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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTK2
(R124* +34 more)
Single nucleotide variant
(nonsense +1 more)
Autism
+10 more
GUncertain significance
GNS
(P532A)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
+22 more
GUncertain significance
KAT6B
(R438fs +7 more)
Deletion
(frameshift variant)
Blepharophimosis
+9 more
GLikely pathogenic
MED13L
Translocation
Hypertelorism
+13 more
GPathogenic
ABCC9
(R1154W +1 more)
Single nucleotide variant
(missense variant)
ABCC9-Related Disorders
+18 more
GPathogenic/Likely pathogenic
DPYD
Single nucleotide variant
(splice donor variant)
fluorouracil response - Toxicity
+3 more
Gdrug response
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