ClinVar for MedGen (Select 1776566) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3061856	NM_016284.5(CNOT1):c.3754_3756dup (p.Phe1252_Arg1253insPhe)	CNOT1	Duplication (inframe_insertion +1 more)	Vissers-Bodmer syndrome +1 more	GLikely pathogenic
Select item 2664978	NM_016284.5(CNOT1):c.668_669inv (p.Leu223Arg)	CNOT1 (L223R)	Inversion (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 2580293	GRCh37/hg19 16q21(chr16:58587636-58610536)x1	CNOT1	Copy number loss	Vissers-Bodmer syndrome	GPathogenic
Select item 2442368	NM_016284.5(CNOT1):c.3055C>T (p.Gln1019Ter)	CNOT1 (Q1014* +1 more)	Single nucleotide variant (nonsense +1 more)	Vissers-Bodmer syndrome	GPathogenic
Select item 1805248	NM_016284.5(CNOT1):c.3362C>T (p.Thr1121Met)	CNOT1 (T1116M +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 1804928	NM_016284.5(CNOT1):c.2035A>C (p.Asn679His)	CNOT1 (N679H)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 1804087	NM_016284.5(CNOT1):c.434-2A>G	CNOT1	Single nucleotide variant (splice acceptor variant)	Vissers-Bodmer syndrome	GPathogenic
Select item 1804086	NM_016284.5(CNOT1):c.550del (p.Leu184fs)	CNOT1 (L184fs)	Deletion (frameshift variant +1 more)	Vissers-Bodmer syndrome	GLikely pathogenic
Select item 1709232	NM_016284.5(CNOT1):c.3750+5G>A	CNOT1	Single nucleotide variant (intron variant)	Vissers-Bodmer syndrome	GLikely pathogenic
Select item 1699364	NM_016284.5(CNOT1):c.2129A>C (p.Gln710Pro)	CNOT1 (Q710P)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
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 1343213	NM_016284.5(CNOT1):c.6196delinsAA (p.Gln2066fs)	CNOT1 (Q2061fs +1 more)	Indel (frameshift variant +1 more)	Vissers-Bodmer syndrome	GLikely pathogenic
Select item 1343159	NM_016284.5(CNOT1):c.1004_1005dup (p.Trp336fs)	CNOT1 (W336fs)	Microsatellite (frameshift variant +1 more)	Vissers-Bodmer syndrome	GLikely pathogenic
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 1285502	NM_016284.5(CNOT1):c.5316T>G (p.Asp1772Glu)	CNOT1 (D1767E +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 1217379	NM_016284.5(CNOT1):c.909A>G (p.Gly303=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	Vissers-Bodmer syndrome +2 more	GBenign
Select item 1217378	NM_016284.5(CNOT1):c.2919G>A (p.Gln973=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	CNOT1-related condition +3 more	GBenign
Select item 1217376	NM_016284.5(CNOT1):c.4006+12A>G	CNOT1	Single nucleotide variant (intron variant)	Holoprosencephaly 12 with or without pancreatic agenesis +2 more	GBenign
Select item 1217375	NM_016284.5(CNOT1):c.4128G>A (p.Leu1376=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	Vissers-Bodmer syndrome +2 more	GBenign
Select item 1217374	NM_016284.5(CNOT1):c.4524G>A (p.Gln1508=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	Vissers-Bodmer syndrome +1 more	GBenign
Select item 1217373	NM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	CNOT1-related condition +3 more	GBenign
Select item 1217372	NM_016284.5(CNOT1):c.5896-5C>T	CNOT1	Single nucleotide variant (intron variant)	Vissers-Bodmer syndrome +2 more	GBenign
Select item 1174589	NM_016284.5(CNOT1):c.3398A>G (p.Tyr1133Cys)	CNOT1 (Y1128C +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 996137	NM_016284.5(CNOT1):c.3710C>T (p.Pro1237Leu)	CNOT1 (P1232L +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 982380	NM_016284.5(CNOT1):c.102+2T>C	CNOT1	Single nucleotide variant (splice donor variant)	Vissers-Bodmer syndrome	GLikely pathogenic
Select item 978824	NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys)	CNOT1 (R1478C +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GConflicting classifications of pathogenicity
Select item 978823	NM_016284.5(CNOT1):c.2698C>T (p.Arg900Cys)	CNOT1 (R900C +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GPathogenic
Select item 978821	NM_016284.5(CNOT1):c.97C>T (p.Gln33Ter)	CNOT1 (Q33*)	Single nucleotide variant (nonsense +1 more)	Vissers-Bodmer syndrome	GPathogenic
Select item 978820	NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter)	CNOT1 (R26*)	Single nucleotide variant (nonsense +1 more)	See cases +1 more	GPathogenic
Select item 421508	NM_016284.5(CNOT1):c.608_611del (p.Ile203fs)	CNOT1 (I203fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance

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Items: 31