ClinVar for Gene (Select 157574) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278094	NM_172366.4(FBXO16):c.662C>A (p.Ser221Tyr)	FBXO16 (S209Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234525	NM_172366.4(FBXO16):c.321G>A (p.Arg107=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234524	NM_172366.4(FBXO16):c.333T>C (p.Arg111=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234390	NM_172366.4(FBXO16):c.198G>C (p.Ser66=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234307	NM_172366.4(FBXO16):c.60C>T (p.Ser20=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234306	NM_172366.4(FBXO16):c.87A>T (p.Leu29=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234305	NM_172366.4(FBXO16):c.234A>G (p.Gln78=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234304	NM_172366.4(FBXO16):c.255C>T (p.Ala85=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234303	NM_172366.4(FBXO16):c.261C>T (p.Asp87=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234302	NM_172366.4(FBXO16):c.267A>G (p.Thr89=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234301	NM_172366.4(FBXO16):c.276T>C (p.Leu92=)	FBXO16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3093599	NM_172366.4(FBXO16):c.647T>G (p.Leu216Arg)	FBXO16 (L204R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093598	NM_172366.4(FBXO16):c.351G>T (p.Trp117Cys)	FBXO16 (W117C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093597	NM_172366.4(FBXO16):c.34G>A (p.Gly12Ser)	FBXO16 (G12S)	Single nucleotide variant (missense variant)	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 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 2592342	NM_172366.4(FBXO16):c.622A>G (p.Lys208Glu)	FBXO16 (K196E +1 more)	Single nucleotide variant (missense variant)	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 2558891	NM_172366.4(FBXO16):c.503C>T (p.Pro168Leu)	FBXO16 (P156L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556354	NM_172366.4(FBXO16):c.121C>A (p.Leu41Met)	FBXO16 (L41M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519732	NM_172366.4(FBXO16):c.789T>A (p.His263Gln)	FBXO16 (H263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514512	NM_172366.4(FBXO16):c.97C>T (p.Arg33Trp)	FBXO16 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493539	NM_172366.4(FBXO16):c.283G>C (p.Val95Leu)	FBXO16 (V95L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489498	NM_172366.4(FBXO16):c.841A>G (p.Met281Val)	FBXO16 (M269V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395322	NM_172366.4(FBXO16):c.422A>G (p.Asn141Ser)	FBXO16 (N129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275977	NM_172366.4(FBXO16):c.282G>T (p.Arg94Ser)	FBXO16 (R82S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273139	NM_172366.4(FBXO16):c.511C>A (p.Pro171Thr)	FBXO16 (P159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262169	NM_172366.4(FBXO16):c.298A>G (p.Ile100Val)	FBXO16 (I100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241144	NM_172366.4(FBXO16):c.223C>G (p.Arg75Gly)	FBXO16 (R75G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217479	NM_172366.4(FBXO16):c.757C>G (p.Gln253Glu)	FBXO16 (Q241E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 815116	GRCh37/hg19 8p21.1(chr8:28319751-28544638)x1	FBXO16, FZD3	Copy number loss	not provided	GUncertain significance
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 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	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 442524	GRCh37/hg19 8p21.1-12(chr8:27501662-29342607)x3	CCDC25, DUSP4 +14 more	Copy number gain	See cases	GUncertain significance
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 395101	GRCh37/hg19 8p21.1(chr8:28236568-28385305)x3	FBXO16, FZD3 +1 more	Copy number gain	See cases	GUncertain significance
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 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
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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	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 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 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 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 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 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	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 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 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 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	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 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 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 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	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 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	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 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 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 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic

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