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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB19
(W111R)
Single nucleotide variant
(missense variant)
Non-syndromic syndactyly
GUncertain significance
CDH20
(R687W)
Single nucleotide variant
(missense variant)
Non-syndromic syndactyly
GUncertain significance
LRP2
(G1297W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AGGF1
Duplication
(inframe_insertion)
Non-syndromic syndactyly
GLikely pathogenic
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