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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVX2, LOC110120627
Deletion
Synpolydactyly type 1
GLikely pathogenic
HOXD13
(D208V)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GUncertain significance
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
(N236fs)
Deletion
(frameshift variant)
Synpolydactyly type 1
GPathogenic
HOXD13
Duplication
(inframe_insertion)
Brachydactyly-syndactyly syndrome
+4 more
GPathogenic
HOXD13
(G237R)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GUncertain significance
HOXD13
Insertion
(inframe_insertion)
Synpolydactyly type 1
+1 more
GPathogenic
HOXD13
(Q248fs)
Deletion
(frameshift variant)
Brachydactyly type E1
+3 more
GPathogenic
CHST11
Deletion
(inframe_deletion)
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
+5 more
GConflicting classifications of pathogenicity
HOXD13
(P99R)
Single nucleotide variant
(missense variant)
Brachydactyly type E1
+6 more
GUncertain significance
HOXD13
(R274*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+13 more
GPathogenic/Likely pathogenic
HOXD13
(R306G)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(G228A)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GPathogenic
HOXD13
Single nucleotide variant
(splice donor variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(R306Q)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(G11A)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HOXD13
(Q248*)
Single nucleotide variant
(nonsense)
Synpolydactyly type 1
GPathogenic
HOXD13
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
HOXD13
(G228V)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GPathogenic
HOXD13
Insertion
(inframe_insertion)
Synpolydactyly type 1
+1 more
GPathogenic
HOXD13
(R306W)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
+1 more
GPathogenic/Likely pathogenic
HOXD13
Deletion
(splice acceptor variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(K279fs)
Deletion
(frameshift variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(P108fs)
Deletion
(frameshift variant)
Synpolydactyly type 1
GPathogenic
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