Related gene-specific medical variations for Gene (Select 4849) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3056712	NM_014516.4(CNOT3):c.*5G>A	CNOT3, LENG1	Single nucleotide variant (3 prime UTR variant)	CNOT3-related disorder	GLikely benign
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 2778680	NM_014516.4(CNOT3):c.2164-18G>A	CNOT3, LENG1	Single nucleotide variant (3 prime UTR variant +1 more)	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 2582515	NM_014516.4(CNOT3):c.913T>A (p.Ser305Thr)	CNOT3 (S305T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2576181	NM_014516.4(CNOT3):c.1094C>A (p.Ser365Ter)	CNOT3 (S365*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2573108	NM_014516.4(CNOT3):c.1155_1168dup (p.Pro390fs)	CNOT3 (P390fs)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 2504169	NM_014516.4(CNOT3):c.2209A>G (p.Lys737Glu)	CNOT3, LENG1 (K737E)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GLikely pathogenic
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 2441797	NM_014516.4(CNOT3):c.1754C>T (p.Pro585Leu)	CNOT3 (P585L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2440171	NM_014516.4(CNOT3):c.1085G>A (p.Ser362Asn)	CNOT3 (S362N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2440170	NM_014516.4(CNOT3):c.1151G>A (p.Ser384Asn)	CNOT3 (S384N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2440169	NM_014516.4(CNOT3):c.1358A>T (p.Gln453Leu)	CNOT3 (Q453L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 2429930	NM_014516.4(CNOT3):c.483+5G>A	CNOT3	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely benign
Select item 2125503	NM_014516.4(CNOT3):c.2169C>G (p.Thr723=)	CNOT3, LENG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1972124	NM_014516.4(CNOT3):c.2164-7C>T	CNOT3, LENG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1686738	NM_014516.4(CNOT3):c.2204G>A (p.Arg735Gln)	CNOT3, LENG1 (R735Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1319782	NM_014516.4(CNOT3):c.602G>A (p.Arg201His)	CNOT3 (R201H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184389	NM_014516.4(CNOT3):c.1424C>T (p.Ala475Val)	CNOT3 (A475V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GUncertain significance
Select item 975370	NM_014516.4(CNOT3):c.1200_1220del (p.Gly401_Gly407del)	CNOT3	Deletion (inframe_deletion)	Intellectual disability	GLikely benign

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Items: 26