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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAR1B
(R305C)
Single nucleotide variant
(missense variant)
Marbach-Schaaf neurodevelopmental syndrome
GUncertain significance
PRKAR1B
Deletion
Marbach-Schaaf neurodevelopmental syndrome
GUncertain significance
PRKAR1B
(W190*)
Single nucleotide variant
(nonsense)
Marbach-Schaaf neurodevelopmental syndrome
GLikely pathogenic
PRKAR1B
(A270V)
Single nucleotide variant
(missense variant)
Marbach-Schaaf neurodevelopmental syndrome
GUncertain significance
PRKAR1B
(V381G)
Single nucleotide variant
(missense variant)
Marbach-Schaaf neurodevelopmental syndrome
GUncertain significance
PRKAR1B, PRKAR1B-AS1
Inversion
(missense variant)
Marbach-Schaaf neurodevelopmental syndrome
GPathogenic
PRKAR1B
Single nucleotide variant
(missense variant)
Marbach-Schaaf neurodevelopmental syndrome
GConflicting classifications of pathogenicity
PRKAR1B
(R335W)
Single nucleotide variant
(missense variant)
PRKAR1B-related neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
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