ClinVar for Gene (Select 4849) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372733	NM_014516.4(CNOT3):c.868C>T (p.Arg290Cys)	CNOT3 (R290C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370621	NM_014516.4(CNOT3):c.628T>C (p.Tyr210His)	CNOT3 (Y210H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369981	NM_014516.4(CNOT3):c.407A>G (p.Asn136Ser)	CNOT3 (N136S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369510	NM_014516.4(CNOT3):c.644A>G (p.Gln215Arg)	CNOT3 (Q215R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368469	NM_014516.4(CNOT3):c.635A>C (p.Asp212Ala)	CNOT3 (D212A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368326	NM_014516.4(CNOT3):c.1966C>T (p.His656Tyr)	CNOT3 (H656Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368121	NM_014516.4(CNOT3):c.1735C>T (p.Pro579Ser)	CNOT3 (P579S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367453	NM_014516.4(CNOT3):c.206A>C (p.Asn69Thr)	CNOT3 (N69T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363696	NM_014516.4(CNOT3):c.2232C>A (p.Tyr744Ter)	CNOT3, LENG1 (Y744*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3362278	NM_014516.4(CNOT3):c.1994G>A (p.Arg665His)	CNOT3 (R665H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 3361636	NM_014516.4(CNOT3):c.1652C>A (p.Ala551Asp)	CNOT3 (A551D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360773	NM_014516.4(CNOT3):c.37C>T (p.Arg13Cys)	CNOT3 (R13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359637	NM_014516.4(CNOT3):c.629A>G (p.Tyr210Cys)	CNOT3 (Y210C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359063	NM_014516.4(CNOT3):c.26-7T>A	CNOT3	Single nucleotide variant (intron variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 3355782	NM_014516.4(CNOT3):c.242G>A (p.Arg81His)	CNOT3 (R81H)	Single nucleotide variant (missense variant)	CNOT3-related disorder	GUncertain significance
Select item 3350158	NM_014516.4(CNOT3):c.1406C>G (p.Ser469Trp)	CNOT3 (S469W)	Single nucleotide variant (missense variant)	CNOT3-related disorder	GUncertain significance
Select item 3347417	NM_014516.4(CNOT3):c.2014TTC[1] (p.Phe673del)	CNOT3 (F673del)	Microsatellite (inframe_deletion)	CNOT3-related disorder	GPathogenic
Select item 3343586	NM_014516.4(CNOT3):c.215A>G (p.Lys72Arg)	CNOT3 (K72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342970	NM_014516.4(CNOT3):c.1511C>T (p.Pro504Leu)	CNOT3 (P504L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342081	NM_014516.4(CNOT3):c.1597G>C (p.Glu533Gln)	CNOT3 (E533Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338993	NM_014516.4(CNOT3):c.1122T>C (p.Ala374=)	CNOT3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338643	Single allele	CNOT3, LENG1 +3 more	Deletion	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 3337924	NM_014516.4(CNOT3):c.529C>G (p.Arg177Gly)	CNOT3 (R177G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337923	NM_014516.4(CNOT3):c.26G>A (p.Gly9Asp)	CNOT3 (G9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268215	NM_014516.4(CNOT3):c.1385A>G (p.His462Arg)	CNOT3 (H462R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268214	NM_014516.4(CNOT3):c.1633T>G (p.Ser545Ala)	CNOT3 (S545A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268213	NM_014516.4(CNOT3):c.1970C>T (p.Ser657Leu)	CNOT3 (S657L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268211	NM_014516.4(CNOT3):c.1007C>A (p.Thr336Asn)	CNOT3 (T336N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268210	NM_014516.4(CNOT3):c.1153A>T (p.Thr385Ser)	CNOT3 (T385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268209	NM_014516.4(CNOT3):c.1811C>G (p.Pro604Arg)	CNOT3 (P604R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253301	NM_014516.4(CNOT3):c.403C>T (p.Leu135Phe)	CNOT3 (L135F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250592	NM_014516.4(CNOT3):c.1788G>A (p.Ser596=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250558	NM_014516.4(CNOT3):c.2127C>T (p.His709=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242700	NC_000019.9:g.(?_54621659)_(54797848_?)dup	CNOT3, LENG1 +9 more	Duplication	not provided	GUncertain significance
Select item 3242697	NC_000019.9:g.(?_54625219)_(54659145_?)del	CNOT3, PRPF31	Deletion	not provided	GPathogenic
Select item 3242695	NC_000019.9:g.(?_54621659)_(54659145_?)del	CNOT3, PRPF31	Deletion	not provided	GPathogenic
Select item 3242693	NC_000019.9:g.(?_54646715)_(54659145_?)dup	CNOT3	Duplication	not provided	GUncertain significance
Select item 3237487	NM_014516.4(CNOT3):c.1116C>G (p.Ala372=)	CNOT3	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 3234884	NM_014516.4(CNOT3):c.511C>T (p.Arg171Trp)	CNOT3 (R171W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 3234781	NM_014516.4(CNOT3):c.766C>T (p.Gln256Ter)	CNOT3 (Q256*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3146620	NM_014516.4(CNOT3):c.718G>A (p.Ala240Thr)	CNOT3 (A240T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146619	NM_014516.4(CNOT3):c.2249G>C (p.Arg750Pro)	CNOT3, LENG1 (R750P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146618	NM_014516.4(CNOT3):c.2037+3A>C	CNOT3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3146617	NM_014516.4(CNOT3):c.1861G>A (p.Ala621Thr)	CNOT3 (A621T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146616	NM_014516.4(CNOT3):c.1819C>G (p.Leu607Val)	CNOT3 (L607V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146615	NM_014516.4(CNOT3):c.1778T>A (p.Ile593Lys)	CNOT3 (I593K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146614	NM_014516.4(CNOT3):c.1748A>C (p.Gln583Pro)	CNOT3 (Q583P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146613	NM_014516.4(CNOT3):c.1568A>G (p.Asn523Ser)	CNOT3 (N523S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146612	NM_014516.4(CNOT3):c.1331G>C (p.Ser444Thr)	CNOT3 (S444T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146611	NM_014516.4(CNOT3):c.1081C>T (p.Pro361Ser)	CNOT3 (P361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146610	NM_014516.4(CNOT3):c.1013C>T (p.Pro338Leu)	CNOT3 (P338L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068457	NM_014516.4(CNOT3):c.461G>T (p.Arg154Leu)	CNOT3 (R154L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 3065994	NM_014516.4(CNOT3):c.1579C>T (p.Gln527Ter)	CNOT3 (Q527*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 3064115	NM_014516.4(CNOT3):c.1373dup (p.Ser459fs)	CNOT3 (S459fs)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 3061098	NM_014516.4(CNOT3):c.2164-9C>G	CNOT3, LENG1	Single nucleotide variant (3 prime UTR variant +1 more)	CNOT3-related disorder	GUncertain significance
Select item 3060910	NM_014516.4(CNOT3):c.1698C>G (p.Thr566=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related disorder	GLikely benign
Select item 3056712	NM_014516.4(CNOT3):c.*5G>A	CNOT3, LENG1	Single nucleotide variant (3 prime UTR variant)	CNOT3-related disorder	GLikely benign
Select item 3051327	NM_014516.4(CNOT3):c.1935G>A (p.Thr645=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related disorder	GLikely benign
Select item 3048634	NM_014516.4(CNOT3):c.1191AGGCGG[3] (p.Gly402_Ser403insGlyGly)	CNOT3	Microsatellite	CNOT3-related disorder	GBenign
Select item 3047501	NM_014516.4(CNOT3):c.2038-10C>T	CNOT3	Single nucleotide variant (intron variant)	CNOT3-related disorder	GLikely benign
Select item 3047066	NM_014516.4(CNOT3):c.1154C>T (p.Thr385Met)	CNOT3 (T385M)	Single nucleotide variant (missense variant)	CNOT3-related disorder	GLikely benign
Select item 3045853	NM_014516.4(CNOT3):c.819C>T (p.Ser273=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related disorder	GLikely benign
Select item 3042948	NM_014516.4(CNOT3):c.537C>T (p.His179=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related disorder	GLikely benign
Select item 3032591	NM_014516.4(CNOT3):c.438G>A (p.Val146=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related disorder	GLikely benign
Select item 3031034	NM_014516.4(CNOT3):c.882T>G (p.Ser294Arg)	CNOT3 (S294R)	Single nucleotide variant (missense variant)	CNOT3-related disorder	GUncertain significance
Select item 3026711	NM_014516.4(CNOT3):c.872C>A (p.Ser291Tyr)	CNOT3 (S291Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026614	NM_014516.4(CNOT3):c.213C>A (p.Ile71=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880494	NM_014516.4(CNOT3):c.396C>T (p.Ile132=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877541	NM_014516.4(CNOT3):c.484-8G>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2876114	NM_014516.4(CNOT3):c.2181T>C (p.Phe727=)	CNOT3, LENG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875170	NM_014516.4(CNOT3):c.1422G>A (p.Ala474=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872230	NM_014516.4(CNOT3):c.1464G>C (p.Gly488=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871128	NM_014516.4(CNOT3):c.837+13G>A	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870442	NM_014516.4(CNOT3):c.1606-15_1606-14del	CNOT3	Deletion (intron variant)	not provided	GLikely benign
Select item 2870427	NM_014516.4(CNOT3):c.2001G>A (p.Ser667=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870244	NM_014516.4(CNOT3):c.1434G>A (p.Thr478=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870109	NM_014516.4(CNOT3):c.1914C>T (p.Leu638=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869833	NM_014516.4(CNOT3):c.201G>A (p.Ala67=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869648	NM_014516.4(CNOT3):c.483+17C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2869322	NM_014516.4(CNOT3):c.983C>T (p.Pro328Leu)	CNOT3 (P328L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869214	NM_014516.4(CNOT3):c.1313C>T (p.Ala438Val)	CNOT3 (A438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869181	NM_014516.4(CNOT3):c.1473A>G (p.Ser491=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868997	NM_014516.4(CNOT3):c.1686G>A (p.Thr562=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868899	NM_014516.4(CNOT3):c.1064C>T (p.Pro355Leu)	CNOT3 (P355L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868739	NM_014516.4(CNOT3):c.1605+11C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868457	NM_014516.4(CNOT3):c.894+19C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868257	NM_014516.4(CNOT3):c.1283-17T>C	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867762	NM_014516.4(CNOT3):c.1605+15C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867720	NM_014516.4(CNOT3):c.780G>A (p.Thr260=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867662	NM_014516.4(CNOT3):c.512G>A (p.Arg171Gln)	CNOT3 (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867600	NM_014516.4(CNOT3):c.57C>T (p.Ser19=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867544	NM_014516.4(CNOT3):c.838-10C>G	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867480	NM_014516.4(CNOT3):c.1860C>T (p.Ala620=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867360	NM_014516.4(CNOT3):c.1905-9C>A	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864774	NM_014516.4(CNOT3):c.651C>T (p.Pro217=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2861292	NM_014516.4(CNOT3):c.1962C>T (p.Pro654=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2843911	NM_014516.4(CNOT3):c.153G>T (p.Glu51Asp)	CNOT3 (E51D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817290	NM_014516.4(CNOT3):c.800G>A (p.Ser267Asn)	CNOT3 (S267N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788637	NM_014516.4(CNOT3):c.703+20del	CNOT3	Deletion (intron variant)	not provided	GLikely benign
Select item 2782384	NM_014516.4(CNOT3):c.1932G>A (p.Pro644=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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