CNOT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 59992	GRCh38/hg38 16q21(chr16:58082578-58578082)x3	CCDC113, CFAP20 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 1289270	NM_016284.5(CNOT1):c.*82G>A	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3364592	NM_016284.5(CNOT1):c.7121G>C (p.Gly2374Ala)	CNOT1, SETD6 (G2369A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1974209	NM_016284.5(CNOT1):c.7089G>A (p.Gln2363=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2191274	NM_016284.5(CNOT1):c.7068C>T (p.Val2356=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1973114	NM_016284.5(CNOT1):c.7047C>T (p.Ile2349=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2758049	NM_016284.5(CNOT1):c.7020T>A (p.His2340Gln)	CNOT1, SETD6 (H2335Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2065312	NM_016284.5(CNOT1):c.7008G>A (p.Lys2336=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3363233	NM_016284.5(CNOT1):c.6983A>G (p.Glu2328Gly)	CNOT1, SETD6 (E2323G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2446155	NM_016284.5(CNOT1):c.6968TTA[1] (p.Ile2324del)	CNOT1, SETD6 (I2319del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2505815	NM_016284.5(CNOT1):c.6970A>C (p.Ile2324Leu)	CNOT1, SETD6 (I2319L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1703926	NM_016284.5(CNOT1):c.6965T>G (p.Leu2322Arg)	CNOT1, SETD6 (L2317R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3253254	NM_016284.5(CNOT1):c.6964C>G (p.Leu2322Val)	CNOT1, SETD6 (L2317V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2028858	NM_016284.5(CNOT1):c.6918-16T>G	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1277952	NM_016284.5(CNOT1):c.6917+64dup	CNOT1, SETD6	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2070562	NM_016284.5(CNOT1):c.6917+7G>A	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2176286	NM_016284.5(CNOT1):c.6891G>C (p.Thr2297=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1801072	NM_016284.5(CNOT1):c.6853A>G (p.Ser2285Gly)	CNOT1, SETD6 (S2280G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2040651	NM_016284.5(CNOT1):c.6852C>T (p.Phe2284=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1569231	NM_016284.5(CNOT1):c.6849C>T (p.Tyr2283=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2389226	NM_016284.5(CNOT1):c.6819G>C (p.Gln2273His)	CNOT1, SETD6 (Q2268H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3017281	NM_016284.5(CNOT1):c.6791A>C (p.Tyr2264Ser)	CNOT1, SETD6 (Y2264S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2104185	NM_016284.5(CNOT1):c.6785-8del	CNOT1, SETD6	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1226579	NM_016284.5(CNOT1):c.6784+94G>A	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971099	NM_016284.5(CNOT1):c.6784+11C>T	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2001866	NM_016284.5(CNOT1):c.6781G>A (p.Glu2261Lys)	CNOT1 (E2261K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703358	NM_016284.5(CNOT1):c.6715A>T (p.Met2239Leu)	CNOT1 (M2234L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107828	NM_016284.5(CNOT1):c.6705C>T (p.Ser2235=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620124	NM_016284.5(CNOT1):c.6695A>G (p.Asn2232Ser)	CNOT1 (N2227S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3363783	NM_016284.5(CNOT1):c.6685C>T (p.His2229Tyr)	CNOT1 (H2224Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174122	NM_016284.5(CNOT1):c.6683C>T (p.Ala2228Val)	CNOT1 (A2223V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114188	NM_016284.5(CNOT1):c.6675G>A (p.Gln2225=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3036676	NM_016284.5(CNOT1):c.6673C>G (p.Gln2225Glu)	CNOT1 (Q2220E +1 more)	Single nucleotide variant (missense variant +1 more)	CNOT1-related disorder	GUncertain significance
Select item 1675626	NM_016284.5(CNOT1):c.6647A>G (p.Asn2216Ser)	CNOT1 (N2211S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3345300	NM_016284.5(CNOT1):c.6637C>T (p.Gln2213Ter)	CNOT1 (Q2208* +1 more)	Single nucleotide variant (nonsense +1 more)	CNOT1-related disorder	GLikely pathogenic
Select item 2780547	NM_016284.5(CNOT1):c.6632A>G (p.Asn2211Ser)	CNOT1 (N2206S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688800	NM_016284.5(CNOT1):c.6632A>C (p.Asn2211Thr)	CNOT1 (N2206T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646571	NM_016284.5(CNOT1):c.6625C>T (p.Arg2209Cys)	CNOT1 (R2204C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364759	NM_016284.5(CNOT1):c.6611A>T (p.Asn2204Ile)	CNOT1 (N2199I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041463	NM_016284.5(CNOT1):c.6611A>G (p.Asn2204Ser)	CNOT1 (N2199S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3358781	NM_016284.5(CNOT1):c.6610A>G (p.Asn2204Asp)	CNOT1 (N2199D +1 more)	Single nucleotide variant (missense variant +1 more)	CNOT1-related disorder	GUncertain significance
Select item 1239665	NM_016284.5(CNOT1):c.6604-151G>A	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258014	NM_016284.5(CNOT1):c.6604-204dup	CNOT1	Duplication (intron variant)	not provided	GBenign
Select item 1973482	NM_016284.5(CNOT1):c.6603+18A>C	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106020	NM_016284.5(CNOT1):c.6603+17T>A	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3242137	NM_016284.5(CNOT1):c.6603+3T>A	CNOT1	Single nucleotide variant (intron variant)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3146591	NM_016284.5(CNOT1):c.6597C>A (p.Asn2199Lys)	CNOT1 (N2199K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3364649	NM_016284.5(CNOT1):c.6576C>G (p.Phe2192Leu)	CNOT1 (F2187L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722914	NM_016284.5(CNOT1):c.6576C>T (p.Phe2192=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2282798	NM_016284.5(CNOT1):c.6557C>G (p.Thr2186Ser)	CNOT1 (T2181S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2102086	NM_016284.5(CNOT1):c.6549T>C (p.Tyr2183=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2733853	NM_016284.5(CNOT1):c.6546C>T (p.Ser2182=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065708	NM_016284.5(CNOT1):c.6525G>A (p.Gln2175=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3146590	NM_016284.5(CNOT1):c.6520C>T (p.Pro2174Ser)	CNOT1 (P2174S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1998064	NM_016284.5(CNOT1):c.6467G>A (p.Ser2156Asn)	CNOT1 (S2151N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695496	NM_016284.5(CNOT1):c.6454-9C>G	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283532	NM_016284.5(CNOT1):c.6454-163C>G	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971501	NM_016284.5(CNOT1):c.6453+19A>T	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1972109	NM_016284.5(CNOT1):c.6453+12A>G	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2646572	NM_016284.5(CNOT1):c.6429C>T (p.Pro2143=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3365674	NM_016284.5(CNOT1):c.6428C>G (p.Pro2143Arg)	CNOT1 (P2138R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309877	NM_016284.5(CNOT1):c.6427C>T (p.Pro2143Ser)	CNOT1 (P2138S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038059	NM_016284.5(CNOT1):c.6422G>A (p.Arg2141Lys)	CNOT1 (R2136K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413974	NM_016284.5(CNOT1):c.6405C>T (p.Ala2135=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2695497	NM_016284.5(CNOT1):c.6381G>A (p.Gln2127=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689631	NM_016284.5(CNOT1):c.6344A>G (p.Tyr2115Cys)	CNOT1 (Y2110C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806731	NM_016284.5(CNOT1):c.6289A>G (p.Arg2097Gly)	CNOT1 (R2092G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1972303	NM_016284.5(CNOT1):c.6279+19T>C	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975690	NM_016284.5(CNOT1):c.6279+11del	CNOT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2049072	NM_016284.5(CNOT1):c.6228G>A (p.Ala2076=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1343213	NM_016284.5(CNOT1):c.6196delinsAA (p.Gln2066fs)	CNOT1 (Q2061fs +1 more)	Indel (frameshift variant +1 more)	Vissers-Bodmer syndrome	GLikely pathogenic
Select item 1700080	NM_016284.5(CNOT1):c.6178-2A>G	CNOT1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 2083907	NM_016284.5(CNOT1):c.6178-14TTTC[2]	CNOT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1992687	NM_016284.5(CNOT1):c.6178-7C>T	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108002	NM_016284.5(CNOT1):c.6178-11C>A	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974425	NM_016284.5(CNOT1):c.6178-16C>T	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2025890	NM_016284.5(CNOT1):c.6178-17A>G	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045542	NM_016284.5(CNOT1):c.6177+11A>G	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008424	NM_016284.5(CNOT1):c.6177+8T>G	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880440	NM_016284.5(CNOT1):c.6168A>G (p.Pro2056=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906836	NM_016284.5(CNOT1):c.6165G>C (p.Thr2055=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646573	NM_016284.5(CNOT1):c.6164C>T (p.Thr2055Met)	CNOT1 (T2050M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1329666	NM_016284.5(CNOT1):c.6133C>T (p.Arg2045Trp)	CNOT1 (R2040W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2752089	NM_016284.5(CNOT1):c.6115C>A (p.Leu2039Ile)	CNOT1 (L2034I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1895722	NM_016284.5(CNOT1):c.6111C>T (p.Ala2037=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1658832	NM_016284.5(CNOT1):c.6059+17C>T	CNOT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974211	NM_016284.5(CNOT1):c.6059+8T>C	CNOT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195433	NM_016284.5(CNOT1):c.6047_6050del (p.Leu2016fs)	CNOT1 (L2011fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1928202	NM_016284.5(CNOT1):c.6006T>C (p.Asn2002=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2570944	NM_016284.5(CNOT1):c.6005A>G (p.Asn2002Ser)	CNOT1 (N1997S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2375916	NM_016284.5(CNOT1):c.5942G>A (p.Arg1981His)	CNOT1 (R1976H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2501873	NM_016284.5(CNOT1):c.5933A>G (p.His1978Arg)	CNOT1 (H1973R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804580	NM_016284.5(CNOT1):c.5922_5924del (p.Leu1975del)	CNOT1 (L1970del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2229663	NM_016284.5(CNOT1):c.5912T>C (p.Val1971Ala)	CNOT1 (V1966A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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