CNOT10[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 3146596	NM_015442.3(CNOT10):c.29G>A (p.Gly10Glu)	CNOT10 (G70E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317700	NM_015442.3(CNOT10):c.300A>C (p.Glu100Asp)	CNOT10 (E100D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146597	NM_015442.3(CNOT10):c.352G>A (p.Val118Ile)	CNOT10 (V118I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356238	NM_015442.3(CNOT10):c.370C>T (p.Arg124Trp)	CNOT10 (R124W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271576	NM_015442.3(CNOT10):c.371G>A (p.Arg124Gln)	CNOT10 (R124Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549772	NM_015442.3(CNOT10):c.451G>A (p.Val151Met)	CNOT10 (V211M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146598	NM_015442.3(CNOT10):c.551A>G (p.Asn184Ser)	CNOT10 (N184S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353942	NM_015442.3(CNOT10):c.587A>G (p.Asn196Ser)	CNOT10 (N196S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317435	NM_015442.3(CNOT10):c.607C>T (p.His203Tyr)	CNOT10 (H263Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146599	NM_015442.3(CNOT10):c.649A>C (p.Lys217Gln)	CNOT10 (K217Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469069	NM_015442.3(CNOT10):c.652A>C (p.Ile218Leu)	CNOT10 (I218L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276139	NM_015442.3(CNOT10):c.674C>T (p.Ala225Val)	CNOT10 (A285V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242658	NM_015442.3(CNOT10):c.703T>C (p.Cys235Arg)	CNOT10 (C235R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268201	NM_015442.3(CNOT10):c.729G>A (p.Met243Ile)	CNOT10 (M303I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242350	NM_015442.3(CNOT10):c.749C>T (p.Ala250Val)	CNOT10 (A250V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544745	NM_015442.3(CNOT10):c.752C>T (p.Pro251Leu)	CNOT10 (P251L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369446	NM_015442.3(CNOT10):c.808G>A (p.Val270Met)	CNOT10 (V330M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146600	NM_015442.3(CNOT10):c.835G>A (p.Ala279Thr)	CNOT10 (A279T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268198	NM_015442.3(CNOT10):c.844C>T (p.Pro282Ser)	CNOT10 (P342S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206062	NM_015442.3(CNOT10):c.853A>G (p.Met285Val)	CNOT10 (M345V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593179	NM_015442.3(CNOT10):c.881T>C (p.Met294Thr)	CNOT10 (M294T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146601	NM_015442.3(CNOT10):c.944A>G (p.Tyr315Cys)	CNOT10 (Y315C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268200	NM_015442.3(CNOT10):c.955G>T (p.Ala319Ser)	CNOT10 (A319S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538962	NM_015442.3(CNOT10):c.1063T>G (p.Tyr355Asp)	CNOT10 (Y415D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268199	NM_015442.3(CNOT10):c.1082G>C (p.Cys361Ser)	CNOT10 (C361S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480358	NM_015442.3(CNOT10):c.1313A>G (p.Gln438Arg)	CNOT10, CNOT10-AS1 (Q498R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459904	NM_015442.3(CNOT10):c.1387A>G (p.Ile463Val)	CNOT10, CNOT10-AS1 (I523V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146592	NM_015442.3(CNOT10):c.1433A>T (p.Asp478Val)	CNOT10, CNOT10-AS1 (D478V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329544	NM_015442.3(CNOT10):c.1517G>T (p.Ser506Ile)	CNOT10, CNOT10-AS1 (S566I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383993	NM_015442.3(CNOT10):c.1543A>C (p.Ile515Leu)	CNOT10, CNOT10-AS1 (I514L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363308	NM_015442.3(CNOT10):c.1543A>G (p.Ile515Val)	CNOT10, CNOT10-AS1 (I575V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146593	NM_015442.3(CNOT10):c.1585G>A (p.Glu529Lys)	CNOT10 (E528K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268203	NM_015442.3(CNOT10):c.1682A>G (p.Gln561Arg)	CNOT10 (Q621R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146594	NM_015442.3(CNOT10):c.1999C>T (p.His667Tyr)	CNOT10 (H628Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512969	NM_015442.3(CNOT10):c.2006C>T (p.Ala669Val)	CNOT10 (A669V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306780	NM_015442.3(CNOT10):c.2116A>C (p.Asn706His)	CNOT10 (N705H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617471	NM_015442.3(CNOT10):c.2140A>T (p.Thr714Ser)	CNOT10 (T675S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274720	NM_015442.3(CNOT10):c.2150A>T (p.Glu717Val)	CNOT10 (E678V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146595	NM_015442.3(CNOT10):c.2192A>G (p.Gln731Arg)	CNOT10 (Q692R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685913	GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3	CCR4, CLASP2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527006	GRCh37/hg19 3p22.3(chr3:32699328-35286114)	CCR4, CLASP2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527005	GRCh37/hg19 3p23-22.3(chr3:31859973-33127072)	CCR4, CMTM6 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

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Items: 56