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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6AP2
(S53F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP6AP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+2 more
GBenign/Likely benign
ATP6AP2
(P90A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
ATP6AP2
(R155C)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Hedera type
+1 more
GUncertain significance
ATP6AP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP6AP2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ATP6AP2
(N327S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ATP6AP2
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Hedera type
+3 more
GBenign/Likely benign
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