PREX2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 154495	GRCh38/hg38 8q13.2(chr8:67609185-68060879)x1	CPA6, LOC124174269 +3 more	Copy number loss	See cases	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 3218575	NM_024870.4(PREX2):c.16C>G (p.Arg6Gly)	PREX2 (R6G)	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 3049918	NM_024870.4(PREX2):c.96G>A (p.Gln32=)	PREX2	Single nucleotide variant (synonymous 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 2556554	NM_024870.4(PREX2):c.122C>T (p.Thr41Met)	PREX2 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252989	NM_024870.4(PREX2):c.142-2489C>T	PREX2	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation
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 2400146	NM_024870.4(PREX2):c.188A>G (p.Lys63Arg)	PREX2 (K63R)	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 3043142	NM_024870.4(PREX2):c.270C>T (p.Val90=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
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 973077	NM_024870.4(PREX2):c.357T>A (p.Tyr119Ter)	PREX2 (Y119*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
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 235898	NM_024870.4(PREX2):c.428G>A (p.Arg143Gln)	PREX2 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2232003	NM_024870.4(PREX2):c.509T>C (p.Ile170Thr)	PREX2 (I170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784128	NM_024870.4(PREX2):c.636C>T (p.Asn212=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 725836	NM_024870.4(PREX2):c.705+8C>T	PREX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3257923	NM_024870.4(PREX2):c.788G>A (p.Arg263Gln)	PREX2 (R263Q)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 2212001	NM_024870.4(PREX2):c.890G>A (p.Arg297His)	PREX2 (R297H)	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 3038270	NM_024870.4(PREX2):c.934G>A (p.Asp312Asn)	PREX2 (D312N)	Single nucleotide variant (missense 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 791167	NM_024870.4(PREX2):c.1094-7T>C	PREX2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1274701	NM_024870.4(PREX2):c.1195C>A (p.Arg399=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1253695	NM_024870.4(PREX2):c.1200G>A (p.Lys400=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283008	NM_024870.4(PREX2):c.1239-7C>G	PREX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3309886	NM_024870.4(PREX2):c.1239C>T (p.Ser413=)	PREX2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3042294	NM_024870.4(PREX2):c.1340-10A>G	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GLikely benign
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 780757	NM_024870.4(PREX2):c.1431C>T (p.Asp477=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3033850	NM_024870.4(PREX2):c.1443+6G>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 161771	NM_024870.4(PREX2):c.1444-4G>A	PREX2	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 2628843	NM_024870.4(PREX2):c.1504del (p.Tyr502fs)	PREX2 (Y502fs)	Deletion (frameshift variant)	PREX2-related disorder	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 235899	NM_024870.4(PREX2):c.1579C>A (p.Arg527Ser)	PREX2 (R527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776354	NM_024870.4(PREX2):c.1609G>A (p.Val537Ile)	PREX2 (V537I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2534976	NM_024870.4(PREX2):c.1777T>A (p.Ser593Thr)	PREX2 (S593T)	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 3060741	NM_024870.4(PREX2):c.1818A>G (p.Gly606=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3061030	NM_024870.4(PREX2):c.1819T>C (p.Leu607=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
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 3059183	NM_024870.4(PREX2):c.1879-7C>T	PREX2	Single nucleotide variant (intron 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 3057031	NM_024870.4(PREX2):c.2116A>T (p.Thr706Ser)	PREX2 (T706S)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
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 3218580	NM_024870.4(PREX2):c.2246C>T (p.Thr749Met)	PREX2 (T749M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060225	NM_024870.4(PREX2):c.2250+8G>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
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 2551007	NM_024870.4(PREX2):c.2322G>C (p.Lys774Asn)	PREX2 (K774N)	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 1288091	NM_024870.4(PREX2):c.2385C>T (p.Phe795=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2316925	NM_024870.4(PREX2):c.2472G>C (p.Glu824Asp)	PREX2 (E824D)	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 2553180	NM_024870.4(PREX2):c.2486C>T (p.Ala829Val)	PREX2 (A829V)	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 2658642	NM_024870.4(PREX2):c.2625A>G (p.Glu875=)	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 2532006	NM_024870.4(PREX2):c.2693A>G (p.Gln898Arg)	PREX2 (Q898R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2487227	NM_024870.4(PREX2):c.2716T>C (p.Phe906Leu)	PREX2 (F906L)	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 3060975	NM_024870.4(PREX2):c.2868T>C (p.Ser956=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
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 2274053	NM_024870.4(PREX2):c.2882A>G (p.Gln961Arg)	PREX2 (Q961R)	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 2600803	NM_024870.4(PREX2):c.2921A>G (p.Asn974Ser)	PREX2 (N974S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1063308	NM_024870.4(PREX2):c.2922C>G (p.Asn974Lys)	PREX2 (N974K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 713362	NM_024870.4(PREX2):c.2930C>T (p.Ser977Leu)	PREX2 (S977L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2509852	NM_024870.4(PREX2):c.2971A>G (p.Thr991Ala)	PREX2 (T991A)	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 3218585	NM_024870.4(PREX2):c.3065C>T (p.Thr1022Ile)	PREX2 (T1022I)	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 2550136	NM_024870.4(PREX2):c.3148C>T (p.Leu1050Phe)	PREX2 (L1050F)	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 3218586	NM_024870.4(PREX2):c.3185G>A (p.Arg1062His)	PREX2 (R1062H)	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 2658644	NM_024870.4(PREX2):c.3321T>C (p.Ser1107=)	PREX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 545110	NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)	PREX2 (A1119T)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GLikely pathogenic

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