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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRG1
(T9M)
Single nucleotide variant
(missense variant +2 more)
Polymicrogyria, bilateral perisylvian, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ADGRG1
(P72fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ADGRG1
Indel
(missense variant)
Polymicrogyria, bilateral perisylvian, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
ADGRG1
(G282R +4 more)
Single nucleotide variant
(missense variant)
Bilateral frontoparietal polymicrogyria
+3 more
GBenign/Likely benign
ADGRG1
(R476* +7 more)
Single nucleotide variant
(nonsense)
Polymicrogyria, bilateral perisylvian, autosomal recessive
+2 more
GPathogenic
ADGRG1
(R598Q +7 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
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