ClinVar for Gene (Select 2053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276021	NM_001979.6(EPHX2):c.53C>T (p.Ala18Val)	EPHX2 (A18V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3276020	NM_001979.6(EPHX2):c.458C>T (p.Ser153Leu)	EPHX2 (S100L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276019	NM_001979.6(EPHX2):c.1207C>G (p.Arg403Gly)	EPHX2 (R350G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276018	NM_001979.6(EPHX2):c.442G>A (p.Asp148Asn)	EPHX2 (D82N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276017	NM_001979.6(EPHX2):c.176C>A (p.Thr59Lys)	EPHX2 (T6K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276016	NM_001979.6(EPHX2):c.1516C>A (p.His506Asn)	EPHX2 (H453N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276015	NM_001979.6(EPHX2):c.1301A>G (p.Glu434Gly)	EPHX2 (E368G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276014	NM_001979.6(EPHX2):c.1202T>C (p.Leu401Pro)	EPHX2 (L348P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276013	NM_001979.6(EPHX2):c.1406T>C (p.Met469Thr)	EPHX2 (M437T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089719	NM_001979.6(EPHX2):c.775C>T (p.Pro259Ser)	EPHX2 (P218S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089718	NM_001979.6(EPHX2):c.62G>A (p.Gly21Asp)	EPHX2 (G21D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3089717	NM_001979.6(EPHX2):c.524C>A (p.Ala175Asp)	EPHX2 (A109D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089716	NM_001979.6(EPHX2):c.1664T>G (p.Met555Arg)	EPHX2 (M489R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3089715	NM_001979.6(EPHX2):c.1642A>G (p.Asn548Asp)	EPHX2 (N516D +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3089714	NM_001979.6(EPHX2):c.1154T>C (p.Leu385Pro)	EPHX2 (L385P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3060428	NM_001979.6(EPHX2):c.1236C>T (p.Ser412=)	EPHX2	Single nucleotide variant (synonymous variant +1 more)	EPHX2-related disorder	GBenign
Select item 3059509	NM_001979.6(EPHX2):c.164A>G (p.Lys55Arg)	EPHX2 (K2R +1 more)	Single nucleotide variant (missense variant +2 more)	EPHX2-related disorder	GBenign
Select item 3058383	NM_001979.6(EPHX2):c.1081C>T (p.Pro361Ser)	EPHX2 (P295S +4 more)	Single nucleotide variant (missense variant +1 more)	EPHX2-related disorder	GBenign
Select item 3056563	NM_001979.6(EPHX2):c.266A>G (p.Lys89Arg)	EPHX2 (K23R +2 more)	Single nucleotide variant (missense variant +1 more)	EPHX2-related disorder	GBenign
Select item 3055553	NM_001979.6(EPHX2):c.1275G>A (p.Ala425=)	EPHX2	Single nucleotide variant (synonymous variant +1 more)	EPHX2-related disorder	GBenign
Select item 3045333	NM_001979.6(EPHX2):c.909C>T (p.Pro303=)	EPHX2	Single nucleotide variant (synonymous variant +1 more)	EPHX2-related disorder	GLikely benign
Select item 3043879	NM_001979.6(EPHX2):c.674C>T (p.Pro225Leu)	EPHX2 (P225L +3 more)	Single nucleotide variant (missense variant +1 more)	EPHX2-related disorder	GLikely benign
Select item 3040006	NM_001979.6(EPHX2):c.810T>C (p.Ser270=)	EPHX2	Single nucleotide variant (synonymous variant +2 more)	EPHX2-related disorder	GLikely benign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2622806	NM_001979.6(EPHX2):c.1344G>C (p.Gln448His)	EPHX2 (Q382H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618090	NM_001979.6(EPHX2):c.142G>T (p.Gly48Cys)	EPHX2 (G48C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2568834	NM_001979.6(EPHX2):c.1478C>T (p.Ala493Val)	EPHX2 (A427V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559164	NM_001979.6(EPHX2):c.1217A>G (p.Lys406Arg)	EPHX2 (K374R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489527	NM_001979.6(EPHX2):c.1616T>C (p.Ile539Thr)	EPHX2 (I473T +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2488400	NM_001979.6(EPHX2):c.287T>A (p.Ile96Asn)	EPHX2 (I30N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477291	NM_001979.6(EPHX2):c.1583T>C (p.Met528Thr)	EPHX2 (M462T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473792	NM_001979.6(EPHX2):c.556A>G (p.Ile186Val)	EPHX2 (I120V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2468222	NM_001979.6(EPHX2):c.859C>T (p.Arg287Trp)	EPHX2 (R221W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408727	NM_001979.6(EPHX2):c.704G>A (p.Ser235Asn)	EPHX2 (S182N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404875	NM_001979.6(EPHX2):c.1517A>G (p.His506Arg)	EPHX2 (H440R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400249	NM_001979.6(EPHX2):c.1207C>T (p.Arg403Trp)	EPHX2 (R403W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2364247	NM_001979.6(EPHX2):c.745C>T (p.Arg249Cys)	EPHX2 (R183C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361095	NM_001979.6(EPHX2):c.395A>T (p.Glu132Val)	EPHX2 (E132V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341761	NM_001979.6(EPHX2):c.1125C>G (p.Ile375Met)	EPHX2 (I309M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340134	NM_001979.6(EPHX2):c.1547G>T (p.Arg516Met)	EPHX2 (R450M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325634	NM_001979.6(EPHX2):c.160A>T (p.Met54Leu)	EPHX2 (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308265	NM_001979.6(EPHX2):c.335T>G (p.Leu112Arg)	EPHX2 (L112R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303734	NM_001979.6(EPHX2):c.746G>A (p.Arg249His)	EPHX2 (R183H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288557	NM_001979.6(EPHX2):c.1445G>A (p.Arg482Gln)	EPHX2 (R429Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286924	NM_001979.6(EPHX2):c.311C>G (p.Pro104Arg)	EPHX2 (P104R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279755	NM_001979.6(EPHX2):c.926G>T (p.Cys309Phe)	EPHX2 (C256F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274105	NM_001979.6(EPHX2):c.1349A>G (p.Tyr450Cys)	EPHX2 (Y384C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227176	NM_001979.6(EPHX2):c.1061C>T (p.Ala354Val)	EPHX2 (A301V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808101	GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3	CCDC25, CHRNA2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1511682	NC_000008.10:g.(?_27319146)_(28608383_?)dup	CCDC25, CHRNA2 +13 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1030498	NM_001979.6(EPHX2):c.590G>C (p.Gly197Ala)	EPHX2 (G144A +2 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
Select item 783837	NM_001979.6(EPHX2):c.155G>A (p.Arg52Gln)	EPHX2 (R52Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 779344	NM_001979.6(EPHX2):c.63C>A (p.Gly21=)	EPHX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 776302	NM_001979.6(EPHX2):c.946-5C>T	EPHX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 751925	NM_001979.6(EPHX2):c.1251A>G (p.Leu417=)	EPHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic

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