ClinVar for Gene (Select 286097) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126338	NM_181723.3(MICU3):c.979G>C (p.Ala327Pro)	MICU3 (A314P +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126337	NM_181723.3(MICU3):c.434G>C (p.Arg145Pro)	MICU3 (R145P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3126336	NM_181723.3(MICU3):c.404T>C (p.Ile135Thr)	MICU3 (I135T)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3126335	NM_181723.3(MICU3):c.403A>G (p.Ile135Val)	MICU3 (I135V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3126334	NM_181723.3(MICU3):c.343G>A (p.Gly115Arg)	LOC129999927, MICU3 (G115R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126333	NM_181723.3(MICU3):c.334C>A (p.Arg112Ser)	LOC129999927, MICU3 (R112S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126332	NM_181723.3(MICU3):c.206T>G (p.Val69Gly)	LOC129999927, MICU3 (V69G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126331	NM_181723.3(MICU3):c.193G>T (p.Gly65Trp)	LOC129999927, MICU3 (G65W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126330	NM_181723.3(MICU3):c.1535C>T (p.Thr512Ile)	MICU3 (T389I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126329	NM_181723.3(MICU3):c.1487T>C (p.Ile496Thr)	MICU3 (I464T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126328	NM_181723.3(MICU3):c.1384G>A (p.Val462Ile)	MICU3 (V417I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126327	NM_181723.3(MICU3):c.1310A>G (p.Glu437Gly)	MICU3 (E314G +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126326	NM_181723.3(MICU3):c.1235G>A (p.Arg412His)	MICU3 (R236H +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126325	NM_181723.3(MICU3):c.122G>A (p.Arg41Gln)	LOC129999927, MICU3 (R41Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126324	NM_181723.3(MICU3):c.1087T>C (p.Phe363Leu)	MICU3 (F363L +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	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 2684530	GRCh37/hg19 8p22(chr8:16438155-17255355)x3	CNOT7, FGF20 +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	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2624286	NM_181723.3(MICU3):c.1223T>C (p.Leu408Ser)	MICU3 (L301S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2560238	NM_181723.3(MICU3):c.980C>T (p.Ala327Val)	MICU3 (A220V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557954	NM_181723.3(MICU3):c.929A>G (p.Tyr310Cys)	MICU3 (Y257C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556755	NM_181723.3(MICU3):c.863A>G (p.Tyr288Cys)	MICU3 (Y235C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536890	NM_181723.3(MICU3):c.586G>T (p.Ala196Ser)	MICU3 (A134S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2527263	NM_181723.3(MICU3):c.947G>A (p.Arg316His)	MICU3 (R140H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487898	NM_181723.3(MICU3):c.902A>T (p.Asp301Val)	MICU3 (D194V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483449	NM_181723.3(MICU3):c.698C>T (p.Pro233Leu)	MICU3 (P217L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466471	NM_181723.3(MICU3):c.1111G>A (p.Val371Ile)	MICU3 (V365I +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	not provided	GUncertain significance
Select item 2412380	NM_181723.3(MICU3):c.1055A>G (p.Lys352Arg)	MICU3 (K176R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402142	NM_181723.3(MICU3):c.647G>A (p.Gly216Asp)	MICU3 (G154D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400258	NM_181723.3(MICU3):c.1367A>C (p.Asp456Ala)	MICU3 (D394A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394434	NM_181723.3(MICU3):c.494C>T (p.Pro165Leu)	MICU3 (P165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392772	NM_181723.3(MICU3):c.154G>A (p.Ala52Thr)	LOC129999927, MICU3 (A52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385469	NM_181723.3(MICU3):c.259G>C (p.Gly87Arg)	LOC129999927, MICU3 (G87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366377	NM_181723.3(MICU3):c.378G>C (p.Glu126Asp)	MICU3 (E126D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358694	NM_181723.3(MICU3):c.290G>A (p.Gly97Glu)	LOC129999927, MICU3 (G97E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354096	NM_181723.3(MICU3):c.192G>C (p.Trp64Cys)	LOC129999927, MICU3 (W64C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302390	NM_181723.3(MICU3):c.370G>A (p.Ala124Thr)	MICU3 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286181	NM_181723.3(MICU3):c.956G>T (p.Ser319Ile)	MICU3 (S257I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260112	NM_181723.3(MICU3):c.946C>T (p.Arg316Cys)	MICU3 (R263C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243505	NM_181723.3(MICU3):c.933G>C (p.Trp311Cys)	MICU3 (W258C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221531	NM_181723.3(MICU3):c.377A>C (p.Glu126Ala)	MICU3 (E126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204483	NM_181723.3(MICU3):c.157G>A (p.Val53Met)	LOC129999927, MICU3 (V53M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203916	NM_181723.3(MICU3):c.196G>C (p.Glu66Gln)	LOC129999927, MICU3 (E66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808254	GRCh37/hg19 8p22(chr8:16623013-16998517)x1	FGF20, MICU3	Copy number loss	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +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	ASAH1-AS1, ASH2L +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 1527422	GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	ASAH1, ASAH1-AS1 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	ZDHHC2, ASAH1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +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 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687116	GRCh37/hg19 8p22(chr8:16403859-17275458)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686374	GRCh37/hg19 8p22(chr8:16438154-17251297)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance
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 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	ADAM28, ADAM7 +111 more	Copy number gain	not provided	GPathogenic
Select item 563424	GRCh37/hg19 8p22(chr8:16873493-16927378)x1	MICU3	Copy number loss	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	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	KCNQ3, KCNS2 +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 442555	GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	ASAH1, ASAH1-AS1 +27 more	Copy number gain	See cases	GLikely pathogenic
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	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 395097	GRCh37/hg19 8p22(chr8:16850757-17154332)x3	CNOT7, FGF20 +4 more	Copy number gain	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394721	GRCh37/hg19 8p22(chr8:16657256-17861898)x3	CNOT7, FGF20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	PPP1R3B, PRSS51 +86 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 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 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 154153	GRCh38/hg38 8p22(chr8:16765503-17140219)x1	FGF20, LOC126860308 +5 more	Copy number loss	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic

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