ClinVar for Gene (Select 3096) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357058	NM_002114.4(HIVEP1):c.2811C>T (p.Ser937=)	HIVEP1	Single nucleotide variant (synonymous variant)	HIVEP1-related disorder	GLikely benign
Select item 3353137	NM_002114.4(HIVEP1):c.5013G>C (p.Gln1671His)	HIVEP1 (Q1671H)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 3350787	NM_002114.4(HIVEP1):c.541T>C (p.Ser181Pro)	HIVEP1 (S181P)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 3284374	NM_002114.4(HIVEP1):c.1310T>C (p.Val437Ala)	HIVEP1 (V437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284373	NM_002114.4(HIVEP1):c.4624A>G (p.Lys1542Glu)	HIVEP1 (K1542E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284372	NM_002114.4(HIVEP1):c.6131C>G (p.Ser2044Cys)	HIVEP1 (S2044C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284371	NM_002114.4(HIVEP1):c.1570A>G (p.Asn524Asp)	HIVEP1 (N524D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284370	NM_002114.4(HIVEP1):c.4628A>T (p.Asn1543Ile)	HIVEP1 (N1543I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284369	NM_002114.4(HIVEP1):c.7684G>A (p.Ala2562Thr)	HIVEP1 (A2562T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284368	NM_002114.4(HIVEP1):c.4954C>G (p.Leu1652Val)	HIVEP1 (L1652V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284367	NM_002114.4(HIVEP1):c.4643G>C (p.Gly1548Ala)	HIVEP1 (G1548A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284366	NM_002114.4(HIVEP1):c.7820A>T (p.Gln2607Leu)	HIVEP1 (Q2607L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284365	NM_002114.4(HIVEP1):c.7051G>C (p.Val2351Leu)	HIVEP1, LOC129995791 (V2351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284364	NM_002114.4(HIVEP1):c.6692A>C (p.Asp2231Ala)	HIVEP1 (D2231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284363	NM_002114.4(HIVEP1):c.5914G>A (p.Ala1972Thr)	HIVEP1 (A1972T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284362	NM_002114.4(HIVEP1):c.778A>G (p.Thr260Ala)	HIVEP1 (T260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284361	NM_002114.4(HIVEP1):c.6530T>C (p.Leu2177Pro)	HIVEP1 (L2177P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284360	NM_002114.4(HIVEP1):c.2783C>G (p.Ala928Gly)	HIVEP1 (A928G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284359	NM_002114.4(HIVEP1):c.7420G>A (p.Val2474Met)	HIVEP1 (V2474M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284358	NM_002114.4(HIVEP1):c.6515G>A (p.Arg2172Gln)	HIVEP1 (R2172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284357	NM_002114.4(HIVEP1):c.2789G>T (p.Gly930Val)	HIVEP1 (G930V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284356	NM_002114.4(HIVEP1):c.4456A>G (p.Thr1486Ala)	HIVEP1 (T1486A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284355	NM_002114.4(HIVEP1):c.7822C>T (p.Arg2608Trp)	HIVEP1 (R2608W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284354	NM_002114.4(HIVEP1):c.3050G>T (p.Gly1017Val)	HIVEP1 (G1017V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284353	NM_002114.4(HIVEP1):c.7814C>T (p.Thr2605Ile)	HIVEP1 (T2605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284352	NM_002114.4(HIVEP1):c.905C>T (p.Pro302Leu)	HIVEP1 (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250746	NM_002114.4(HIVEP1):c.1846T>C (p.Leu616=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250745	NM_002114.4(HIVEP1):c.6777C>G (p.Val2259=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250562	NM_002114.4(HIVEP1):c.6000C>T (p.Tyr2000=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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