"NAA10-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1423171	NM_003491.4(NAA10):c.586GAG[1] (p.Glu197del)	NAA10 (E191del +2 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 3055204	NM_003491.4(NAA10):c.511G>A (p.Val171Met)	NAA10 (V156M +2 more)	Single nucleotide variant (missense variant)	NAA10-related condition	GLikely benign
Select item 746084	NM_003491.4(NAA10):c.429C>T (p.Asp143=)	NAA10	Single nucleotide variant (synonymous variant)	NAA10-related condition +1 more	GLikely benign
Select item 1326724	NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)	NAA10 (R110Q +1 more)	Single nucleotide variant (missense variant +1 more)	Ogden syndrome +2 more	GConflicting classifications of pathogenicity
Select item 139644	NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	NAA10 (R116W +1 more)	Single nucleotide variant (missense variant +1 more)	NAA10-related condition +3 more	GPathogenic/Likely pathogenic
Select item 3045700	NM_003491.4(NAA10):c.342-8C>T	NAA10	Single nucleotide variant (intron variant)	NAA10-related condition	GLikely benign
Select item 3029992	NM_003491.4(NAA10):c.341+4G>A	NAA10	Single nucleotide variant (intron variant)	NAA10-related condition	GLikely benign
Select item 289285	NM_003491.4(NAA10):c.201G>C (p.Val67=)	NAA10	Single nucleotide variant (synonymous variant)	NAA10-related condition +1 more	GConflicting classifications of pathogenicity
Select item 435923	NM_003491.4(NAA10):c.141C>T (p.Asp47=)	NAA10	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3035240	NM_003491.4(NAA10):c.120+5G>T	NAA10	Single nucleotide variant (intron variant)	NAA10-related condition	GUncertain significance