Related gene-specific medical variations for Gene (Select 10159) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2756836	NM_005765.3(ATP6AP2):c.37+5G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2739477	NM_005765.3(ATP6AP2):c.37+18G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2729746	NM_005765.3(ATP6AP2):c.35C>T (p.Ala12Val)	ATP6AP2, LOC130068149 (A12V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2106655	NM_005765.3(ATP6AP2):c.37+15G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 2027922	NM_005765.3(ATP6AP2):c.6T>A (p.Ala2=)	ATP6AP2, LOC130068149	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1998069	NM_005765.3(ATP6AP2):c.37+17C>G	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1676402	NM_005765.3(ATP6AP2):c.32T>C (p.Val11Ala)	ATP6AP2 (V11A)	Single nucleotide variant	not provided	GUncertain significance
Select item 1603981	NM_005765.3(ATP6AP2):c.37+12G>A	ATP6AP2, LOC130068149	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Hedera type	GLikely benign
Select item 1010312	NM_005765.3(ATP6AP2):c.33G>A (p.Val11=)	ATP6AP2, LOC130068149	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 204914	NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe)	ATP6AP2, LOC130068149 (L7F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity