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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGEF9
(M388V +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ARHGEF9
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ARHGEF9
(G364V +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARHGEF9
Single nucleotide variant
(synonymous variant)
ARHGEF9-related condition
+4 more
GConflicting classifications of pathogenicity
ARHGEF9
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 8
+3 more
GConflicting classifications of pathogenicity
ARHGEF9
(R104W +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGEF9
(N87S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARHGEF9
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
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