CNOT3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 261

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 1683900	NM_014516.4(CNOT3):c.-50-9T>G	CNOT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1879454	NM_014516.4(CNOT3):c.-49G>A	CNOT3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1971441	NM_014516.4(CNOT3):c.25+4C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2867600	NM_014516.4(CNOT3):c.57C>T (p.Ser19=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526437	NM_014516.4(CNOT3):c.76dup (p.Glu26fs)	CNOT3 (E26fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 976757	NM_014516.4(CNOT3):c.93G>A (p.Lys31=)	CNOT3	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GLikely pathogenic
Select item 2650415	NM_014516.4(CNOT3):c.93+4C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971306	NM_014516.4(CNOT3):c.93+13A>G	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2441996	NM_014516.4(CNOT3):c.94-3C>G	CNOT3	Single nucleotide variant (intron variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 1879455	NM_014516.4(CNOT3):c.96C>T (p.Leu32=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970984	NM_014516.4(CNOT3):c.114G>A (p.Ala38=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2299965	NM_014516.4(CNOT3):c.137C>G (p.Ala46Gly)	CNOT3 (A46G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709920	NM_014516.4(CNOT3):c.145AAG[1] (p.Lys50del)	CNOT3 (K50del)	Microsatellite (inframe_deletion)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GLikely pathogenic
Select item 1709182	NM_014516.4(CNOT3):c.151_153del (p.Glu51del)	CNOT3 (E51del)	Deletion (inframe_deletion)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
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 2629348	NM_014516.4(CNOT3):c.169C>G (p.Arg57Gly)	CNOT3 (R57G)	Single nucleotide variant (missense variant)	CNOT3-related condition	GLikely pathogenic
Select item 972977	NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp)	CNOT3 (R57W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 2126337	NM_014516.4(CNOT3):c.174G>A (p.Leu58=)	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 +1 more	GLikely benign
Select item 1675759	NM_014516.4(CNOT3):c.207C>T (p.Asn69=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3026614	NM_014516.4(CNOT3):c.213C>A (p.Ile71=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713134	NM_014516.4(CNOT3):c.241C>A (p.Arg81Ser)	CNOT3 (R81S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GLikely pathogenic
Select item 1971308	NM_014516.4(CNOT3):c.258+18G>A	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2036199	NM_014516.4(CNOT3):c.259-18C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020778	NM_014516.4(CNOT3):c.311G>A (p.Ser104Asn)	CNOT3 (S104N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1971464	NM_014516.4(CNOT3):c.387+9G>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1973000	NM_014516.4(CNOT3):c.388-13C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688803	NM_014516.4(CNOT3):c.388-6C>T	CNOT3	Single nucleotide variant (intron variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2880494	NM_014516.4(CNOT3):c.396C>T (p.Ile132=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976522	NM_014516.4(CNOT3):c.417G>A (p.Val139=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630442	NM_014516.4(CNOT3):c.428A>C (p.Glu143Ala)	CNOT3 (E143A)	Single nucleotide variant (missense variant)	CNOT3-related condition	GUncertain significance
Select item 2319483	NM_014516.4(CNOT3):c.436G>T (p.Val146Leu)	CNOT3 (V146L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032591	NM_014516.4(CNOT3):c.438G>A (p.Val146=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related condition	GLikely benign
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 1972491	NM_014516.4(CNOT3):c.474C>T (p.Gly158=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2429930	NM_014516.4(CNOT3):c.483+5G>A	CNOT3	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely benign
Select item 2869648	NM_014516.4(CNOT3):c.483+17C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2778488	NM_014516.4(CNOT3):c.484-19G>A	CNOT3	Single nucleotide variant (intron 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 1978507	NM_014516.4(CNOT3):c.489G>A (p.Gln163=)	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 2650416	NM_014516.4(CNOT3):c.519C>T (p.Ile173=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984980	NM_014516.4(CNOT3):c.520G>A (p.Glu174Lys)	CNOT3 (E174K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GLikely pathogenic
Select item 3042948	NM_014516.4(CNOT3):c.537C>T (p.His179=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related condition	GLikely benign
Select item 2623641	NM_014516.4(CNOT3):c.544A>G (p.Met182Val)	CNOT3 (M182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480420	NM_014516.4(CNOT3):c.557T>C (p.Ile186Thr)	CNOT3 (I186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306777	NM_014516.4(CNOT3):c.559C>G (p.Leu187Val)	CNOT3 (L187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110632	NM_014516.4(CNOT3):c.561G>C (p.Leu187=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285430	NM_014516.4(CNOT3):c.563G>A (p.Arg188His)	CNOT3 (R188H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GLikely pathogenic
Select item 2572243	NM_014516.4(CNOT3):c.566del (p.Met189fs)	CNOT3 (M189fs)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 1319783	NM_014516.4(CNOT3):c.575A>G (p.Asn192Ser)	CNOT3 (N192S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1971115	NM_014516.4(CNOT3):c.594C>T (p.Asp198=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1319782	NM_014516.4(CNOT3):c.602G>A (p.Arg201His)	CNOT3 (R201H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982184	NM_014516.4(CNOT3):c.643C>T (p.Gln215Ter)	CNOT3 (Q215*)	Single nucleotide variant (nonsense)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 2864774	NM_014516.4(CNOT3):c.651C>T (p.Pro217=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1971356	NM_014516.4(CNOT3):c.657C>T (p.Phe219=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2663952	NM_014516.4(CNOT3):c.658G>A (p.Glu220Lys)	CNOT3 (E220K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2582157	NM_014516.4(CNOT3):c.672T>G (p.Phe224Leu)	CNOT3 (F224L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976242	NM_014516.4(CNOT3):c.693C>T (p.Leu231=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1971119	NM_014516.4(CNOT3):c.703+16T>C	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1586954	NM_014516.4(CNOT3):c.703+18A>G	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2788637	NM_014516.4(CNOT3):c.703+20del	CNOT3	Deletion (intron variant)	not provided	GLikely benign
Select item 1971222	NM_014516.4(CNOT3):c.703+20C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2006538	NM_014516.4(CNOT3):c.704-8C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781357	NM_014516.4(CNOT3):c.704-5C>A	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 975369	NM_014516.4(CNOT3):c.710C>T (p.Ala237Val)	CNOT3 (A237V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977851	NM_014516.4(CNOT3):c.711G>A (p.Ala237=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694669	NM_014516.4(CNOT3):c.732dup (p.Ser245fs)	CNOT3 (S245fs)	Indel (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +1 more	GConflicting classifications of pathogenicity
Select item 808649	NM_014516.4(CNOT3):c.732del (p.Ser245fs)	CNOT3 (S245fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1970985	NM_014516.4(CNOT3):c.726C>A (p.Ser242=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1971525	NM_014516.4(CNOT3):c.729C>T (p.Pro243=)	CNOT3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1598852	NM_014516.4(CNOT3):c.729= (p.Pro243=)	CNOT3	Variation (no sequence alteration)	not provided	GBenign
Select item 1972133	NM_014516.4(CNOT3):c.730C>G (p.Pro244Ala)	CNOT3 (P244A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2127996	NM_014516.4(CNOT3):c.731C>T (p.Pro244Leu)	CNOT3 (P244L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687219	NM_014516.4(CNOT3):c.734GCCACA[3] (p.245SH[3])	CNOT3	Microsatellite (inframe_insertion)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2025305	NM_014516.4(CNOT3):c.732C>A (p.Pro244=)	CNOT3	Single nucleotide variant (synonymous 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 1700931	NM_014516.4(CNOT3):c.794C>T (p.Thr265Ile)	CNOT3 (T265I)	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 2577980	NM_014516.4(CNOT3):c.821_825dup (p.Asn276fs)	CNOT3 (N276fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3045853	NM_014516.4(CNOT3):c.819C>T (p.Ser273=)	CNOT3	Single nucleotide variant (synonymous variant)	CNOT3-related condition	GLikely benign
Select item 2092639	NM_014516.4(CNOT3):c.836C>T (p.Thr279Met)	CNOT3 (T279M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871128	NM_014516.4(CNOT3):c.837+13G>A	CNOT3	Single nucleotide variant (intron 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 3026711	NM_014516.4(CNOT3):c.872C>A (p.Ser291Tyr)	CNOT3 (S291Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031034	NM_014516.4(CNOT3):c.882T>G (p.Ser294Arg)	CNOT3 (S294R)	Single nucleotide variant (missense variant)	CNOT3-related condition	GUncertain significance
Select item 2868457	NM_014516.4(CNOT3):c.894+19C>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2114597	NM_014516.4(CNOT3):c.895-6C>A	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971474	NM_014516.4(CNOT3):c.895-4G>T	CNOT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2230073	NM_014516.4(CNOT3):c.907A>C (p.Asn303His)	CNOT3 (N303H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808650	NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)	CNOT3 (G304S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3