Related gene-specific medical variations for Gene (Select 23019) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382694	NM_016284.5(CNOT1):c.371_372dup (p.Gln125fs)	CNOT1 (Q125fs)	Duplication (frameshift variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +1 more	GPathogenic
Select item 3364592	NM_016284.5(CNOT1):c.7121G>C (p.Gly2374Ala)	CNOT1, SETD6 (G2369A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363233	NM_016284.5(CNOT1):c.6983A>G (p.Glu2328Gly)	CNOT1, SETD6 (E2323G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3361924	NM_016284.5(CNOT1):c.3937G>T (p.Asp1313Tyr)	CNOT1 (D1308Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361787	NM_016284.5(CNOT1):c.1310C>T (p.Pro437Leu)	CNOT1 (P437L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360731	NM_016284.5(CNOT1):c.6326T>C (p.Phe2109Ser)	CNOT1 (F2104S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359848	NM_016284.5(CNOT1):c.6403G>A (p.Ala2135Thr)	CNOT1 (A2130T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359666	NM_016284.5(CNOT1):c.2470A>G (p.Met824Val)	CNOT1 (M824V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253254	NM_016284.5(CNOT1):c.6964C>G (p.Leu2322Val)	CNOT1, SETD6 (L2317V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3065234	NM_016284.5(CNOT1):c.4882C>T (p.Pro1628Ser)	CNOT1 (P1623S +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3017281	NM_016284.5(CNOT1):c.6791A>C (p.Tyr2264Ser)	CNOT1, SETD6 (Y2264S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2758049	NM_016284.5(CNOT1):c.7020T>A (p.His2340Gln)	CNOT1, SETD6 (H2335Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2688801	NM_016284.5(CNOT1):c.1438T>C (p.Cys480Arg)	CNOT1 (C480R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688800	NM_016284.5(CNOT1):c.6632A>C (p.Asn2211Thr)	CNOT1 (N2206T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688798	NM_016284.5(CNOT1):c.4654C>T (p.Arg1552Trp)	CNOT1 (R1547W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580293	GRCh37/hg19 16q21(chr16:58587636-58610536)x1	CNOT1	Copy number loss	Vissers-Bodmer syndrome	GPathogenic
Select item 2505815	NM_016284.5(CNOT1):c.6970A>C (p.Ile2324Leu)	CNOT1, SETD6 (I2319L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2446155	NM_016284.5(CNOT1):c.6968TTA[1] (p.Ile2324del)	CNOT1, SETD6 (I2319del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2440167	NM_016284.5(CNOT1):c.5048G>A (p.Arg1683His)	CNOT1 (R1678H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440166	NM_016284.5(CNOT1):c.3083C>A (p.Ala1028Glu)	CNOT1 (A1023E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2389226	NM_016284.5(CNOT1):c.6819G>C (p.Gln2273His)	CNOT1, SETD6 (Q2268H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2191274	NM_016284.5(CNOT1):c.7068C>T (p.Val2356=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2176286	NM_016284.5(CNOT1):c.6891G>C (p.Thr2297=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2104185	NM_016284.5(CNOT1):c.6785-8del	CNOT1, SETD6	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2070562	NM_016284.5(CNOT1):c.6917+7G>A	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 2040651	NM_016284.5(CNOT1):c.6852C>T (p.Phe2284=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2028858	NM_016284.5(CNOT1):c.6918-16T>G	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1974209	NM_016284.5(CNOT1):c.7089G>A (p.Gln2363=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1973114	NM_016284.5(CNOT1):c.7047C>T (p.Ile2349=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1801072	NM_016284.5(CNOT1):c.6853A>G (p.Ser2285Gly)	CNOT1, SETD6 (S2280G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1703926	NM_016284.5(CNOT1):c.6965T>G (p.Leu2322Arg)	CNOT1, SETD6 (L2317R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1700194	NM_016284.5(CNOT1):c.4321G>A (p.Ala1441Thr)	CNOT1 (A1436T +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay	GPathogenic
Select item 1700187	NM_016284.5(CNOT1):c.3562G>T (p.Asp1188Tyr)	CNOT1 (D1183Y +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay	GPathogenic
Select item 1700080	NM_016284.5(CNOT1):c.6178-2A>G	CNOT1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696441	NM_016284.5(CNOT1):c.-175+5G>A	CNOT1	Single nucleotide variant (intron variant)	Holoprosencephaly 12 with or without pancreatic agenesis +1 more	GUncertain significance
Select item 1676436	NM_001265612.2(CNOT1):c.158C>T (p.Ser53Leu)	CNOT1 (S53L)	Single nucleotide variant	not provided	GUncertain significance
Select item 1569231	NM_016284.5(CNOT1):c.6849C>T (p.Tyr2283=)	CNOT1, SETD6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1289270	NM_016284.5(CNOT1):c.*82G>A	CNOT1, SETD6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1277952	NM_016284.5(CNOT1):c.6917+64dup	CNOT1, SETD6	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1027850	NM_016284.5(CNOT1):c.5342A>G (p.Glu1781Gly)	CNOT1 (E1781G +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis	GUncertain significance
Select item 977381	NM_016284.5(CNOT1):c.1240A>G (p.Ile414Val)	CNOT1 (I414V)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance

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Links from Gene

Items: 42