ClinVar for Gene (Select 8288) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276147	NM_000502.6(EPX):c.337A>C (p.Asn113His)	EPX (N113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276146	NM_000502.6(EPX):c.1853C>A (p.Ala618Asp)	EPX (A618D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276145	NM_000502.6(EPX):c.149C>T (p.Ala50Val)	EPX (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276144	NM_000502.6(EPX):c.1316T>C (p.Leu439Pro)	EPX (L439P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276143	NM_000502.6(EPX):c.482G>A (p.Gly161Glu)	EPX (G161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276142	NM_000502.6(EPX):c.1273A>G (p.Met425Val)	EPX (M425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276141	NM_000502.6(EPX):c.1529T>C (p.Val510Ala)	EPX (V510A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276140	NM_000502.6(EPX):c.971G>A (p.Arg324Gln)	EPX (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276139	NM_000502.6(EPX):c.1382G>A (p.Arg461Gln)	EPX (R461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276137	NM_000502.6(EPX):c.1291T>A (p.Tyr431Asn)	EPX (Y431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276136	NM_000502.6(EPX):c.193G>A (p.Gly65Ser)	EPX (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090009	NM_000502.6(EPX):c.632A>G (p.Asn211Ser)	EPX (N211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090008	NM_000502.6(EPX):c.440C>G (p.Thr147Ser)	EPX (T147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090007	NM_000502.6(EPX):c.370C>T (p.Arg124Trp)	EPX (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090006	NM_000502.6(EPX):c.2095G>A (p.Val699Met)	EPX (V699M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090005	NM_000502.6(EPX):c.1953G>C (p.Trp651Cys)	EPX (W651C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090004	NM_000502.6(EPX):c.188G>A (p.Arg63His)	EPX (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090003	NM_000502.6(EPX):c.1873C>T (p.Pro625Ser)	EPX (P625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090002	NM_000502.6(EPX):c.1835T>C (p.Ile612Thr)	EPX (I612T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090001	NM_000502.6(EPX):c.1687A>C (p.Ser563Arg)	EPX (S563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090000	NM_000502.6(EPX):c.1619T>C (p.Leu540Pro)	EPX (L540P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089998	NM_000502.6(EPX):c.1591C>T (p.Arg531Cys)	EPX (R531C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089997	NM_000502.6(EPX):c.1552A>G (p.Ile518Val)	EPX (I518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089996	NM_000502.6(EPX):c.1523G>A (p.Arg508Gln)	EPX (R508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089995	NM_000502.6(EPX):c.14C>T (p.Pro5Leu)	EPX (P5L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089994	NM_000502.6(EPX):c.1492C>A (p.Pro498Thr)	EPX (P498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089993	NM_000502.6(EPX):c.1484C>T (p.Ser495Leu)	EPX (S495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089992	NM_000502.6(EPX):c.1447C>T (p.Arg483Cys)	EPX (R483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089991	NM_000502.6(EPX):c.1412G>A (p.Arg471His)	EPX (R471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089990	NM_000502.6(EPX):c.1266G>A (p.Met422Ile)	EPX (M422I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089989	NM_000502.6(EPX):c.1190G>A (p.Arg397Gln)	EPX (R397Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089987	NM_000502.6(EPX):c.1066G>A (p.Asp356Asn)	EPX (D356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089986	NM_000502.6(EPX):c.1065C>G (p.His355Gln)	EPX (H355Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647954	NM_000502.6(EPX):c.910G>A (p.Ala304Thr)	EPX (A304T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598858	NM_000502.6(EPX):c.1988G>A (p.Arg663His)	EPX (R663H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592223	NM_000502.6(EPX):c.409C>G (p.Gln137Glu)	EPX (Q137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590620	NM_000502.6(EPX):c.1934G>A (p.Arg645Gln)	EPX (R645Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536686	NM_000502.6(EPX):c.1477C>T (p.Pro493Ser)	EPX (P493S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535070	NM_000502.6(EPX):c.1964G>A (p.Arg655Gln)	EPX (R655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521634	NM_000502.6(EPX):c.1592G>A (p.Arg531His)	EPX (R531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509374	NM_000502.6(EPX):c.1858G>A (p.Ala620Thr)	EPX (A620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508136	NM_000502.6(EPX):c.1690C>T (p.Arg564Trp)	EPX (R564W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480708	NM_000502.6(EPX):c.1334G>A (p.Arg445Lys)	EPX (R445K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464451	NM_000502.6(EPX):c.613C>A (p.Gln205Lys)	EPX (Q205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	CUEDC1, DYNLL2 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429780	NC_000017.10:g.(?_55442363)_(56309063_?)del	CUEDC1, DYNLL2 +9 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2404043	NM_000502.6(EPX):c.751G>A (p.Val251Ile)	EPX (V251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402703	NM_000502.6(EPX):c.653G>A (p.Arg218His)	EPX (R218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391972	NM_000502.6(EPX):c.1255C>T (p.Arg419Trp)	EPX (R419W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373164	NM_000502.6(EPX):c.1100G>A (p.Arg367His)	EPX (R367H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364560	NM_000502.6(EPX):c.2072C>T (p.Ala691Val)	EPX (A691V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361512	NM_000502.6(EPX):c.725C>T (p.Pro242Leu)	EPX (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360714	NM_000502.6(EPX):c.911C>T (p.Ala304Val)	EPX (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356917	NM_000502.6(EPX):c.328G>A (p.Gly110Arg)	EPX (G110R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346441	NM_000502.6(EPX):c.1966G>A (p.Gly656Ser)	EPX (G656S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340482	NM_000502.6(EPX):c.313C>A (p.Gln105Lys)	EPX (Q105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338819	NM_000502.6(EPX):c.1181A>G (p.Glu394Gly)	EPX (E394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337322	NM_000502.6(EPX):c.1750C>G (p.Arg584Gly)	EPX (R584G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328359	NM_000502.6(EPX):c.1032C>A (p.Asn344Lys)	EPX (N344K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319574	NM_000502.6(EPX):c.898A>C (p.Asn300His)	EPX (N300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307364	NM_000502.6(EPX):c.2074A>T (p.Asn692Tyr)	EPX (N692Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306269	NM_000502.6(EPX):c.1223G>A (p.Arg408Gln)	EPX (R408Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305872	NM_000502.6(EPX):c.742A>G (p.Thr248Ala)	EPX (T248A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301888	NM_000502.6(EPX):c.659G>A (p.Arg220Gln)	EPX (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293227	NM_000502.6(EPX):c.599G>A (p.Arg200Gln)	EPX (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280665	NM_000502.6(EPX):c.931G>A (p.Ala311Thr)	EPX (A311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279124	NM_000502.6(EPX):c.1406C>T (p.Ala469Val)	EPX (A469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277712	NM_000502.6(EPX):c.132G>C (p.Lys44Asn)	EPX (K44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276427	NM_000502.6(EPX):c.668T>C (p.Met223Thr)	EPX (M223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271284	NM_000502.6(EPX):c.1090C>T (p.Arg364Cys)	EPX (R364C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247058	NM_000502.6(EPX):c.1375G>C (p.Asp459His)	EPX (D459H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230641	NM_000502.6(EPX):c.1211G>A (p.Arg404His)	EPX (R404H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209416	NM_000502.6(EPX):c.1201G>A (p.Glu401Lys)	EPX (E401K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205099	NM_000502.6(EPX):c.451C>T (p.Arg151Trp)	EPX (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 790723	NM_000502.6(EPX):c.1636C>T (p.Arg546Trp)	EPX (R546W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782915	NM_000502.6(EPX):c.116G>A (p.Cys39Tyr)	EPX (C39Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779025	NM_000502.6(EPX):c.801+1G>A	EPX	Single nucleotide variant (splice donor variant)	Eosinophil peroxidase deficiency +1 more	GLikely benign
Select item 777716	NM_000502.6(EPX):c.771C>A (p.Cys257Ter)	EPX (C257*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 777204	NM_000502.6(EPX):c.464+8C>T	EPX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775328	NM_000502.6(EPX):c.1714A>T (p.Asn572Tyr)	EPX (N572Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770269	NM_000502.6(EPX):c.875C>T (p.Pro292Leu)	EPX (P292L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727637	NM_000502.6(EPX):c.170+5A>G	EPX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720759	NM_000502.6(EPX):c.103G>A (p.Val35Ile)	EPX (V35I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718158	NM_000502.6(EPX):c.1872G>A (p.Leu624=)	EPX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715463	NM_000502.6(EPX):c.922T>C (p.Phe308Leu)	EPX (F308L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714738	NM_000502.6(EPX):c.915C>T (p.Leu305=)	EPX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 208340	NM_000502.6(EPX):c.1942G>A (p.Asp648Asn)	EPX (D648N)	Single nucleotide variant (missense variant)	Eosinophil peroxidase deficiency	GAffects
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 16616	NC_000017.11:g.58200228dup	EPX	Duplication	Eosinophil peroxidase deficiency	GAffects
Select item 16615	NM_000502.6(EPX):c.857G>A (p.Arg286His)	EPX (R286H)	Single nucleotide variant (missense variant)	Eosinophil peroxidase deficiency	GAffects

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 100