U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNOT1
(S1461A +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 12 with or without pancreatic agenesis
GUncertain significance
CNOT1
(T1414S +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 12 with or without pancreatic agenesis
GUncertain significance
CNOT1
Single nucleotide variant
(intron variant)
Holoprosencephaly 12 with or without pancreatic agenesis
+1 more
GUncertain significance
CNOT1
(Y1165C +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 12 with or without pancreatic agenesis
GUncertain significance
CNOT1
Single nucleotide variant
(synonymous variant +1 more)
Vissers-Bodmer syndrome
+2 more
GBenign
CNOT1
Single nucleotide variant
(synonymous variant +1 more)
Vissers-Bodmer syndrome
+2 more
GBenign
CNOT1
Single nucleotide variant
(intron variant)
Vissers-Bodmer syndrome
+2 more
GBenign
CNOT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Vissers-Bodmer syndrome
+2 more
GBenign
CNOT1
Single nucleotide variant
(synonymous variant +1 more)
Vissers-Bodmer syndrome
+1 more
GBenign
CNOT1
Single nucleotide variant
(synonymous variant +1 more)
Vissers-Bodmer syndrome
+2 more
GBenign
CNOT1
Single nucleotide variant
(intron variant)
Vissers-Bodmer syndrome
+2 more
GBenign
CNOT1
(E1781G +1 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 12 with or without pancreatic agenesis
GUncertain significance
CNOT1
(R535C)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 12 with or without pancreatic agenesis
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination