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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOXD13
(A57V)
Single nucleotide variant
(missense variant)
Brachydactyly type E1
+5 more
GUncertain significance
HOXD13
(A68P)
Single nucleotide variant
(missense variant)
Brachydactyly type D
+5 more
GUncertain significance
HOXD13
Duplication
(inframe_insertion)
Synpolydactyly type 1
+4 more
GPathogenic
HOXD13
(Q248fs)
Deletion
(frameshift variant)
Brachydactyly type E1
+3 more
GPathogenic
HOXD13
(P99R)
Single nucleotide variant
(missense variant)
HOXD13-related condition
+6 more
GUncertain significance
HOXD13
(R274*)
Single nucleotide variant
(nonsense)
Synpolydactyly
+13 more
GPathogenic/Likely pathogenic
GMDS, DUSP22
+16 more
Copy number gain
Brachydactyly type E1
GPathogenic
HOXD13
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
HOXD13
(R306W)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
+1 more
GPathogenic/Likely pathogenic
HOXD13
(S316C)
Single nucleotide variant
(missense variant)
Brachydactyly type D
+1 more
GPathogenic
HOXD13
(I322L)
Single nucleotide variant
(missense variant)
Brachydactyly type D
+1 more
GPathogenic
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