"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CNOT1"[gen - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2065312	NM_016284.5(CNOT1):c.7008G>A (p.Lys2336=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1675626	NM_016284.5(CNOT1):c.6647A>G (p.Asn2216Ser)	CNOT1 (N2211S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646571	NM_016284.5(CNOT1):c.6625C>T (p.Arg2209Cys)	CNOT1 (R2204C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646572	NM_016284.5(CNOT1):c.6429C>T (p.Pro2143=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646573	NM_016284.5(CNOT1):c.6164C>T (p.Thr2055Met)	CNOT1 (T2050M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570944	NM_016284.5(CNOT1):c.6005A>G (p.Asn2002Ser)	CNOT1 (N1997S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2189249	NM_016284.5(CNOT1):c.5610C>T (p.Arg1870=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646574	NM_016284.5(CNOT1):c.5586C>G (p.Leu1862=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1978331	NM_016284.5(CNOT1):c.5241G>A (p.Ala1747=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672637	NM_016284.5(CNOT1):c.4864C>T (p.His1622Tyr)	CNOT1 (H1617Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 771017	NM_016284.5(CNOT1):c.4439C>T (p.Ala1480Val)	CNOT1 (A1480V +1 more)	Single nucleotide variant (missense variant +1 more)	CNOT1-related disorder +2 more	GBenign/Likely benign
Select item 2646575	NM_016284.5(CNOT1):c.4434+196C>T	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646576	NM_016284.5(CNOT1):c.4434+194_4434+195del	CNOT1 (F1543fs)	Deletion (frameshift variant +1 more)	CNOT1-related disorder +1 more	GBenign/Likely benign
Select item 2672638	NM_016284.5(CNOT1):c.4434+1del	CNOT1	Deletion (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2646577	NM_016284.5(CNOT1):c.4154C>T (p.Ala1385Val)	CNOT1 (A1380V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1335214	NM_016284.5(CNOT1):c.4141C>G (p.Pro1381Ala)	CNOT1 (P1376A +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome +1 more	GUncertain significance
Select item 2672639	NM_016284.5(CNOT1):c.3984A>G (p.Glu1328=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646578	NM_016284.5(CNOT1):c.3474T>C (p.Asn1158=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026982	NM_016284.5(CNOT1):c.3292A>C (p.Lys1098Gln)	CNOT1 (K1093Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672640	NM_016284.5(CNOT1):c.2903A>G (p.Tyr968Cys)	CNOT1 (Y963C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2053931	NM_016284.5(CNOT1):c.2480-5A>G	CNOT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3026878	NM_016284.5(CNOT1):c.2477C>T (p.Pro826Leu)	CNOT1 (P826L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646579	NM_016284.5(CNOT1):c.2463G>T (p.Gln821His)	CNOT1 (Q821H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026560	NM_016284.5(CNOT1):c.1792G>C (p.Asp598His)	CNOT1 (D598H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498667	NM_016284.5(CNOT1):c.1654T>C (p.Tyr552His)	CNOT1 (Y552H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646580	NM_016284.5(CNOT1):c.858A>T (p.Thr286=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646581	NM_016284.5(CNOT1):c.669C>T (p.Leu223=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3027340	NM_016284.5(CNOT1):c.613G>A (p.Ala205Thr)	CNOT1 (A205T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646582	NM_016284.5(CNOT1):c.480C>T (p.Tyr160=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2075380	NM_016284.5(CNOT1):c.432C>T (p.Phe144=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign

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Items: 30