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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXTL3
(E736G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
EXTL3
Duplication
(intron variant)
Immunoskeletal dysplasia with neurodevelopmental abnormalities
+1 more
GLikely benign
EXTL3
(I829T)
Single nucleotide variant
(missense variant +1 more)
Immunoskeletal dysplasia with neurodevelopmental abnormalities
+1 more
GUncertain significance
EXTL3
(A507S)
Single nucleotide variant
(missense variant)
Immunoskeletal dysplasia with neurodevelopmental abnormalities
+2 more
GUncertain significance
EXTL3
(R8W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EXTL3
(R158*)
Single nucleotide variant
(nonsense)
Immunoskeletal dysplasia with neurodevelopmental abnormalities
GLikely pathogenic
EXTL3
(P318L)
Single nucleotide variant
(missense variant)
Immunoskeletal dysplasia with neurodevelopmental abnormalities
+1 more
GPathogenic/Likely pathogenic
EXTL3
(V442L)
Single nucleotide variant
(missense variant)
Immunoskeletal dysplasia with neurodevelopmental abnormalities
+1 more
GBenign/Likely benign
EXTL3
(R339W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXTL3
(N657S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EXTL3
(P461L)
Single nucleotide variant
(missense variant)
Immunoskeletal dysplasia with neurodevelopmental abnormalities
GPathogenic
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