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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOXD13
(A57V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
HOXD13
(A68P)
Single nucleotide variant
(missense variant)
Brachydactyly type D
+5 more
GUncertain significance
HOXD13
Microsatellite
(inframe_insertion)
Brachydactyly-syndactyly syndrome
GLikely benign
HOXD13
Duplication
(inframe_insertion)
Brachydactyly type D
+4 more
GPathogenic
HOXD13
(G73S)
Single nucleotide variant
(missense variant)
Brachydactyly-syndactyly syndrome
+1 more
GUncertain significance
HOXD13
(P99R)
Single nucleotide variant
(missense variant)
HOXD13-related disorder
+6 more
GUncertain significance
HOXD13
(R274*)
Single nucleotide variant
(nonsense)
Synpolydactyly
+13 more
GPathogenic/Likely pathogenic
HOXD13
Deletion
(inframe_deletion)
Brachydactyly-syndactyly syndrome
GPathogenic
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