CNOT7[gene] - ClinVar

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Items: 95

	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 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	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 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 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 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 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 3146638	NM_013354.7(CNOT7):c.830A>G (p.Tyr277Cys)	CNOT7 (Y196C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332331	NM_013354.7(CNOT7):c.523C>T (p.Pro175Ser)	CNOT7 (P197S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615724	NM_013354.7(CNOT7):c.170A>G (p.Asn57Ser)	CNOT7 (N57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268232	NM_013354.7(CNOT7):c.88G>A (p.Val30Ile)	CNOT7 (V30I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291464	NM_013354.7(CNOT7):c.19G>T (p.Asp7Tyr)	CNOT7 (D7Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412376	NM_013354.7(CNOT7):c.14C>T (p.Thr5Ile)	CNOT7 (T5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1219001	NC_000008.11:g.17246633C>G	CNOT7, VPS37A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671125	NM_152415.2(VPS37A):c.-566G>A	CNOT7, VPS37A	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 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	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 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 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 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	CNOT7, CSGALNACT1 +21 more	Duplication	Hereditary spastic paraplegia 53	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 980307	GRCh37/hg19 8p22(chr8:17074039-17274709)x1	CNOT7, MTMR7 +2 more	Copy number loss	not provided	GUncertain significance
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 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	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +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	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 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	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 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	SCRT1, SCX +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	AGPAT5, ANGPT2 +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

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Items: 95