"NAA15-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2200510	NM_057175.5(NAA15):c.613C>T (p.Leu205Phe)	NAA15 (L205F)	Single nucleotide variant (missense variant)	NAA15-related condition +1 more	GLikely benign
Select item 776020	NM_057175.5(NAA15):c.711A>G (p.Leu237=)	NAA15	Single nucleotide variant (synonymous variant)	NAA15-related condition +1 more	GBenign
Select item 2069236	NM_057175.5(NAA15):c.918T>C (p.Phe306=)	NAA15	Single nucleotide variant (synonymous variant)	NAA15-related condition +1 more	GLikely benign
Select item 2633181	NM_057175.5(NAA15):c.1004A>G (p.Asp335Gly)	NAA15 (D335G)	Single nucleotide variant (missense variant)	NAA15-related condition	GUncertain significance
Select item 3058036	NM_057175.5(NAA15):c.1087+7C>T	NAA15	Single nucleotide variant (intron variant)	NAA15-related condition	GLikely benign
Select item 2082523	NM_057175.5(NAA15):c.1088-6C>G	NAA15	Single nucleotide variant (intron variant)	NAA15-related condition +1 more	GLikely benign
Select item 3029588	NM_057175.5(NAA15):c.1122T>C (p.Leu374=)	NAA15	Single nucleotide variant (synonymous variant)	NAA15-related condition	GLikely benign
Select item 2717228	NM_057175.5(NAA15):c.1237G>T (p.Val413Leu)	NAA15 (V413L)	Single nucleotide variant (missense variant)	NAA15-related condition +1 more	GUncertain significance
Select item 2636323	NM_057175.5(NAA15):c.1455del (p.Met485fs)	NAA15 (M485fs)	Deletion (frameshift variant)	NAA15-related condition	GLikely pathogenic
Select item 1567204	NM_057175.5(NAA15):c.1785A>T (p.Leu595=)	NAA15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 716110	NM_057175.5(NAA15):c.1944C>T (p.Ala648=)	NAA15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3061403	NM_057175.5(NAA15):c.2056G>C (p.Glu686Gln)	NAA15 (E686Q)	Single nucleotide variant (missense variant)	NAA15-related condition	GUncertain significance
Select item 730948	NM_057175.5(NAA15):c.2115T>C (p.His705=)	NAA15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2082397	NM_057175.5(NAA15):c.2149A>C (p.Asn717His)	NAA15 (N717H)	Single nucleotide variant (missense variant)	NAA15-related condition +1 more	GBenign
Select item 2066141	NM_057175.5(NAA15):c.2303-8T>A	NAA15	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2636450	NM_057175.5(NAA15):c.2334del (p.Ser779fs)	NAA15 (S778fs +1 more)	Deletion (frameshift variant)	NAA15-related condition	GLikely pathogenic
Select item 2756234	NM_057175.5(NAA15):c.2356T>C (p.Leu786=)	NAA15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign