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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2B1
(V793L +2 more)
Single nucleotide variant
(missense variant)
Isolated Pierre-Robin syndrome
+4 more
GLikely pathogenic
ATP2B1
Single nucleotide variant
(splice donor variant)
Isolated Pierre-Robin syndrome
+4 more
GLikely pathogenic
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
SNRPB
Single nucleotide variant
(splice acceptor variant)
Isolated Pierre-Robin syndrome
+1 more
GLikely pathogenic
ACADVL, ACAP1
+25 more
Duplication
Bilateral conductive hearing impairment
+3 more
GLikely pathogenic
SLC25A12, DLX1
+5 more
Copy number gain
Isolated Pierre-Robin syndrome
+3 more
GUncertain significance
EBF3
(R163Q)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
+8 more
GPathogenic
Translocation
Cleft soft palate
+13 more
GUncertain significance
Translocation
Isolated Pierre-Robin syndrome
GUncertain significance
Translocation
Isolated Pierre-Robin syndrome
+1 more
GUncertain significance
Translocation
Isolated Pierre-Robin syndrome
+14 more
GPathogenic
Translocation
Acute pancreatitis
+12 more
GUncertain significance
TNNT3
(R223C +8 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MED13L
Translocation
Hypertelorism
+13 more
GPathogenic
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