29149[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 2362952	NM_015020.3(PHLPP2):c.3962C>T (p.Thr1321Ile)	PHLPP2 (T1321I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614252	NM_015020.3(PHLPP2):c.3869A>T (p.Glu1290Val)	PHLPP2 (E1290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285968	NM_015020.3(PHLPP2):c.3854A>G (p.His1285Arg)	PHLPP2 (H1218R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610207	NM_015020.3(PHLPP2):c.3853C>A (p.His1285Asn)	PHLPP2 (H1285N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212376	NM_015020.3(PHLPP2):c.3848T>C (p.Val1283Ala)	PHLPP2 (V1283A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306258	NM_015020.3(PHLPP2):c.3680A>G (p.Gln1227Arg)	PHLPP2 (Q1227R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473673	NM_015020.3(PHLPP2):c.3547C>T (p.Pro1183Ser)	PHLPP2 (P1183S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513429	NM_015020.3(PHLPP2):c.3521G>T (p.Cys1174Phe)	PHLPP2 (C1174F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521362	NM_015020.3(PHLPP2):c.3472G>A (p.Val1158Ile)	PHLPP2 (V1158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212375	NM_015020.3(PHLPP2):c.3448G>C (p.Asp1150His)	PHLPP2 (D1083H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231547	NM_015020.3(PHLPP2):c.3436G>A (p.Gly1146Ser)	PHLPP2 (G1146S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464345	NM_015020.3(PHLPP2):c.3426G>T (p.Gln1142His)	PHLPP2 (Q1142H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708147	NM_015020.3(PHLPP2):c.3416C>G (p.Ser1139Cys)	PHLPP2 (S1139C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2379455	NM_015020.3(PHLPP2):c.3374C>A (p.Thr1125Asn)	PHLPP2 (T1058N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402512	NM_015020.3(PHLPP2):c.3367A>C (p.Thr1123Pro)	PHLPP2 (T1123P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371090	NM_015020.3(PHLPP2):c.3347G>A (p.Arg1116Gln)	PHLPP2 (R1049Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260536	NM_015020.3(PHLPP2):c.3335C>T (p.Pro1112Leu)	PHLPP2 (P1045L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620727	NM_015020.3(PHLPP2):c.3265G>T (p.Val1089Leu)	PHLPP2 (V1089L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523004	NM_015020.3(PHLPP2):c.3218G>A (p.Ser1073Asn)	PHLPP2 (S1073N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212374	NM_015020.3(PHLPP2):c.3172A>G (p.Thr1058Ala)	PHLPP2 (T1058A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212373	NM_015020.3(PHLPP2):c.3160G>A (p.Gly1054Arg)	PHLPP2 (G987R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318402	NM_015020.3(PHLPP2):c.3059A>G (p.Tyr1020Cys)	PHLPP2 (Y953C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787642	NM_015020.3(PHLPP2):c.3006C>T (p.His1002=)	PHLPP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511443	NM_015020.3(PHLPP2):c.2935T>A (p.Leu979Met)	PHLPP2 (L912M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341527	NM_015020.3(PHLPP2):c.2915C>T (p.Pro972Leu)	PHLPP2 (P972L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212372	NM_015020.3(PHLPP2):c.2720G>A (p.Arg907Gln)	PHLPP2 (R840Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212371	NM_015020.3(PHLPP2):c.2699C>T (p.Thr900Met)	PHLPP2 (T900M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236907	NM_015020.3(PHLPP2):c.2654C>A (p.Ala885Asp)	PHLPP2 (A885D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246346	NM_015020.3(PHLPP2):c.2644C>G (p.Pro882Ala)	PHLPP2 (P882A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355891	NM_015020.3(PHLPP2):c.2606A>G (p.Gln869Arg)	PHLPP2 (Q802R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212369	NM_015020.3(PHLPP2):c.2581C>G (p.His861Asp)	PHLPP2 (H861D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468805	NM_015020.3(PHLPP2):c.2501C>T (p.Thr834Met)	PHLPP2 (T767M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351898	NM_015020.3(PHLPP2):c.2486G>A (p.Arg829His)	PHLPP2 (R762H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212368	NM_015020.3(PHLPP2):c.2468G>A (p.Arg823Gln)	PHLPP2 (R756Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212367	NM_015020.3(PHLPP2):c.2459A>T (p.Asp820Val)	PHLPP2 (D820V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531863	NM_015020.3(PHLPP2):c.2424T>G (p.Phe808Leu)	PHLPP2 (F808L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259828	NM_015020.3(PHLPP2):c.2321C>G (p.Thr774Ser)	PHLPP2 (T707S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306255	NM_015020.3(PHLPP2):c.2072A>G (p.Lys691Arg)	PHLPP2 (K691R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307575	NM_015020.3(PHLPP2):c.2037G>T (p.Lys679Asn)	PHLPP2 (K612N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212364	NM_015020.3(PHLPP2):c.1898C>T (p.Thr633Met)	PHLPP2 (T633M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300560	NM_015020.3(PHLPP2):c.1834G>A (p.Ala612Thr)	PHLPP2 (A612T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212363	NM_015020.3(PHLPP2):c.1826T>C (p.Leu609Ser)	PHLPP2 (L609S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411449	NM_015020.3(PHLPP2):c.1823C>T (p.Ser608Phe)	PHLPP2 (S608F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383040	NM_015020.3(PHLPP2):c.1748C>T (p.Thr583Met)	PHLPP2 (T583M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306256	NM_015020.3(PHLPP2):c.1594G>A (p.Val532Met)	PHLPP2 (V532M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212360	NM_015020.3(PHLPP2):c.1555G>A (p.Asp519Asn)	PHLPP2 (D519N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646800	NM_015020.3(PHLPP2):c.1542A>G (p.Leu514=)	PHLPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523020	NM_015020.3(PHLPP2):c.1523A>G (p.Asp508Gly)	PHLPP2 (D508G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486339	NM_015020.3(PHLPP2):c.1517T>C (p.Phe506Ser)	PHLPP2 (F506S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485789	NM_015020.3(PHLPP2):c.1448G>A (p.Arg483Gln)	PHLPP2 (R483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212359	NM_015020.3(PHLPP2):c.1447C>T (p.Arg483Trp)	PHLPP2 (R483W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646801	NM_015020.3(PHLPP2):c.1413G>C (p.Gln471His)	PHLPP2 (Q471H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2349676	NM_015020.3(PHLPP2):c.1358A>G (p.Asp453Gly)	PHLPP2 (D453G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2610940	NM_015020.3(PHLPP2):c.1211A>G (p.Glu404Gly)	PHLPP2 (E404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306257	NM_015020.3(PHLPP2):c.1175T>A (p.Met392Lys)	PHLPP2 (M392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236594	NM_015020.3(PHLPP2):c.1147A>G (p.Ile383Val)	PHLPP2 (I383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271597	NM_015020.3(PHLPP2):c.1111T>C (p.Ser371Pro)	PHLPP2 (S371P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212358	NM_015020.3(PHLPP2):c.1099C>G (p.Leu367Val)	PHLPP2 (L367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609942	NM_015020.3(PHLPP2):c.1063A>G (p.Asn355Asp)	PHLPP2 (N355D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210324	NM_015020.3(PHLPP2):c.1006G>C (p.Asp336His)	PHLPP2 (D336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469029	NM_015020.3(PHLPP2):c.983A>G (p.Asn328Ser)	PHLPP2 (N328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646802	NM_015020.3(PHLPP2):c.981C>T (p.Leu327=)	PHLPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507860	NM_015020.3(PHLPP2):c.946A>G (p.Ile316Val)	PHLPP2 (I316V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239113	NM_015020.3(PHLPP2):c.922C>T (p.His308Tyr)	PHLPP2 (H308Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232229	NM_015020.3(PHLPP2):c.827A>G (p.Tyr276Cys)	PHLPP2 (Y276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470786	NM_015020.3(PHLPP2):c.780C>G (p.Ser260Arg)	PHLPP2 (S260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348223	NM_015020.3(PHLPP2):c.776A>G (p.Tyr259Cys)	PHLPP2 (Y259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212378	NM_015020.3(PHLPP2):c.773G>T (p.Cys258Phe)	PHLPP2 (C258F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358641	NM_015020.3(PHLPP2):c.722G>A (p.Arg241Gln)	PHLPP2 (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306254	NM_015020.3(PHLPP2):c.693G>C (p.Glu231Asp)	PHLPP2 (E231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290491	NM_015020.3(PHLPP2):c.667G>C (p.Ala223Pro)	PHLPP2 (A223P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210325	NM_015020.3(PHLPP2):c.650G>C (p.Ser217Thr)	PHLPP2 (S217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352089	NM_015020.3(PHLPP2):c.610A>G (p.Ile204Val)	PHLPP2 (I204V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2322637	NM_015020.3(PHLPP2):c.593C>T (p.Pro198Leu)	PHLPP2 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521740	NM_015020.3(PHLPP2):c.546C>G (p.Ile182Met)	PHLPP2 (I182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306252	NM_015020.3(PHLPP2):c.400A>G (p.Met134Val)	PHLPP2 (M134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212377	NM_015020.3(PHLPP2):c.395G>C (p.Gly132Ala)	PHLPP2 (G132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536719	NM_015020.3(PHLPP2):c.361C>T (p.Arg121Cys)	PHLPP2 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212370	NM_015020.3(PHLPP2):c.265C>G (p.Leu89Val)	PHLPP2 (L89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306259	NM_015020.3(PHLPP2):c.245G>T (p.Arg82Ile)	PHLPP2 (R82I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602759	NM_015020.3(PHLPP2):c.218C>T (p.Ala73Val)	PHLPP2 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212366	NM_015020.3(PHLPP2):c.217G>T (p.Ala73Ser)	PHLPP2 (A73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212365	NM_015020.3(PHLPP2):c.189T>A (p.His63Gln)	PHLPP2 (H63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333488	NM_015020.3(PHLPP2):c.184T>A (p.Leu62Ile)	PHLPP2 (L62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212362	NM_015020.3(PHLPP2):c.179C>T (p.Ser60Phe)	PHLPP2 (S60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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