"Baylor Genetics"[submitter] AND "NAA10"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028123	NM_003491.4(NAA10):c.534C>A (p.Asn178Lys)	NAA10 (N172K +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GUncertain significance
Select item 561061	NM_003491.4(NAA10):c.494_495del (p.Lys165fs)	NAA10 (K150fs +2 more)	Deletion (frameshift variant)	Ogden syndrome	GPathogenic
Select item 1028122	NM_003491.4(NAA10):c.472-2A>C	NAA10	Single nucleotide variant (splice acceptor variant)	Ogden syndrome	GPathogenic
Select item 208664	NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)	NAA10 (R83C +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome +5 more	GPathogenic
Select item 375388	NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)	NAA10 (I72T +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome +1 more	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 625653	GRCh37/hg19 Xq28(chrX:153174571-153609996)	ARHGAP4, EMD +12 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic

ClinVar