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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP6
(S1455fs)
Duplication
(frameshift variant)
Sparse scalp hair
+4 more
GUncertain significance
COL17A1
(E1382fs)
Microsatellite
(frameshift variant)
See cases
+16 more
GPathogenic
CHD2
(I317V)
Single nucleotide variant
(missense variant)
CNS hypomyelination
+10 more
GLikely benign
GLI2
(G85A)
Single nucleotide variant
(missense variant +1 more)
CNS hypomyelination
+10 more
GLikely benign
HDAC8
(R166* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+8 more
GPathogenic
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