ClinVar for Gene (Select 286133) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316410	NM_173833.6(SCARA5):c.1169C>T (p.Pro390Leu)	SCARA5 (P347L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316409	NM_173833.6(SCARA5):c.391G>A (p.Ala131Thr)	SCARA5 (A88T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316408	NM_173833.6(SCARA5):c.1171A>G (p.Met391Val)	SCARA5 (M123V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316407	NM_173833.6(SCARA5):c.1372G>A (p.Asp458Asn)	SCARA5 (D190N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316406	NM_173833.6(SCARA5):c.553C>A (p.Leu185Ile)	SCARA5 (L142I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316404	NM_173833.6(SCARA5):c.512G>A (p.Arg171Gln)	SCARA5 (R128Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316403	NM_173833.6(SCARA5):c.433G>T (p.Ala145Ser)	SCARA5 (A102S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316402	NM_173833.6(SCARA5):c.130C>T (p.Arg44Trp)	SCARA5 (R44W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3316401	NM_173833.6(SCARA5):c.1411C>T (p.Arg471Cys)	SCARA5 (R428C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316400	NM_173833.6(SCARA5):c.131G>A (p.Arg44Gln)	SCARA5 (R44Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3158312	NM_173833.6(SCARA5):c.923C>T (p.Pro308Leu)	LOC105379342, SCARA5 (P265L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158311	NM_173833.6(SCARA5):c.788G>C (p.Arg263Pro)	SCARA5 (R263P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158310	NM_173833.6(SCARA5):c.674G>A (p.Gly225Asp)	SCARA5 (G225D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158309	NM_173833.6(SCARA5):c.567G>T (p.Gln189His)	SCARA5 (Q146H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158308	NM_173833.6(SCARA5):c.427G>A (p.Ala143Thr)	SCARA5 (A100T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158307	NM_173833.6(SCARA5):c.361C>A (p.Leu121Met)	SCARA5 (L121M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158306	NM_173833.6(SCARA5):c.289A>C (p.Asn97His)	SCARA5 (N54H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158305	NM_173833.6(SCARA5):c.1202C>T (p.Pro401Leu)	SCARA5 (P133L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158304	NM_173833.6(SCARA5):c.1048G>A (p.Asp350Asn)	LOC105379342, SCARA5 (D307N +2 more)	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 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 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2569834	NM_173833.6(SCARA5):c.778C>T (p.Arg260Cys)	SCARA5 (R217C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536225	NM_173833.6(SCARA5):c.830T>C (p.Leu277Pro)	SCARA5 (L234P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524719	NM_173833.6(SCARA5):c.443G>A (p.Arg148Gln)	SCARA5 (R105Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495617	NM_173833.6(SCARA5):c.46A>G (p.Thr16Ala)	SCARA5 (T16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486794	NM_173833.6(SCARA5):c.1082T>G (p.Met361Arg)	LOC105379342, SCARA5 (M93R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484977	NM_173833.6(SCARA5):c.1147G>A (p.Asp383Asn)	LOC105379342, SCARA5 (D115N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480395	NM_173833.6(SCARA5):c.746G>A (p.Arg249Gln)	SCARA5 (R206Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2474579	NM_173833.6(SCARA5):c.518G>A (p.Arg173His)	SCARA5 (R173H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468310	NM_173833.6(SCARA5):c.433G>A (p.Ala145Thr)	SCARA5 (A102T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462592	NM_173833.6(SCARA5):c.473C>A (p.Ala158Glu)	SCARA5 (A115E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403058	NM_173833.6(SCARA5):c.128G>A (p.Arg43Gln)	SCARA5 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399452	NM_173833.6(SCARA5):c.772G>A (p.Asp258Asn)	SCARA5 (D258N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378414	NM_173833.6(SCARA5):c.145T>C (p.Cys49Arg)	SCARA5 (C49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363225	NM_173833.6(SCARA5):c.8A>G (p.Asn3Ser)	SCARA5 (N3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361924	NM_173833.6(SCARA5):c.172C>G (p.Leu58Val)	SCARA5 (L58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351029	NM_173833.6(SCARA5):c.71T>C (p.Phe24Ser)	SCARA5 (F24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343091	NM_173833.6(SCARA5):c.487A>G (p.Thr163Ala)	SCARA5 (T163A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323047	NM_173833.6(SCARA5):c.602G>A (p.Arg201His)	SCARA5 (R201H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321510	NM_173833.6(SCARA5):c.1225T>C (p.Tyr409His)	SCARA5 (Y141H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319805	NM_173833.6(SCARA5):c.418C>A (p.Leu140Met)	SCARA5 (L140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319273	NM_173833.6(SCARA5):c.371A>G (p.Gln124Arg)	SCARA5 (Q124R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310078	NM_173833.6(SCARA5):c.1009G>A (p.Glu337Lys)	LOC105379342, SCARA5 (E294K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292110	NM_173833.6(SCARA5):c.287G>A (p.Arg96His)	SCARA5 (R96H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291580	NM_173833.6(SCARA5):c.13G>A (p.Ala5Thr)	SCARA5 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279523	NM_173833.6(SCARA5):c.31G>A (p.Val11Ile)	SCARA5 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271820	NM_173833.6(SCARA5):c.619G>A (p.Asp207Asn)	SCARA5 (D164N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256813	NM_173833.6(SCARA5):c.799G>A (p.Val267Ile)	SCARA5 (V224I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251850	NM_173833.6(SCARA5):c.224G>T (p.Gly75Val)	SCARA5 (G75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246454	NM_173833.6(SCARA5):c.229T>C (p.Phe77Leu)	SCARA5 (F77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234616	NM_173833.6(SCARA5):c.1006G>A (p.Gly336Arg)	LOC105379342, SCARA5 (G68R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226540	NM_173833.6(SCARA5):c.566A>G (p.Gln189Arg)	SCARA5 (Q146R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216927	NM_173833.6(SCARA5):c.365C>T (p.Thr122Met)	SCARA5 (T122M +1 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 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 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

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