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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTK2
(R124* +34 more)
Single nucleotide variant
(nonsense +1 more)
Autism
+10 more
GUncertain significance
ERLEC1, GPR75-ASB3
(N429S +2 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular prognathia
GLikely pathogenic
ERLEC1, GPR75-ASB3
(T140I)
Single nucleotide variant
(missense variant +1 more)
Mandibular prognathia
GLikely pathogenic
ERLEC1, GPR75-ASB3
(T140S)
Single nucleotide variant
(missense variant +1 more)
Mandibular prognathia
GLikely pathogenic
ERLEC1, GPR75-ASB3
(H413Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Mandibular prognathia
GLikely pathogenic
GNS
(P532A)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
+22 more
GUncertain significance
CENPO, PTRHD1
+7 more
Copy number gain
Fetal growth restriction
+4 more
GUncertain significance
C9orf163, SEC16A
+5 more
Duplication
Fetal growth restriction
+4 more
GUncertain significance
CSNK2B
(D32N)
Single nucleotide variant
(missense variant)
CSNK2B-related intellectual disability with or without epilepsy
+4 more
GConflicting classifications of pathogenicity
DEAF1
(G223S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GConflicting classifications of pathogenicity
Translocation
Congenital ectopic pupil
+26 more
GUncertain significance
Translocation
Abnormality of the tongue
+15 more
GLikely pathogenic
DPYD
Single nucleotide variant
(splice donor variant)
tegafur response - Toxicity
+3 more
Gdrug response
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