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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLX5
(L170P)
Single nucleotide variant
(missense variant)
Split hand-foot malformation 1
GLikely pathogenic
ARPC1A, ARPC1B
+65 more
Copy number loss
Split hand-foot malformation 1
GPathogenic
MAP3K20, MAP3K20-AS1
(F368C)
Single nucleotide variant
(missense variant)
Split-foot malformation-mesoaxial polydactyly syndrome
+1 more
GPathogenic
DLX5
(E39*)
Single nucleotide variant
(nonsense)
Split hand-foot malformation 1
GPathogenic
DLX5, LOC126860116
(Q186H)
Single nucleotide variant
(missense variant)
Split hand-foot malformation 1
+1 more
GPathogenic
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