346E)	Single nucleotide variant (missense variant)	not provided	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 3212324	NM_194449.4(PHLPP1):c.1063A>G (p.Ser355Gly)	PHLPP1 (S355G)	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 3212325	NM_194449.4(PHLPP1):c.1093C>T (p.Pro365Ser)	PHLPP1 (P365S)	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 2648788	NM_194449.4(PHLPP1):c.1116C>T (p.Ser372=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2393726	NM_194449.4(PHLPP1):c.1184G>T (p.Arg395Leu)	PHLPP1 (R395L)	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 3306242	NM_194449.4(PHLPP1):c.1186C>T (p.Arg396Cys)	PHLPP1 (R396C)	Single nucleotide variant (missense variant)	not specified	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 2294200	NM_194449.4(PHLPP1):c.1225A>G (p.Thr409Ala)	PHLPP1 (T409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354872	NM_194449.4(PHLPP1):c.1226C>T (p.Thr409Met)	PHLPP1 (T409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648789	NM_194449.4(PHLPP1):c.1227G>A (p.Thr409=)	PHLPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2529237	NM_194449.4(PHLPP1):c.1258C>T (p.Pro420Ser)	PHLPP1 (P420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238452	NM_194449.4(PHLPP1):c.1264G>A (p.Ala422Thr)	PHLPP1 (A422T)	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 2241048	NM_194449.4(PHLPP1):c.1288G>A (p.Val430Ile)	PHLPP1 (V430I)	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 2466409	NM_194449.4(PHLPP1):c.1309G>A (p.Glu437Lys)	PHLPP1 (E437K)	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 3306244	NM_194449.4(PHLPP1):c.1357G>C (p.Gly453Arg)	LOC130062646, PHLPP1 (G453R)	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 3212328	NM_194449.4(PHLPP1):c.1565G>C (p.Arg522Pro)	PHLPP1 (R522P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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