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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFCAB7
Microsatellite
(splice acceptor variant)
Postaxial polydactyly
GUncertain significance
EFCAB7
(G277fs)
Deletion
(frameshift variant)
Postaxial polydactyly
GUncertain significance
LOC100507346, PTCH1
(L605fs +4 more)
Deletion
(non-coding transcript variant +1 more)
PTCH1-related disorder
GLikely pathogenic
BCL11A
(Q50*)
Single nucleotide variant
(nonsense)
Postaxial polydactyly
+1 more
GPathogenic
DHX34
(Q156*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorders
+6 more
GLikely pathogenic
LOC126863158, EP300
Indel
(splice acceptor variant +1 more)
Abnormal facial shape
+2 more
GPathogenic
GLI3
(G727R)
Single nucleotide variant
(missense variant)
Polydactyly
+5 more
GBenign/Likely benign
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