ClinVar for Gene (Select 80243) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309888	NM_024870.4(PREX2):c.499G>A (p.Val167Ile)	PREX2 (V167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309887	NM_024870.4(PREX2):c.244G>T (p.Ala82Ser)	PREX2 (A82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309886	NM_024870.4(PREX2):c.1239C>T (p.Ser413=)	PREX2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3257923	NM_024870.4(PREX2):c.788G>A (p.Arg263Gln)	PREX2 (R263Q)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3218596	NM_024870.4(PREX2):c.688C>T (p.His230Tyr)	PREX2 (H230Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218595	NM_024870.4(PREX2):c.4382A>G (p.Asn1461Ser)	PREX2 (N1461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218594	NM_024870.4(PREX2):c.4327C>G (p.Gln1443Glu)	PREX2 (Q1443E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218592	NM_024870.4(PREX2):c.4168C>G (p.Gln1390Glu)	PREX2 (Q1390E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218591	NM_024870.4(PREX2):c.3781C>T (p.Leu1261Phe)	PREX2 (L1261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218590	NM_024870.4(PREX2):c.3698C>A (p.Ala1233Asp)	PREX2 (A1233D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218589	NM_024870.4(PREX2):c.3643C>T (p.Arg1215Trp)	PREX2 (R1215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218588	NM_024870.4(PREX2):c.3553T>A (p.Phe1185Ile)	PREX2 (F1185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218587	NM_024870.4(PREX2):c.3550G>A (p.Ala1184Thr)	PREX2 (A1184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218586	NM_024870.4(PREX2):c.3185G>A (p.Arg1062His)	PREX2 (R1062H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218585	NM_024870.4(PREX2):c.3065C>T (p.Thr1022Ile)	PREX2 (T1022I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218584	NM_024870.4(PREX2):c.2869G>A (p.Ala957Thr)	PREX2 (A957T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218583	NM_024870.4(PREX2):c.2464G>A (p.Val822Met)	PREX2 (V822M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218582	NM_024870.4(PREX2):c.2379C>G (p.Asp793Glu)	PREX2 (D793E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218581	NM_024870.4(PREX2):c.2255A>T (p.Asp752Val)	PREX2 (D752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218580	NM_024870.4(PREX2):c.2246C>T (p.Thr749Met)	PREX2 (T749M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218578	NM_024870.4(PREX2):c.2245A>G (p.Thr749Ala)	PREX2 (T749A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218577	NM_024870.4(PREX2):c.1834A>G (p.Lys612Glu)	PREX2 (K612E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218576	NM_024870.4(PREX2):c.17G>T (p.Arg6Leu)	PREX2 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218575	NM_024870.4(PREX2):c.16C>G (p.Arg6Gly)	PREX2 (R6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063035	GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)x1	ARFGEF1, COPS5 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061030	NM_024870.4(PREX2):c.1819T>C (p.Leu607=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3060975	NM_024870.4(PREX2):c.2868T>C (p.Ser956=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3060741	NM_024870.4(PREX2):c.1818A>G (p.Gly606=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3060225	NM_024870.4(PREX2):c.2250+8G>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3060181	NM_024870.4(PREX2):c.99G>A (p.Lys33=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3059825	NM_024870.4(PREX2):c.2027+10A>G	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3059638	NM_024870.4(PREX2):c.4775+10T>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3059183	NM_024870.4(PREX2):c.1879-7C>T	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3059032	NM_024870.4(PREX2):c.4797A>G (p.Pro1599=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3058803	NM_024870.4(PREX2):c.2958G>T (p.Val986=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3057031	NM_024870.4(PREX2):c.2116A>T (p.Thr706Ser)	PREX2 (T706S)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3056944	NM_024870.4(PREX2):c.2716-2760G>T	PREX2 (R976M)	Single nucleotide variant (missense variant +1 more)	PREX2-related disorder	GBenign
Select item 3055799	NM_024870.4(PREX2):c.3652A>G (p.Ile1218Val)	PREX2 (I1218V)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3053706	NM_024870.4(PREX2):c.167G>A (p.Cys56Tyr)	PREX2 (C56Y)	Single nucleotide variant (missense variant)	PREX2-related disorder	GLikely benign
Select item 3049918	NM_024870.4(PREX2):c.96G>A (p.Gln32=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3049580	NM_024870.4(PREX2):c.3689G>A (p.Arg1230Gln)	PREX2 (R1230Q)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3049219	NM_024870.4(PREX2):c.408C>T (p.Leu136=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3045183	NM_024870.4(PREX2):c.4566C>T (p.Gly1522=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3044534	NM_024870.4(PREX2):c.954T>C (p.His318=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3043990	NM_024870.4(PREX2):c.4521G>A (p.Gly1507=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3043235	NM_024870.4(PREX2):c.3892A>T (p.Met1298Leu)	PREX2 (M1298L)	Single nucleotide variant (missense variant)	PREX2-related disorder	GLikely benign
Select item 3043142	NM_024870.4(PREX2):c.270C>T (p.Val90=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3042867	NM_024870.4(PREX2):c.4796C>T (p.Pro1599Leu)	PREX2 (P1599L)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3042294	NM_024870.4(PREX2):c.1340-10A>G	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GLikely benign
Select item 3038270	NM_024870.4(PREX2):c.934G>A (p.Asp312Asn)	PREX2 (D312N)	Single nucleotide variant (missense variant)	PREX2-related disorder	GLikely benign
Select item 3038089	NM_024870.4(PREX2):c.4463C>T (p.Ser1488Leu)	PREX2 (S1488L)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3034784	NM_024870.4(PREX2):c.3936G>A (p.Ala1312=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3033850	NM_024870.4(PREX2):c.1443+6G>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3033461	NM_024870.4(PREX2):c.1716A>G (p.Ser572=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 2658644	NM_024870.4(PREX2):c.3321T>C (p.Ser1107=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658643	NM_024870.4(PREX2):c.2658T>C (p.Ser886=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658642	NM_024870.4(PREX2):c.2625A>G (p.Glu875=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658641	NM_024870.4(PREX2):c.-4G>C	PREX2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2628843	NM_024870.4(PREX2):c.1504del (p.Tyr502fs)	PREX2 (Y502fs)	Deletion (frameshift variant)	PREX2-related disorder	GUncertain significance
Select item 2615528	NM_024870.4(PREX2):c.4817A>T (p.Glu1606Val)	PREX2 (E1606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615472	NM_024870.4(PREX2):c.2516T>C (p.Met839Thr)	PREX2 (M839T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613377	NM_024870.4(PREX2):c.4648A>G (p.Arg1550Gly)	PREX2 (R1550G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613234	NM_024870.4(PREX2):c.2858C>T (p.Ser953Phe)	PREX2 (S953F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612715	NM_024870.4(PREX2):c.3388A>G (p.Ser1130Gly)	PREX2 (S1130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605342	NM_024870.4(PREX2):c.271G>A (p.Val91Met)	PREX2 (V91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600803	NM_024870.4(PREX2):c.2921A>G (p.Asn974Ser)	PREX2 (N974S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556554	NM_024870.4(PREX2):c.122C>T (p.Thr41Met)	PREX2 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553180	NM_024870.4(PREX2):c.2486C>T (p.Ala829Val)	PREX2 (A829V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551007	NM_024870.4(PREX2):c.2322G>C (p.Lys774Asn)	PREX2 (K774N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550136	NM_024870.4(PREX2):c.3148C>T (p.Leu1050Phe)	PREX2 (L1050F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534976	NM_024870.4(PREX2):c.1777T>A (p.Ser593Thr)	PREX2 (S593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532006	NM_024870.4(PREX2):c.2693A>G (p.Gln898Arg)	PREX2 (Q898R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522867	NM_024870.4(PREX2):c.3769A>G (p.Ser1257Gly)	PREX2 (S1257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509852	NM_024870.4(PREX2):c.2971A>G (p.Thr991Ala)	PREX2 (T991A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487227	NM_024870.4(PREX2):c.2716T>C (p.Phe906Leu)	PREX2 (F906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459379	NM_024870.4(PREX2):c.3441T>A (p.Ser1147Arg)	PREX2 (S1147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406975	NM_024870.4(PREX2):c.1808A>G (p.Tyr603Cys)	PREX2 (Y603C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400146	NM_024870.4(PREX2):c.188A>G (p.Lys63Arg)	PREX2 (K63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391616	NM_024870.4(PREX2):c.908A>G (p.Glu303Gly)	PREX2 (E303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382100	NM_024870.4(PREX2):c.3569A>G (p.Tyr1190Cys)	PREX2 (Y1190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375696	NM_024870.4(PREX2):c.3688C>T (p.Arg1230Trp)	PREX2 (R1230W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344397	NM_024870.4(PREX2):c.4145A>G (p.Tyr1382Cys)	PREX2 (Y1382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316925	NM_024870.4(PREX2):c.2472G>C (p.Glu824Asp)	PREX2 (E824D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312178	NM_024870.4(PREX2):c.4120C>T (p.Arg1374Trp)	PREX2 (R1374W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308704	NM_024870.4(PREX2):c.2909A>T (p.His970Leu)	PREX2 (H970L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303081	NM_024870.4(PREX2):c.1579C>T (p.Arg527Cys)	PREX2 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301739	NM_024870.4(PREX2):c.2476G>A (p.Asp826Asn)	PREX2 (D826N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298855	NM_024870.4(PREX2):c.3160A>G (p.Ile1054Val)	PREX2 (I1054V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289871	NM_024870.4(PREX2):c.3092G>A (p.Gly1031Asp)	PREX2 (G1031D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289725	NM_024870.4(PREX2):c.3221A>G (p.Asp1074Gly)	PREX2 (D1074G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284011	NM_024870.4(PREX2):c.2975T>A (p.Ile992Asn)	PREX2 (I992N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274053	NM_024870.4(PREX2):c.2882A>G (p.Gln961Arg)	PREX2 (Q961R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271372	NM_024870.4(PREX2):c.1196G>A (p.Arg399Gln)	PREX2 (R399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264739	NM_024870.4(PREX2):c.1429G>A (p.Asp477Asn)	PREX2 (D477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246203	NM_024870.4(PREX2):c.1102T>G (p.Leu368Val)	PREX2 (L368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232003	NM_024870.4(PREX2):c.509T>C (p.Ile170Thr)	PREX2 (I170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227471	NM_024870.4(PREX2):c.4030G>T (p.Asp1344Tyr)	PREX2 (D1344Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220012	NM_024870.4(PREX2):c.4544C>T (p.Ser1515Leu)	PREX2 (S1515L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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