3402[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 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 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	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 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	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 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 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 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 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 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 16603	NM_001979.6(EPHX2):c.860G>A (p.Arg287Gln)	EPHX2 (R287Q +2 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	Grisk factor
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 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 776302	NM_001979.6(EPHX2):c.946-5C>T	EPHX2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 3060428	NM_001979.6(EPHX2):c.1236C>T (p.Ser412=)	EPHX2	Single nucleotide variant (synonymous variant +1 more)	EPHX2-related disorder	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 3055553	NM_001979.6(EPHX2):c.1275G>A (p.Ala425=)	EPHX2	Single nucleotide variant (synonymous variant +1 more)	EPHX2-related disorder	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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

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