3097[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2063544	NM_006734.4(HIVEP2):c.7313C>T (p.Pro2438Leu)	HIVEP2 (P2438L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 931829	NM_006734.4(HIVEP2):c.7310A>C (p.Asp2437Ala)	HIVEP2 (D2437A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2820001	NM_006734.4(HIVEP2):c.7306A>C (p.Lys2436Gln)	HIVEP2 (K2436Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904539	NM_006734.4(HIVEP2):c.7304del (p.Ser2435fs)	HIVEP2 (S2435fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2077467	NM_006734.4(HIVEP2):c.7299G>A (p.Glu2433=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2826133	NM_006734.4(HIVEP2):c.7277A>G (p.Lys2426Arg)	HIVEP2 (K2426R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2662420	NM_006734.4(HIVEP2):c.7262A>G (p.Asp2421Gly)	HIVEP2 (D2421G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050779	NM_006734.4(HIVEP2):c.7223C>T (p.Thr2408Met)	HIVEP2 (T2408M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2081132	NM_006734.4(HIVEP2):c.7216C>T (p.His2406Tyr)	HIVEP2 (H2406Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2784475	NM_006734.4(HIVEP2):c.7212A>G (p.Leu2404=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3365661	NM_006734.4(HIVEP2):c.7208C>T (p.Pro2403Leu)	HIVEP2 (P2403L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339652	NM_006734.4(HIVEP2):c.7206T>A (p.Thr2402=)	HIVEP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2656948	NM_006734.4(HIVEP2):c.7204A>C (p.Thr2402Pro)	HIVEP2 (T2402P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2786672	NM_006734.4(HIVEP2):c.7173T>C (p.Asp2391=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1702604	NM_006734.4(HIVEP2):c.7169A>G (p.His2390Arg)	HIVEP2 (H2390R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812644	NM_006734.4(HIVEP2):c.7168C>A (p.His2390Asn)	HIVEP2 (H2390N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635028	NM_006734.4(HIVEP2):c.7160C>G (p.Pro2387Arg)	HIVEP2 (P2387R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 871325	NM_006734.4(HIVEP2):c.7158C>A (p.His2386Gln)	HIVEP2 (H2386Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910641	NM_006734.4(HIVEP2):c.7116T>C (p.Phe2372=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2073508	NM_006734.4(HIVEP2):c.7105A>G (p.Ile2369Val)	HIVEP2 (I2369V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2040055	NM_006734.4(HIVEP2):c.7098T>C (p.His2366=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106066	NM_006734.4(HIVEP2):c.7097A>G (p.His2366Arg)	HIVEP2 (H2366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2084728	NM_006734.4(HIVEP2):c.7096C>T (p.His2366Tyr)	HIVEP2 (H2366Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3106065	NM_006734.4(HIVEP2):c.7088G>A (p.Gly2363Glu)	HIVEP2 (G2363E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2323088	NM_006734.4(HIVEP2):c.7087G>A (p.Gly2363Arg)	HIVEP2 (G2363R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325810	NM_006734.4(HIVEP2):c.7072C>T (p.His2358Tyr)	HIVEP2 (H2358Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 718282	NM_006734.4(HIVEP2):c.7069C>T (p.Pro2357Ser)	HIVEP2 (P2357S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2416961	NM_006734.4(HIVEP2):c.7059G>T (p.Arg2353=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432463	NM_006734.4(HIVEP2):c.7056G>A (p.Ala2352=)	HIVEP2	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 3106064	NM_006734.4(HIVEP2):c.7039G>A (p.Gly2347Arg)	HIVEP2 (G2347R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445845	NM_006734.4(HIVEP2):c.7036C>T (p.Leu2346Phe)	HIVEP2 (L2346F)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2432457	NM_006734.4(HIVEP2):c.7019C>T (p.Thr2340Met)	HIVEP2 (T2340M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2876220	NM_006734.4(HIVEP2):c.7005T>G (p.Ser2335=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109882	NM_006734.4(HIVEP2):c.7000G>C (p.Ala2334Pro)	HIVEP2 (A2334P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3106063	NM_006734.4(HIVEP2):c.6997A>C (p.Ile2333Leu)	HIVEP2 (I2333L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2769605	NM_006734.4(HIVEP2):c.6983C>A (p.Thr2328Asn)	HIVEP2 (T2328N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1976952	NM_006734.4(HIVEP2):c.6981G>A (p.Gln2327=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 520986	NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter)	HIVEP2 (Q2322*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2995139	NM_006734.4(HIVEP2):c.6958C>T (p.Arg2320Trp)	HIVEP2 (R2320W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784637	NM_006734.4(HIVEP2):c.6953C>A (p.Thr2318Lys)	HIVEP2 (T2318K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2878851	NM_006734.4(HIVEP2):c.6949G>T (p.Ala2317Ser)	HIVEP2 (A2317S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1928166	NM_006734.4(HIVEP2):c.6948C>A (p.Asn2316Lys)	HIVEP2 (N2316K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2046486	NM_006734.4(HIVEP2):c.6942C>G (p.Ser2314Arg)	HIVEP2 (S2314R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3284379	NM_006734.4(HIVEP2):c.6935A>G (p.Glu2312Gly)	HIVEP2 (E2312G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2870883	NM_006734.4(HIVEP2):c.6930T>G (p.Thr2310=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1304870	NM_006734.4(HIVEP2):c.6911T>A (p.Leu2304Gln)	HIVEP2 (L2304Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872905	NM_006734.4(HIVEP2):c.6907C>T (p.Arg2303Trp)	HIVEP2 (R2303W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504547	NM_006734.4(HIVEP2):c.6904C>G (p.Pro2302Ala)	HIVEP2 (P2302A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157454	NM_006734.4(HIVEP2):c.6901T>C (p.Ser2301Pro)	HIVEP2 (S2301P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 975715	NM_006734.4(HIVEP2):c.6892A>T (p.Thr2298Ser)	HIVEP2 (T2298S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2166964	NM_006734.4(HIVEP2):c.6884_6885inv (p.Pro2295Leu)	HIVEP2 (P2295L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 402939	NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=)	HIVEP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 785806	NM_006734.4(HIVEP2):c.6884C>T (p.Pro2295Leu)	HIVEP2 (P2295L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43 +2 more	GLikely benign
Select item 758183	NM_006734.4(HIVEP2):c.6864C>T (p.His2288=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3370221	NM_006734.4(HIVEP2):c.6863A>C (p.His2288Pro)	HIVEP2 (H2288P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937405	NM_006734.4(HIVEP2):c.6859C>T (p.Pro2287Ser)	HIVEP2 (P2287S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2880785	NM_006734.4(HIVEP2):c.6858T>G (p.Gly2286=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758085	NM_006734.4(HIVEP2):c.6858T>A (p.Gly2286=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2183951	NM_006734.4(HIVEP2):c.6852G>A (p.Lys2284=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1720833	NM_006734.4(HIVEP2):c.6835T>C (p.Ser2279Pro)	HIVEP2 (S2279P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2787093	NM_006734.4(HIVEP2):c.6829G>A (p.Val2277Met)	HIVEP2 (V2277M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902426	NM_006734.4(HIVEP2):c.6812T>C (p.Phe2271Ser)	HIVEP2 (F2271S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2890704	NM_006734.4(HIVEP2):c.6809C>G (p.Ser2270Cys)	HIVEP2 (S2270C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234350	NM_006734.4(HIVEP2):c.6797C>T (p.Ala2266Val)	HIVEP2 (A2266V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1972676	NM_006734.4(HIVEP2):c.6795C>T (p.Gly2265=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3106062	NM_006734.4(HIVEP2):c.6776G>A (p.Gly2259Asp)	HIVEP2 (G2259D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432464	NM_006734.4(HIVEP2):c.6769A>G (p.Met2257Val)	HIVEP2 (M2257V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 1333954	NM_006734.4(HIVEP2):c.6766C>A (p.Pro2256Thr)	HIVEP2 (P2256T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 2771099	NM_006734.4(HIVEP2):c.6760C>T (p.Pro2254Ser)	HIVEP2 (P2254S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057335	NM_006734.4(HIVEP2):c.6752C>A (p.Pro2251His)	HIVEP2 (P2251H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076373	NM_006734.4(HIVEP2):c.6723G>A (p.Pro2241=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2796998	NM_006734.4(HIVEP2):c.6722C>T (p.Pro2241Leu)	HIVEP2 (P2241L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2205154	NM_006734.4(HIVEP2):c.6718A>G (p.Met2240Val)	HIVEP2 (M2240V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 984854	NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu)	HIVEP2 (G2233E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175858	NM_006734.4(HIVEP2):c.6691G>A (p.Val2231Ile)	HIVEP2 (V2231I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1335644	NM_006734.4(HIVEP2):c.6690C>G (p.Pro2230=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2785212	NM_006734.4(HIVEP2):c.6687G>T (p.Val2229=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 453142	NM_006734.4(HIVEP2):c.6676A>C (p.Ile2226Leu)	HIVEP2 (I2226L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341402	NM_006734.4(HIVEP2):c.6668G>A (p.Arg2223Gln)	HIVEP2 (R2223Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 43	GUncertain significance
Select item 620226	NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter)	HIVEP2 (R2223*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3284378	NM_006734.4(HIVEP2):c.6655C>T (p.Gln2219Ter)	HIVEP2 (Q2219*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2874248	NM_006734.4(HIVEP2):c.6651C>T (p.His2217=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2444599	NM_006734.4(HIVEP2):c.6631T>C (p.Phe2211Leu)	HIVEP2 (F2211L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703505	NM_006734.4(HIVEP2):c.6626_6627del (p.Tyr2209fs)	HIVEP2 (Y2209fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 739557	NM_006734.4(HIVEP2):c.6621T>C (p.Asn2207=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981341	NM_006734.4(HIVEP2):c.6617_6618del (p.Pro2206fs)	HIVEP2 (P2206fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 2870649	NM_006734.4(HIVEP2):c.6616C>T (p.Pro2206Ser)	HIVEP2 (P2206S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 987463	NM_006734.4(HIVEP2):c.6609_6616del (p.Pro2203_Glu2204insTer)	HIVEP2	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2111160	NM_006734.4(HIVEP2):c.6609T>A (p.Pro2203=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055521	NM_006734.4(HIVEP2):c.6609T>C (p.Pro2203=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3233758	NM_006734.4(HIVEP2):c.6602T>C (p.Leu2201Pro)	HIVEP2 (L2201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2875180	NM_006734.4(HIVEP2):c.6600C>T (p.Ser2200=)	HIVEP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854401	NM_006734.4(HIVEP2):c.6565G>T (p.Asp2189Tyr)	HIVEP2 (D2189Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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