"PreventionGenetics, part of Exact Sciences"[submitter] AND "HIVEP2"[g - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633522	NM_006734.4(HIVEP2):c.7270A>G (p.Ser2424Gly)	HIVEP2 (S2424G)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 2635028	NM_006734.4(HIVEP2):c.7160C>G (p.Pro2387Arg)	HIVEP2 (P2387R)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GUncertain significance
Select item 3040218	NM_006734.4(HIVEP2):c.6969G>A (p.Glu2323=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder	GLikely benign
Select item 3040487	NM_006734.4(HIVEP2):c.6933G>A (p.Ser2311=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder	GLikely benign
Select item 1335644	NM_006734.4(HIVEP2):c.6690C>G (p.Pro2230=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 2055521	NM_006734.4(HIVEP2):c.6609T>C (p.Pro2203=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2092254	NM_006734.4(HIVEP2):c.6601C>T (p.Leu2201Phe)	HIVEP2 (L2201F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 737163	NM_006734.4(HIVEP2):c.6517-5C>T	HIVEP2	Single nucleotide variant (intron variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 3059892	NM_006734.4(HIVEP2):c.6185G>A (p.Arg2062Lys)	HIVEP2 (R2062K)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 3057579	NM_006734.4(HIVEP2):c.6135T>C (p.His2045=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder	GLikely benign
Select item 2136669	NM_006734.4(HIVEP2):c.5956C>T (p.Pro1986Ser)	HIVEP2 (P1986S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 748829	NM_006734.4(HIVEP2):c.5854G>A (p.Ala1952Thr)	HIVEP2 (A1952T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1337352	NM_006734.4(HIVEP2):c.5853C>T (p.Gly1951=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign
Select item 2175372	NM_006734.4(HIVEP2):c.5766C>T (p.Asp1922=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 785190	NM_006734.4(HIVEP2):c.5397C>T (p.Tyr1799=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign
Select item 2637116	NM_006734.4(HIVEP2):c.5378_5379del (p.Gly1793fs)	HIVEP2 (G1793fs)	Deletion (frameshift variant)	HIVEP2-related disorder	GLikely pathogenic
Select item 722288	NM_006734.4(HIVEP2):c.5224C>A (p.Leu1742Ile)	HIVEP2 (L1742I)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1642570	NM_006734.4(HIVEP2):c.5202G>A (p.Ala1734=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 2629641	NM_006734.4(HIVEP2):c.5021G>T (p.Cys1674Phe)	HIVEP2 (C1674F)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 2632127	NM_006734.4(HIVEP2):c.4861G>A (p.Asp1621Asn)	HIVEP2 (D1621N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 737755	NM_006734.4(HIVEP2):c.4855G>A (p.Val1619Met)	HIVEP2 (V1619M)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 1972315	NM_006734.4(HIVEP2):c.4848C>T (p.Ser1616=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 710327	NM_006734.4(HIVEP2):c.4813G>C (p.Val1605Leu)	HIVEP2 (V1605L)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GBenign
Select item 2635420	NM_006734.4(HIVEP2):c.4796A>G (p.Lys1599Arg)	HIVEP2 (K1599R)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 2046505	NM_006734.4(HIVEP2):c.4728G>A (p.Ser1576=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 738472	NM_006734.4(HIVEP2):c.4656G>A (p.Pro1552=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign
Select item 1050386	NM_006734.4(HIVEP2):c.4654C>T (p.Pro1552Ser)	HIVEP2 (P1552S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2705852	NM_006734.4(HIVEP2):c.4622A>G (p.Lys1541Arg)	HIVEP2 (K1541R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2418975	NM_006734.4(HIVEP2):c.4485G>A (p.Leu1495=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3018262	NM_006734.4(HIVEP2):c.4467C>A (p.Arg1489=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 753252	NM_006734.4(HIVEP2):c.4398C>T (p.Tyr1466=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3052527	NM_006734.4(HIVEP2):c.4056C>T (p.Ser1352=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder	GLikely benign
Select item 2637199	NM_006734.4(HIVEP2):c.4019C>A (p.Thr1340Lys)	HIVEP2 (T1340K)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 2876403	NM_006734.4(HIVEP2):c.3960G>A (p.Ser1320=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1336661	NM_006734.4(HIVEP2):c.3957C>G (p.Ala1319=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign
Select item 778264	NM_006734.4(HIVEP2):c.3954T>C (p.Phe1318=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2635915	NM_006734.4(HIVEP2):c.3916A>C (p.Thr1306Pro)	HIVEP2 (T1306P)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 746835	NM_006734.4(HIVEP2):c.3877C>A (p.Leu1293Ile)	HIVEP2 (L1293I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 785191	NM_006734.4(HIVEP2):c.3813T>C (p.Tyr1271=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign
Select item 737385	NM_006734.4(HIVEP2):c.3807T>C (p.Ala1269=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 3019136	NM_006734.4(HIVEP2):c.3600A>C (p.Pro1200=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 722289	NM_006734.4(HIVEP2):c.3460G>A (p.Ala1154Thr)	HIVEP2 (A1154T)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 2428332	NM_006734.4(HIVEP2):c.3447G>A (p.Gly1149=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 785192	NM_006734.4(HIVEP2):c.3444G>C (p.Ser1148=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3037298	NM_006734.4(HIVEP2):c.3395_3436del (p.Gln1132_Pro1145del)	HIVEP2	Deletion (inframe deletion)	HIVEP2-related disorder	GUncertain significance
Select item 2682564	NM_006734.4(HIVEP2):c.3420G>A (p.Ala1140=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 778348	NM_006734.4(HIVEP2):c.3306C>T (p.Ser1102=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 737386	NM_006734.4(HIVEP2):c.3213G>A (p.Pro1071=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 2960161	NM_006734.4(HIVEP2):c.3119C>A (p.Pro1040Gln)	HIVEP2 (P1040Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2629594	NM_006734.4(HIVEP2):c.2936T>A (p.Phe979Tyr)	HIVEP2 (F979Y)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 3033616	NM_006734.4(HIVEP2):c.2814A>G (p.Lys938=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder	GLikely benign
Select item 709782	NM_006734.4(HIVEP2):c.2516G>A (p.Ser839Asn)	HIVEP2 (S839N)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 3054743	NM_006734.4(HIVEP2):c.2441T>C (p.Phe814Ser)	HIVEP2 (F814S)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 710328	NM_006734.4(HIVEP2):c.2349A>G (p.Ser783=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 3033682	NM_006734.4(HIVEP2):c.2284C>T (p.Arg762Trp)	HIVEP2 (R762W)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GLikely benign
Select item 2160613	NM_006734.4(HIVEP2):c.2269C>T (p.Arg757Cys)	HIVEP2 (R757C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2186278	NM_006734.4(HIVEP2):c.2264C>T (p.Thr755Met)	HIVEP2 (T755M)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 2656959	NM_006734.4(HIVEP2):c.2052A>C (p.Val684=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2721153	NM_006734.4(HIVEP2):c.2003A>T (p.Lys668Met)	HIVEP2 (K668M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2074366	NM_006734.4(HIVEP2):c.1925G>A (p.Arg642Gln)	HIVEP2 (R642Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 742905	NM_006734.4(HIVEP2):c.1865C>T (p.Ser622Phe)	HIVEP2 (S622F)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 748830	NM_006734.4(HIVEP2):c.1857C>T (p.Ser619=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2413551	NM_006734.4(HIVEP2):c.1824C>T (p.Val608=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2172149	NM_006734.4(HIVEP2):c.1752A>G (p.Ile584Met)	HIVEP2 (I584M)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 2872977	NM_006734.4(HIVEP2):c.1743C>T (p.Thr581=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1337260	NM_006734.4(HIVEP2):c.1722C>T (p.Asp574=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign
Select item 3037203	NM_006734.4(HIVEP2):c.1719C>T (p.Ser573=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder	GLikely benign
Select item 2169357	NM_006734.4(HIVEP2):c.1583C>T (p.Pro528Leu)	HIVEP2 (P528L)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2906589	NM_006734.4(HIVEP2):c.1575C>G (p.Gly525=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036711	NM_006734.4(HIVEP2):c.1487C>A (p.Thr496Asn)	HIVEP2 (T496N)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 720867	NM_006734.4(HIVEP2):c.1170G>A (p.Pro390=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +1 more	GLikely benign
Select item 721356	NM_006734.4(HIVEP2):c.927C>T (p.Gly309=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3058624	NM_006734.4(HIVEP2):c.853_854del (p.Ser285fs)	HIVEP2 (S285fs)	Microsatellite (frameshift variant)	HIVEP2-related disorder	GUncertain significance
Select item 782255	NM_006734.4(HIVEP2):c.776A>G (p.Asp259Gly)	HIVEP2 (D259G)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +1 more	GBenign/Likely benign
Select item 3054224	NM_006734.4(HIVEP2):c.573C>T (p.Cys191=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder	GLikely benign
Select item 3059731	NM_006734.4(HIVEP2):c.478C>A (p.Pro160Thr)	HIVEP2 (P160T)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GLikely benign
Select item 716952	NM_006734.4(HIVEP2):c.258G>A (p.Pro86=)	HIVEP2	Single nucleotide variant (synonymous variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign
Select item 711471	NM_006734.4(HIVEP2):c.194G>T (p.Gly65Val)	HIVEP2 (G65V)	Single nucleotide variant (missense variant)	HIVEP2-related disorder +2 more	GBenign/Likely benign
Select item 3052201	NM_006734.4(HIVEP2):c.176C>G (p.Ala59Gly)	HIVEP2 (A59G)	Single nucleotide variant (missense variant)	HIVEP2-related disorder	GUncertain significance
Select item 2190272	NM_006734.4(HIVEP2):c.137G>A (p.Arg46Gln)	HIVEP2 (R46Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2420714	NM_006734.4(HIVEP2):c.136C>T (p.Arg46Trp)	HIVEP2 (R46W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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Items: 81