ClinVar for Gene (Select 4848) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3494479	NM_014515.7(CNOT2):c.706C>G (p.Arg236Gly)	CNOT2 (R227G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3494478	NM_014515.7(CNOT2):c.1418A>G (p.Lys473Arg)	CNOT2 (K459R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3494477	NM_014515.7(CNOT2):c.850C>T (p.Pro284Ser)	CNOT2 (P270S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3390749	NM_014515.7(CNOT2):c.1478C>T (p.Thr493Ile)	CNOT2 (T432I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3383838	NM_014515.7(CNOT2):c.1574C>T (p.Pro525Leu)	CNOT2 (P464L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373462	NM_014515.7(CNOT2):c.49-2A>C	CNOT2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 3373099	NM_014515.7(CNOT2):c.1214C>T (p.Ser405Phe)	CNOT2 (S344F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369381	NM_014515.7(CNOT2):c.203_211delinsACCATCTACA (p.Leu68fs)	CNOT2 (L27fs +3 more)	Indel (frameshift variant +2 more)	not provided	GPathogenic
Select item 3362073	NM_014515.7(CNOT2):c.7A>G (p.Arg3Gly)	CNOT2 (R3G)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3359569	NM_014515.7(CNOT2):c.1211C>A (p.Ala404Glu)	CNOT2 (A343E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357651	NM_014515.7(CNOT2):c.269G>A (p.Ser90Asn)	CNOT2 (S49N +4 more)	Single nucleotide variant (missense variant +1 more)	CNOT2-related disorder	GUncertain significance
Select item 3343663	NM_014515.7(CNOT2):c.583G>A (p.Gly195Arg)	CNOT2 (G134R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338647	NM_014515.7(CNOT2):c.1369del (p.Gln457fs)	CNOT2 (Q396fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	GLikely pathogenic
Select item 3268208	NM_014515.7(CNOT2):c.446T>C (p.Ile149Thr)	CNOT2 (I108T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3268207	NM_014515.7(CNOT2):c.711C>G (p.Asn237Lys)	CNOT2 (N196K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268206	NM_014515.7(CNOT2):c.1343A>G (p.Tyr448Cys)	CNOT2 (Y434C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268205	NM_014515.7(CNOT2):c.328G>A (p.Val110Ile)	CNOT2 (V110I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255120	NM_014515.7(CNOT2):c.1232A>G (p.Gln411Arg)	CNOT2 (Q350R +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	GUncertain significance
Select item 3250774	NM_014515.7(CNOT2):c.1179-3C>T	CNOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3146609	NM_014515.7(CNOT2):c.928T>G (p.Ser310Ala)	CNOT2 (S290A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146608	NM_014515.7(CNOT2):c.750C>A (p.Asn250Lys)	CNOT2 (N230K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146607	NM_014515.7(CNOT2):c.683C>A (p.Ser228Ter)	CNOT2 (S187* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 3146606	NM_014515.7(CNOT2):c.253C>G (p.Pro85Ala)	CNOT2 (P65A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146605	NM_014515.7(CNOT2):c.158G>A (p.Arg53Gln)	CNOT2 (R33Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063251	GRCh37/hg19 12q15(chr12:70430549-70988542)x1	CNOT2, KCNMB4 +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 3058220	NM_014515.7(CNOT2):c.285G>A (p.Gln95=)	CNOT2	Single nucleotide variant (synonymous variant +1 more)	CNOT2-related disorder	GLikely benign
Select item 3025021	NM_014515.7(CNOT2):c.48+7C>T	CNOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2672511	NM_014515.7(CNOT2):c.145A>G (p.Met49Val)	CNOT2 (M29V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2662899	NM_014515.7(CNOT2):c.917G>T (p.Gly306Val)	CNOT2 (G245V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662035	NM_014515.7(CNOT2):c.335C>T (p.Pro112Leu)	CNOT2 (P103L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636366	NM_014515.7(CNOT2):c.40A>C (p.Asn14His)	CNOT2 (N14H)	Single nucleotide variant (missense variant +3 more)	CNOT2-related disorder	GUncertain significance
Select item 2510432	NM_014515.7(CNOT2):c.548G>A (p.Arg183Gln)	CNOT2 (R142Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2506620	NM_014515.7(CNOT2):c.758C>T (p.Ala253Val)	CNOT2 (A192V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440168	NM_014515.7(CNOT2):c.406C>T (p.Pro136Ser)	CNOT2 (P116S +4 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	GUncertain significance
Select item 2322579	NM_014515.7(CNOT2):c.1148C>A (p.Thr383Lys)	CNOT2 (T383K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321284	NM_014515.7(CNOT2):c.797C>G (p.Ala266Gly)	CNOT2 (A266G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233152	NM_014515.7(CNOT2):c.721G>A (p.Gly241Arg)	CNOT2 (G241R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209448	NM_014515.7(CNOT2):c.320C>T (p.Pro107Leu)	CNOT2 (P107L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805868	NM_014515.7(CNOT2):c.1481A>G (p.Tyr494Cys)	CNOT2 (Y494C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1696316	NM_014515.7(CNOT2):c.-9C>T	CNOT2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1686400	NM_014515.7(CNOT2):c.10_23del (p.Ter541=)	CNOT2	Deletion (no sequence alteration +1 more)	not specified	GLikely benign
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1298550	NM_014515.7(CNOT2):c.95G>A (p.Gly32Glu)	CNOT2 (G32E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 1064799	NM_014515.7(CNOT2):c.1621dup (p.Ter541LeuextTer?)	CNOT2	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1049790	NM_014515.7(CNOT2):c.710A>G (p.Asn237Ser)	CNOT2 (N237S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 815533	GRCh37/hg19 12q15-21.1(chr12:70403305-71510598)x1	PTPRR, PTPRB +2 more	Copy number loss	not provided	GUncertain significance
Select item 691600	NM_014515.7(CNOT2):c.946A>T (p.Lys316Ter)	CNOT2 (K316*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	GPathogenic
Select item 691599	NC_000012.11:g.70672317_70757341del	CNOT2	Deletion	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	GPathogenic
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394428	GRCh37/hg19 12q15(chr12:70588735-71366869)x1	CNOT2, KCNMB4 +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 157257	NM_014515.7(CNOT2):c.48+8340_48+9761del	CNOT2	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 157256	NM_014515.7(CNOT2):c.48+7810_48+9760del	CNOT2	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +164 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +126 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic
Select item 59023	GRCh38/hg38 12q15(chr12:70029314-70599455)x1	CNOT2, KCNMB4 +13 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	See cases	GPathogenic
Select item 57583	GRCh38/hg38 12q15-21.1(chr12:70051305-71116195)x1	LOC129390491, CNOT2 +17 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 65