NAA25[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2235937	NM_024953.4(NAA25):c.2741A>G (p.His914Arg)	NAA25 (H914R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226892	NM_024953.4(NAA25):c.2681T>G (p.Val894Gly)	NAA25 (V894G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391446	NM_024953.4(NAA25):c.2678A>G (p.Tyr893Cys)	NAA25 (Y893C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486279	NM_024953.4(NAA25):c.2665A>T (p.Ser889Cys)	NAA25 (S889C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793601	NM_024953.4(NAA25):c.2650-5C>T	NAA25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2401204	NM_024953.4(NAA25):c.2619A>C (p.Lys873Asn)	NAA25 (K873N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595681	NM_024953.4(NAA25):c.2609A>G (p.Gln870Arg)	NAA25 (Q870R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171496	NM_024953.4(NAA25):c.2588G>A (p.Arg863Gln)	NAA25 (R863Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171495	NM_024953.4(NAA25):c.2518A>C (p.Asn840His)	NAA25 (N840H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298273	NM_024953.4(NAA25):c.2383A>T (p.Met795Leu)	NAA25 (M795L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171492	NM_024953.4(NAA25):c.2377G>T (p.Asp793Tyr)	NAA25 (D793Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341837	NM_024953.4(NAA25):c.2342A>G (p.Asn781Ser)	NAA25 (N781S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787176	NM_024953.4(NAA25):c.2168G>A (p.Arg723Gln)	NAA25 (R723Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3171488	NM_024953.4(NAA25):c.2167C>T (p.Arg723Trp)	NAA25 (R723W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514408	NM_024953.4(NAA25):c.2144C>G (p.Thr715Ser)	NAA25 (T715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171481	NM_024953.4(NAA25):c.2096G>T (p.Gly699Val)	NAA25 (G699V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171476	NM_024953.4(NAA25):c.2051C>T (p.Thr684Ile)	NAA25 (T684I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544158	NM_024953.4(NAA25):c.1917C>G (p.Asn639Lys)	NAA25 (N639K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171469	NM_024953.4(NAA25):c.1837C>A (p.Arg613Ser)	NAA25 (R613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372328	NM_024953.4(NAA25):c.1721A>G (p.Gln574Arg)	NAA25 (Q574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765613	NM_024953.4(NAA25):c.1695C>T (p.Phe565=)	NAA25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171462	NM_024953.4(NAA25):c.1593C>G (p.Ser531Arg)	NAA25 (S531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609096	NM_024953.4(NAA25):c.1553T>C (p.Met518Thr)	NAA25 (M518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306954	NM_024953.4(NAA25):c.1501C>T (p.His501Tyr)	NAA25 (H501Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336107	NM_024953.4(NAA25):c.1448G>A (p.Gly483Asp)	NAA25 (G483D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171447	NM_024953.4(NAA25):c.1325T>G (p.Leu442Trp)	NAA25 (L442W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223813	NM_024953.4(NAA25):c.1283A>G (p.His428Arg)	NAA25 (H428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643333	NM_024953.4(NAA25):c.1275C>A (p.Gly425=)	NAA25	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3298275	NM_024953.4(NAA25):c.1142G>A (p.Cys381Tyr)	NAA25 (C381Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463847	NM_024953.4(NAA25):c.1069A>G (p.Lys357Glu)	NAA25 (K357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513778	NM_024953.4(NAA25):c.953G>A (p.Arg318His)	NAA25 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298274	NM_024953.4(NAA25):c.712A>G (p.Met238Val)	NAA25 (M238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257425	NM_024953.4(NAA25):c.631G>C (p.Glu211Gln)	NAA25 (E211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304441	NM_024953.4(NAA25):c.145G>A (p.Val49Ile)	NAA25 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599989	NM_024953.4(NAA25):c.17A>G (p.His6Arg)	NAA25 (H6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809146	GRCh37/hg19 12q24.13(chr12:112384547-112556436)x1	ERP29, NAA25 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687676	GRCh37/hg19 12q24.13(chr12:112434656-112518803)x1	ERP29, NAA25 +1 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 42