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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFC1
(F87L +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Heterotaxy, visceral, 2, autosomal
GBenign
CFC1
(A145T)
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GBenign
CFC1
Duplication
(intron variant +1 more)
Heterotaxy, visceral, 2, autosomal
GPathogenic
CFC1
(A136fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
CFC1
(R112C)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 2, autosomal
GPathogenic
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