ClinVar for MedGen (Select 1776566) - ClinVar

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

Links from MedGen

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3581127	NM_016284.5(CNOT1):c.581G>T (p.Gly194Val)	CNOT1 (G194V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +1 more	GUncertain significance
Select item 3581126	NM_016284.5(CNOT1):c.3618A>C (p.Lys1206Asn)	CNOT1 (K1201N +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +1 more	GUncertain significance
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 3381236	NM_016284.5(CNOT1):c.1042C>A (p.Leu348Met)	CNOT1 (L348M)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3377758	NM_016284.5(CNOT1):c.2455T>C (p.Phe819Leu)	CNOT1 (F819L)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3376969	NM_016284.5(CNOT1):c.4385T>C (p.Leu1462Pro)	CNOT1 (L1457P +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3376289	NM_016284.5(CNOT1):c.4114C>T (p.Pro1372Ser)	CNOT1 (P1367S +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3376261	NM_016284.5(CNOT1):c.954T>A (p.Ser318Arg)	CNOT1 (S318R)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3370400	NM_016284.5(CNOT1):c.4205dup (p.Glu1403fs)	CNOT1 (E1398fs +1 more)	Duplication (frameshift variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +1 more	GUncertain significance
Select item 3362855	NM_016284.5(CNOT1):c.334T>C (p.Phe112Leu)	CNOT1 (F112L)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3342251	NM_016284.5(CNOT1):c.2853T>G (p.Tyr951Ter)	CNOT1 (Y946* +1 more)	Single nucleotide variant (nonsense +1 more)	Vissers-Bodmer syndrome	GLikely pathogenic
Select item 3254970	NM_016284.5(CNOT1):c.4433G>A (p.Arg1478His)	CNOT1 (R1473H +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3252032	NM_016284.5(CNOT1):c.3722A>G (p.Lys1241Arg)	CNOT1 (K1236R +1 more)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3242137	NM_016284.5(CNOT1):c.6603+3T>A	CNOT1	Single nucleotide variant (intron variant)	Vissers-Bodmer syndrome	GUncertain significance
Select item 3234107	NM_016284.5(CNOT1):c.4312C>T (p.Arg1438Ter)	CNOT1 (R1433* +1 more)	Single nucleotide variant (nonsense +1 more)	Vissers-Bodmer syndrome	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 3061856	NM_016284.5(CNOT1):c.3754_3756dup (p.Phe1252_Arg1253insPhe)	CNOT1	Duplication (inframe_insertion +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +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 2273712	NM_016284.5(CNOT1):c.1862A>G (p.Lys621Arg)	CNOT1 (K621R)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome +1 more	GUncertain significance
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 1691561	NM_016284.5(CNOT1):c.608T>C (p.Ile203Thr)	CNOT1 (I203T)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GConflicting classifications of pathogenicity
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)	Holoprosencephaly 12 with or without pancreatic agenesis +2 more	GBenign
Select item 1217378	NM_016284.5(CNOT1):c.2919G>A (p.Gln973=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +2 more	GBenign
Select item 1217376	NM_016284.5(CNOT1):c.4006+12A>G	CNOT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1217375	NM_016284.5(CNOT1):c.4128G>A (p.Leu1376=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +2 more	GBenign
Select item 1217374	NM_016284.5(CNOT1):c.4524G>A (p.Gln1508=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +1 more	GBenign
Select item 1217373	NM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=)	CNOT1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 12 with or without pancreatic agenesis +2 more	GBenign
Select item 1217372	NM_016284.5(CNOT1):c.5896-5C>T	CNOT1	Single nucleotide variant (intron variant)	Holoprosencephaly 12 with or without pancreatic agenesis +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 619606	NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)	CNOT1 (R535C)	Single nucleotide variant (missense variant +1 more)	Vissers-Bodmer syndrome +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 49