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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6AP2
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Hedera type
GUncertain significance
ATP6AP2
(S92N)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Hedera type
+1 more
GUncertain significance
ATP6AP2
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Hedera type
+1 more
GLikely benign
ATP6AP2
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Hedera type
+4 more
GBenign/Likely benign
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