U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PANX1
(S250L)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 7
GUncertain significance
LOC130006599, PANX1
(Q5H)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 7
+1 more
GBenign
LOC130006599, PANX1
Deletion
(inframe_deletion)
Oocyte maturation defect 7
GPathogenic
PANX1
(K346E)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 7
GPathogenic
PANX1
(C347S)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 7
GPathogenic
PANX1
(Q392*)
Single nucleotide variant
(nonsense)
Oocyte maturation defect 7
GPathogenic
Format
Items per page
Sort by
Choose Destination