ClinVar for Gene (Select 3096) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106044	NM_002114.4(HIVEP1):c.7960C>G (p.Gln2654Glu)	HIVEP1 (Q2654E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106043	NM_002114.4(HIVEP1):c.7901A>G (p.Asp2634Gly)	HIVEP1 (D2634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106042	NM_002114.4(HIVEP1):c.7790C>G (p.Thr2597Ser)	HIVEP1 (T2597S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106041	NM_002114.4(HIVEP1):c.7702G>C (p.Ala2568Pro)	HIVEP1 (A2568P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106040	NM_002114.4(HIVEP1):c.7496T>G (p.Val2499Gly)	HIVEP1 (V2499G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106039	NM_002114.4(HIVEP1):c.7490A>G (p.Asn2497Ser)	HIVEP1 (N2497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106038	NM_002114.4(HIVEP1):c.7265G>A (p.Gly2422Glu)	HIVEP1 (G2422E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106037	NM_002114.4(HIVEP1):c.721A>G (p.Met241Val)	HIVEP1 (M241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106035	NM_002114.4(HIVEP1):c.6852T>G (p.Asp2284Glu)	HIVEP1 (D2284E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106034	NM_002114.4(HIVEP1):c.5867C>T (p.Pro1956Leu)	HIVEP1 (P1956L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106033	NM_002114.4(HIVEP1):c.5856G>A (p.Ser1952=)	HIVEP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3106032	NM_002114.4(HIVEP1):c.5682A>C (p.Glu1894Asp)	HIVEP1 (E1894D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106031	NM_002114.4(HIVEP1):c.5657T>C (p.Leu1886Ser)	HIVEP1 (L1886S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106030	NM_002114.4(HIVEP1):c.5281C>T (p.His1761Tyr)	HIVEP1 (H1761Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106029	NM_002114.4(HIVEP1):c.5230A>T (p.Ser1744Cys)	HIVEP1 (S1744C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106028	NM_002114.4(HIVEP1):c.5185A>G (p.Ile1729Val)	HIVEP1 (I1729V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106027	NM_002114.4(HIVEP1):c.5173A>G (p.Ile1725Val)	HIVEP1 (I1725V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106026	NM_002114.4(HIVEP1):c.5150C>A (p.Ser1717Tyr)	HIVEP1 (S1717Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106025	NM_002114.4(HIVEP1):c.5144A>C (p.Gln1715Pro)	HIVEP1 (Q1715P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106024	NM_002114.4(HIVEP1):c.5116T>C (p.Cys1706Arg)	HIVEP1 (C1706R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106023	NM_002114.4(HIVEP1):c.4556A>G (p.His1519Arg)	HIVEP1 (H1519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106022	NM_002114.4(HIVEP1):c.4381G>A (p.Ala1461Thr)	HIVEP1 (A1461T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106021	NM_002114.4(HIVEP1):c.431G>A (p.Arg144His)	HIVEP1 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106020	NM_002114.4(HIVEP1):c.4012T>C (p.Phe1338Leu)	HIVEP1 (F1338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106018	NM_002114.4(HIVEP1):c.3910A>G (p.Arg1304Gly)	HIVEP1 (R1304G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106017	NM_002114.4(HIVEP1):c.3794G>A (p.Arg1265His)	HIVEP1 (R1265H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106016	NM_002114.4(HIVEP1):c.3653A>G (p.His1218Arg)	HIVEP1 (H1218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106015	NM_002114.4(HIVEP1):c.3563G>A (p.Arg1188Gln)	HIVEP1 (R1188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106014	NM_002114.4(HIVEP1):c.3562C>T (p.Arg1188Trp)	HIVEP1 (R1188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106013	NM_002114.4(HIVEP1):c.3478G>A (p.Val1160Ile)	HIVEP1 (V1160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106012	NM_002114.4(HIVEP1):c.3074C>T (p.Thr1025Met)	HIVEP1 (T1025M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106011	NM_002114.4(HIVEP1):c.298A>C (p.Ile100Leu)	HIVEP1 (I100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106010	NM_002114.4(HIVEP1):c.2797A>G (p.Met933Val)	HIVEP1 (M933V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106009	NM_002114.4(HIVEP1):c.278C>G (p.Ser93Cys)	HIVEP1 (S93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106008	NM_002114.4(HIVEP1):c.2677C>T (p.Pro893Ser)	HIVEP1 (P893S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106007	NM_002114.4(HIVEP1):c.2501T>C (p.Leu834Ser)	HIVEP1 (L834S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106006	NM_002114.4(HIVEP1):c.2375T>A (p.Phe792Tyr)	HIVEP1 (F792Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106005	NM_002114.4(HIVEP1):c.2147C>T (p.Thr716Met)	HIVEP1 (T716M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106004	NM_002114.4(HIVEP1):c.2137C>T (p.Leu713Phe)	HIVEP1 (L713F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106003	NM_002114.4(HIVEP1):c.2102A>T (p.Gln701Leu)	HIVEP1 (Q701L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106002	NM_002114.4(HIVEP1):c.1787T>C (p.Leu596Pro)	HIVEP1 (L596P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106001	NM_002114.4(HIVEP1):c.1151A>C (p.Asn384Thr)	HIVEP1 (N384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053900	NM_002114.4(HIVEP1):c.1871A>G (p.Gln624Arg)	HIVEP1 (Q624R)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GLikely benign
Select item 3052158	NM_002114.4(HIVEP1):c.915A>G (p.Ser305=)	HIVEP1	Single nucleotide variant (synonymous variant)	HIVEP1-related disorder	GLikely benign
Select item 3047876	NM_002114.4(HIVEP1):c.2196A>T (p.Pro732=)	HIVEP1	Single nucleotide variant (synonymous variant)	HIVEP1-related disorder	GLikely benign
Select item 3044037	NM_002114.4(HIVEP1):c.7202T>C (p.Val2401Ala)	HIVEP1 (V2401A)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GLikely benign
Select item 3043934	NM_002114.4(HIVEP1):c.7687G>A (p.Val2563Ile)	HIVEP1 (V2563I)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GLikely benign
Select item 3036519	NM_002114.4(HIVEP1):c.3387C>G (p.His1129Gln)	HIVEP1 (H1129Q)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2656232	NM_002114.4(HIVEP1):c.7771G>A (p.Ala2591Thr)	HIVEP1 (A2591T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656231	NM_002114.4(HIVEP1):c.7113A>G (p.Pro2371=)	HIVEP1, LOC129995792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656230	NM_002114.4(HIVEP1):c.6741C>T (p.Asp2247=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656229	NM_002114.4(HIVEP1):c.1497C>T (p.Gly499=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656228	NM_002114.4(HIVEP1):c.636A>G (p.Gln212=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656227	NM_002114.4(HIVEP1):c.15A>G (p.Lys5=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636990	NM_002114.4(HIVEP1):c.2631T>A (p.Asp877Glu)	HIVEP1 (D877E)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 2635152	NM_002114.4(HIVEP1):c.5896A>C (p.Thr1966Pro)	HIVEP1 (T1966P)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 2628779	NM_002114.4(HIVEP1):c.778A>C (p.Thr260Pro)	HIVEP1 (T260P)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 2621580	NM_002114.4(HIVEP1):c.7022G>A (p.Ser2341Asn)	HIVEP1, LOC129995791 (S2341N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621520	NM_002114.4(HIVEP1):c.4042C>G (p.Pro1348Ala)	HIVEP1 (P1348A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618971	NM_002114.4(HIVEP1):c.7645A>G (p.Ile2549Val)	HIVEP1 (I2549V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617871	NM_002114.4(HIVEP1):c.3679G>A (p.Val1227Ile)	HIVEP1 (V1227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611748	NM_002114.4(HIVEP1):c.4912A>G (p.Ile1638Val)	HIVEP1 (I1638V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610195	NM_002114.4(HIVEP1):c.5368G>A (p.Ala1790Thr)	HIVEP1 (A1790T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604496	NM_002114.4(HIVEP1):c.896A>G (p.Gln299Arg)	HIVEP1 (Q299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604318	NM_002114.4(HIVEP1):c.7510A>C (p.Thr2504Pro)	HIVEP1 (T2504P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602700	NM_002114.4(HIVEP1):c.4604C>T (p.Thr1535Met)	HIVEP1 (T1535M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600283	NM_002114.4(HIVEP1):c.1273A>C (p.Ile425Leu)	HIVEP1 (I425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595374	NM_002114.4(HIVEP1):c.1910C>G (p.Ser637Cys)	HIVEP1 (S637C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555720	NM_002114.4(HIVEP1):c.6517T>C (p.Ser2173Pro)	HIVEP1 (S2173P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555332	NM_002114.4(HIVEP1):c.1824G>A (p.Met608Ile)	HIVEP1 (M608I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554951	NM_002114.4(HIVEP1):c.3320A>G (p.Lys1107Arg)	HIVEP1 (K1107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554547	NM_002114.4(HIVEP1):c.2068A>G (p.Thr690Ala)	HIVEP1 (T690A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551846	NM_002114.4(HIVEP1):c.4667T>C (p.Phe1556Ser)	HIVEP1 (F1556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549161	NM_002114.4(HIVEP1):c.4339C>T (p.His1447Tyr)	HIVEP1 (H1447Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544551	NM_002114.4(HIVEP1):c.6415G>A (p.Ala2139Thr)	HIVEP1 (A2139T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540647	NM_002114.4(HIVEP1):c.4538A>G (p.Asn1513Ser)	HIVEP1 (N1513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536147	NM_002114.4(HIVEP1):c.6838C>T (p.Arg2280Cys)	HIVEP1 (R2280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534955	NM_002114.4(HIVEP1):c.2891G>T (p.Cys964Phe)	HIVEP1 (C964F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526167	NM_002114.4(HIVEP1):c.4234C>G (p.Arg1412Gly)	HIVEP1 (R1412G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523135	NM_002114.4(HIVEP1):c.5676C>G (p.Asn1892Lys)	HIVEP1 (N1892K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519899	NM_002114.4(HIVEP1):c.4291C>T (p.Arg1431Trp)	HIVEP1 (R1431W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519213	NM_002114.4(HIVEP1):c.5585A>T (p.Lys1862Met)	HIVEP1 (K1862M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512129	NM_002114.4(HIVEP1):c.2782G>A (p.Ala928Thr)	HIVEP1 (A928T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509652	NM_002114.4(HIVEP1):c.1801G>A (p.Val601Ile)	HIVEP1 (V601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496257	NM_002114.4(HIVEP1):c.72T>G (p.Asn24Lys)	HIVEP1 (N24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486135	NM_002114.4(HIVEP1):c.3447C>G (p.Asp1149Glu)	HIVEP1 (D1149E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484327	NM_002114.4(HIVEP1):c.2194C>T (p.Pro732Ser)	HIVEP1 (P732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479308	NM_002114.4(HIVEP1):c.7405A>C (p.Ile2469Leu)	HIVEP1 (I2469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478953	NM_002114.4(HIVEP1):c.6856A>C (p.Asn2286His)	HIVEP1 (N2286H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461968	NM_002114.4(HIVEP1):c.1057G>T (p.Asp353Tyr)	HIVEP1 (D353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459844	NM_002114.4(HIVEP1):c.1865C>T (p.Ser622Phe)	HIVEP1 (S622F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459831	NM_002114.4(HIVEP1):c.4736A>G (p.His1579Arg)	HIVEP1 (H1579R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411358	NM_002114.4(HIVEP1):c.7823G>A (p.Arg2608Gln)	HIVEP1 (R2608Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2411022	NM_002114.4(HIVEP1):c.1103C>T (p.Ser368Leu)	HIVEP1 (S368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410358	NM_002114.4(HIVEP1):c.2239C>T (p.Arg747Trp)	HIVEP1 (R747W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408111	NM_002114.4(HIVEP1):c.2188C>T (p.Leu730Phe)	HIVEP1 (L730F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407106	NM_002114.4(HIVEP1):c.4505A>C (p.Asn1502Thr)	HIVEP1 (N1502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406493	NM_002114.4(HIVEP1):c.7779G>C (p.Gln2593His)	HIVEP1 (Q2593H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406453	NM_002114.4(HIVEP1):c.5458C>A (p.Gln1820Lys)	HIVEP1 (Q1820K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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