ClinVar for Gene (Select 51435) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316399	NM_016240.3(SCARA3):c.1135G>T (p.Asp379Tyr)	SCARA3 (D379Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316398	NM_016240.3(SCARA3):c.47C>T (p.Thr16Ile)	SCARA3 (T16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316397	NM_016240.3(SCARA3):c.694G>A (p.Glu232Lys)	SCARA3 (E232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316396	NM_016240.3(SCARA3):c.421A>G (p.Lys141Glu)	SCARA3 (K141E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316395	NM_016240.3(SCARA3):c.377G>A (p.Gly126Glu)	SCARA3 (G126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316394	NM_016240.3(SCARA3):c.14C>T (p.Ser5Leu)	SCARA3 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316393	NM_016240.3(SCARA3):c.596C>A (p.Thr199Lys)	SCARA3 (T199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158303	NM_016240.3(SCARA3):c.796C>T (p.Arg266Cys)	SCARA3 (R266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158302	NM_016240.3(SCARA3):c.609C>G (p.Asp203Glu)	SCARA3 (D203E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158301	NM_016240.3(SCARA3):c.166C>T (p.Arg56Trp)	SCARA3 (R56W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158300	NM_016240.3(SCARA3):c.1634C>T (p.Pro545Leu)	SCARA3 (P545L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158299	NM_016240.3(SCARA3):c.1427C>T (p.Pro476Leu)	SCARA3 (P476L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158298	NM_016240.3(SCARA3):c.1102G>A (p.Asp368Asn)	SCARA3 (D368N)	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 3048966	NM_182826.2(SCARA3):c.1388A>G (p.His463Arg)	SCARA3 (H463R)	Single nucleotide variant (missense variant)	not provided	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 2684535	GRCh37/hg19 8p21.1(chr8:27406843-27733562)x3	CCDC25, CLU +4 more	Copy number gain	not provided	GUncertain significance
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 2595811	NM_016240.3(SCARA3):c.253G>A (p.Glu85Lys)	SCARA3 (E85K)	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 2565033	NM_016240.3(SCARA3):c.337C>G (p.Leu113Val)	SCARA3 (L113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536306	NM_016240.3(SCARA3):c.1345C>T (p.Leu449Phe)	SCARA3 (L449F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526497	NM_016240.3(SCARA3):c.109C>T (p.Arg37Trp)	SCARA3 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520593	NM_016240.3(SCARA3):c.866G>A (p.Arg289His)	SCARA3 (R289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515507	NM_016240.3(SCARA3):c.1012C>T (p.Arg338Cys)	SCARA3 (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507853	NM_016240.3(SCARA3):c.359A>G (p.His120Arg)	SCARA3 (H120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486793	NM_016240.3(SCARA3):c.569C>T (p.Ala190Val)	SCARA3 (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462704	NM_016240.3(SCARA3):c.329C>T (p.Pro110Leu)	SCARA3 (P110L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457645	NM_016240.3(SCARA3):c.22G>A (p.Gly8Ser)	SCARA3 (G8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410781	NM_016240.3(SCARA3):c.1019T>C (p.Val340Ala)	SCARA3 (V340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410154	NM_016240.3(SCARA3):c.1568G>T (p.Gly523Val)	SCARA3 (G523V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406342	NM_016240.3(SCARA3):c.1435G>A (p.Gly479Ser)	SCARA3 (G479S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396393	NM_016240.3(SCARA3):c.69C>A (p.Asp23Glu)	SCARA3 (D23E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388156	NM_016240.3(SCARA3):c.673T>C (p.Phe225Leu)	SCARA3 (F225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386427	NM_016240.3(SCARA3):c.1045C>T (p.Arg349Cys)	SCARA3 (R349C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370867	NM_016240.3(SCARA3):c.1735A>G (p.Met579Val)	SCARA3 (M579V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370545	NM_016240.3(SCARA3):c.787A>G (p.Ser263Gly)	SCARA3 (S263G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358020	NM_016240.3(SCARA3):c.1078A>G (p.Ile360Val)	SCARA3 (I360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357862	NM_016240.3(SCARA3):c.1633C>A (p.Pro545Thr)	SCARA3 (P545T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349932	NM_016240.3(SCARA3):c.1501C>A (p.Pro501Thr)	SCARA3 (P501T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346446	NM_016240.3(SCARA3):c.790G>A (p.Gly264Ser)	SCARA3 (G264S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345071	NM_016240.3(SCARA3):c.83C>T (p.Pro28Leu)	SCARA3 (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338948	NM_016240.3(SCARA3):c.916G>C (p.Gly306Arg)	SCARA3 (G306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333419	NM_016240.3(SCARA3):c.122G>A (p.Arg41His)	SCARA3 (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306834	NM_016240.3(SCARA3):c.827T>C (p.Val276Ala)	SCARA3 (V276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297034	NM_016240.3(SCARA3):c.1051G>A (p.Ala351Thr)	SCARA3 (A351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292129	NM_016240.3(SCARA3):c.633G>C (p.Gln211His)	SCARA3 (Q211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269572	NM_016240.3(SCARA3):c.890T>C (p.Met297Thr)	SCARA3 (M297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252702	NM_016240.3(SCARA3):c.610C>T (p.Leu204Phe)	SCARA3 (L204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246909	NM_016240.3(SCARA3):c.436C>G (p.Gln146Glu)	SCARA3 (Q146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239317	NM_016240.3(SCARA3):c.43G>A (p.Val15Ile)	SCARA3 (V15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238775	NM_016240.3(SCARA3):c.1013G>A (p.Arg338His)	SCARA3 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206535	NM_016240.3(SCARA3):c.1666G>T (p.Gly556Trp)	SCARA3 (G556W)	Single nucleotide variant (missense variant +1 more)	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 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 980297	GRCh37/hg19 8p21.1(chr8:27417421-27643275)x3	CLU, CCDC25 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980296	GRCh37/hg19 8p21.1(chr8:27496253-27563222)x1	SCARA3	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 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

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