Related gene-specific medical variations for Gene (Select 8260) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3002532	NM_003491.4(NAA10):c.6C>T (p.Asn2=)	LOC130068840, NAA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434012	NM_003491.4(NAA10):c.322_333del (p.Ser108_Val111del)	NAA10	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1712895	NM_003491.4(NAA10):c.17C>A (p.Ala6Glu)	LOC130068840, NAA10 (A6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679677	NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr)	NAA10 (D125Y +2 more)	Single nucleotide variant (missense variant)	Ogden syndrome +1 more	GUncertain significance
Select item 1550998	NM_003491.4(NAA10):c.21+18G>A	LOC130068840, NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1387530	NM_003491.4(NAA10):c.10C>G (p.Arg4Gly)	LOC130068840, NAA10 (R4G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1301496	NM_003491.4(NAA10):c.-106G>A	LOC130068840, NAA10	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1300158	NM_003491.4(NAA10):c.16G>C (p.Ala6Pro)	LOC130068840, NAA10 (A6P)	Single nucleotide variant (missense variant)	Ogden syndrome	GPathogenic
Select item 983399	NM_003491.4(NAA10):c.472-38C>G	NAA10	Single nucleotide variant (intron variant)	Autism +1 more	GUncertain significance
Select item 423288	NM_003491.4(NAA10):c.11G>T (p.Arg4Leu)	LOC130068840, NAA10 (R4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance