ClinVar for Gene (Select 8288) - ClinVar - NCBI

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	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 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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

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