HIVEP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 1707465	Single allele	ADTRP, EDN1 +47 more	Duplication	not specified	GUncertain significance
Select item 2656227	NM_002114.4(HIVEP1):c.15A>G (p.Lys5=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313837	NM_002114.4(HIVEP1):c.38G>A (p.Arg13Lys)	HIVEP1 (R13K)	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 2296206	NM_002114.4(HIVEP1):c.253G>A (p.Ala85Thr)	HIVEP1 (A85T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785158	NM_002114.4(HIVEP1):c.262C>T (p.His88Tyr)	HIVEP1 (H88Y)	Single nucleotide variant (missense variant)	not provided	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 3106011	NM_002114.4(HIVEP1):c.298A>C (p.Ile100Leu)	HIVEP1 (I100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316525	NM_002114.4(HIVEP1):c.409C>G (p.Leu137Val)	HIVEP1 (L137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2276364	NM_002114.4(HIVEP1):c.480T>A (p.Asp160Glu)	HIVEP1 (D160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708913	NM_002114.4(HIVEP1):c.508A>G (p.Ser170Gly)	HIVEP1 (S170G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2398708	NM_002114.4(HIVEP1):c.532G>A (p.Glu178Lys)	HIVEP1 (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768063	NM_002114.4(HIVEP1):c.624C>T (p.Ser208=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656228	NM_002114.4(HIVEP1):c.636A>G (p.Gln212=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3284362	NM_002114.4(HIVEP1):c.778A>G (p.Thr260Ala)	HIVEP1 (T260A)	Single nucleotide variant (missense variant)	not specified	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 2389889	NM_002114.4(HIVEP1):c.884A>G (p.Asn295Ser)	HIVEP1 (N295S)	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 3284352	NM_002114.4(HIVEP1):c.905C>T (p.Pro302Leu)	HIVEP1 (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2380841	NM_002114.4(HIVEP1):c.937A>C (p.Asn313His)	HIVEP1 (N313H)	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 708914	NM_002114.4(HIVEP1):c.1085C>T (p.Pro362Leu)	HIVEP1 (P362L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3106001	NM_002114.4(HIVEP1):c.1151A>C (p.Asn384Thr)	HIVEP1 (N384T)	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 3284374	NM_002114.4(HIVEP1):c.1310T>C (p.Val437Ala)	HIVEP1 (V437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210927	NM_002114.4(HIVEP1):c.1369G>A (p.Ala457Thr)	HIVEP1 (A457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338429	NM_002114.4(HIVEP1):c.1490A>G (p.Glu497Gly)	HIVEP1 (E497G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656229	NM_002114.4(HIVEP1):c.1497C>T (p.Gly499=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 768064	NM_002114.4(HIVEP1):c.1585C>T (p.Leu529=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1677373	NM_002114.4(HIVEP1):c.1786C>T (p.Leu596Phe)	HIVEP1 (L596F)	Single nucleotide variant (missense variant)	not provided	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 2509652	NM_002114.4(HIVEP1):c.1801G>A (p.Val601Ile)	HIVEP1 (V601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294511	NM_002114.4(HIVEP1):c.1822A>T (p.Met608Leu)	HIVEP1 (M608L)	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 3250746	NM_002114.4(HIVEP1):c.1846T>C (p.Leu616=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3053900	NM_002114.4(HIVEP1):c.1871A>G (p.Gln624Arg)	HIVEP1 (Q624R)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GLikely benign
Select item 781862	NM_002114.4(HIVEP1):c.1878C>T (p.Gly626=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2350460	NM_002114.4(HIVEP1):c.1916T>C (p.Val639Ala)	HIVEP1 (V639A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299300	NM_002114.4(HIVEP1):c.2033G>A (p.Arg678His)	HIVEP1 (R678H)	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 776108	NM_002114.4(HIVEP1):c.2074T>G (p.Phe692Val)	HIVEP1 (F692V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 749106	NM_002114.4(HIVEP1):c.2129C>T (p.Ser710Phe)	HIVEP1 (S710F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3106005	NM_002114.4(HIVEP1):c.2147C>T (p.Thr716Met)	HIVEP1 (T716M)	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 2484327	NM_002114.4(HIVEP1):c.2194C>T (p.Pro732Ser)	HIVEP1 (P732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2218441	NM_002114.4(HIVEP1):c.2207G>A (p.Arg736His)	HIVEP1 (R736H)	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 3106006	NM_002114.4(HIVEP1):c.2375T>A (p.Phe792Tyr)	HIVEP1 (F792Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340773	NM_002114.4(HIVEP1):c.2428C>T (p.Pro810Ser)	HIVEP1 (P810S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780595	NM_002114.4(HIVEP1):c.2482G>A (p.Val828Ile)	HIVEP1 (V828I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 789884	NM_002114.4(HIVEP1):c.2529G>A (p.Pro843=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 2233590	NM_002114.4(HIVEP1):c.2645G>A (p.Gly882Glu)	HIVEP1 (G882E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732884	NM_002114.4(HIVEP1):c.2672G>A (p.Gly891Glu)	HIVEP1 (G891E)	Single nucleotide variant (missense variant)	HIVEP1-related disorder +1 more	GLikely benign
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 402935	NM_002114.4(HIVEP1):c.2745T>C (p.Thr915=)	HIVEP1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2268961	NM_002114.4(HIVEP1):c.2747G>A (p.Gly916Glu)	HIVEP1 (G916E)	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 3284360	NM_002114.4(HIVEP1):c.2783C>G (p.Ala928Gly)	HIVEP1 (A928G)	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 3106010	NM_002114.4(HIVEP1):c.2797A>G (p.Met933Val)	HIVEP1 (M933V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319413	NM_002114.4(HIVEP1):c.2836A>G (p.Ile946Val)	HIVEP1 (I946V)	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 2369025	NM_002114.4(HIVEP1):c.2995C>T (p.His999Tyr)	HIVEP1 (H999Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248919	NM_002114.4(HIVEP1):c.3010G>A (p.Gly1004Ser)	HIVEP1 (G1004S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3106012	NM_002114.4(HIVEP1):c.3074C>T (p.Thr1025Met)	HIVEP1 (T1025M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341125	NM_002114.4(HIVEP1):c.3158A>C (p.Lys1053Thr)	HIVEP1 (K1053T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780596	NM_002114.4(HIVEP1):c.3164C>T (p.Ser1055Phe)	HIVEP1 (S1055F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2396370	NM_002114.4(HIVEP1):c.3188C>T (p.Ala1063Val)	HIVEP1 (A1063V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770920	NM_002114.4(HIVEP1):c.3204C>T (p.Pro1068=)	HIVEP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 402936	NM_002114.4(HIVEP1):c.3221A>G (p.Asn1074Ser)	HIVEP1 (N1074S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2326692	NM_002114.4(HIVEP1):c.3271T>C (p.Ser1091Pro)	HIVEP1 (S1091P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332109	NM_002114.4(HIVEP1):c.3275A>G (p.His1092Arg)	HIVEP1 (H1092R)	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 3036519	NM_002114.4(HIVEP1):c.3387C>G (p.His1129Gln)	HIVEP1 (H1129Q)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	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

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