Related gene-specific medical variations for Gene (Select 79165) - ClinVar - NCBI

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

Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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