"GeneDx"[submitter] AND "NAA10"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 58740	GRCh38/hg38 Xq28(chrX:153769547-154394658)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 58741	GRCh38/hg38 Xq28(chrX:153777340-154397779)x3	ARHGAP4, AVPR2 +66 more	Copy number gain	See cases	GPathogenic
Select item 58742	GRCh38/hg38 Xq28(chrX:153787044-154397779)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 1244939	NM_003491.4(NAA10):c.*47C>T	NAA10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 617458	NM_003491.4(NAA10):c.*40A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617462	NM_003491.4(NAA10):c.*39A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3369033	NM_003491.4(NAA10):c.643_651del (p.Val215_Glu217del)	NAA10	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1312890	NM_003491.4(NAA10):c.625A>G (p.Ser209Gly)	NAA10 (S194G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432928	NM_003491.4(NAA10):c.613_615del (p.Ser205del)	NAA10 (S205del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 3375727	NM_003491.4(NAA10):c.583C>A (p.Arg195Ser)	NAA10 (R180S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274891	NM_003491.4(NAA10):c.472-208C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244661	NM_003491.4(NAA10):c.472-216C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667509	NM_003491.4(NAA10):c.472-245A>C	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667508	NM_003491.4(NAA10):c.471+159A>G	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192041	NM_003491.4(NAA10):c.471+122C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270006	NM_003491.4(NAA10):c.471+34G>A	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1065122	NM_003491.4(NAA10):c.455_458del (p.Thr152fs)	NAA10 (T137fs +2 more)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 985001	NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)	NAA10 (R134W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 373777	NM_003491.4(NAA10):c.440T>C (p.Met147Thr)	NAA10 (M147T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2497935	NM_003491.4(NAA10):c.428A>T (p.Asp143Val)	NAA10 (D128V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677177	NM_003491.4(NAA10):c.387-45C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667507	NM_003491.4(NAA10):c.387-129G>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706714	NM_003491.4(NAA10):c.387-189C>T	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280237	NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)	NAA10 (F128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 236258	NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)	NAA10 (F128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1326724	NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)	NAA10 (R110Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 372842	NM_003491.4(NAA10):c.339G>T (p.Lys113Asn)	NAA10 (K113N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3372891	NM_003491.4(NAA10):c.310G>A (p.Ala104Thr)	NAA10 (A104T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500532	NM_003491.4(NAA10):c.308A>T (p.Asn103Ile)	NAA10 (N103I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303273	NM_003491.4(NAA10):c.308A>G (p.Asn103Ser)	NAA10 (N103S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986784	NM_003491.4(NAA10):c.298G>A (p.Glu100Lys)	NAA10 (E100K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367806	NM_003491.4(NAA10):c.287G>C (p.Arg96Pro)	NAA10 (R90P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712856	NM_003491.4(NAA10):c.253G>A (p.Gly85Ser)	NAA10 (G79S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691256	NM_003491.4(NAA10):c.248G>A (p.Arg83His)	NAA10 (R77H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2502813	NM_003491.4(NAA10):c.245G>A (p.Arg82Gln)	NAA10 (R76Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211059	NM_003491.4(NAA10):c.236G>A (p.Arg79His)	NAA10 (R73H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 391316	NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)	NAA10 (R79C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GConflicting classifications of pathogenicity
Select item 3340772	NM_003491.4(NAA10):c.226G>A (p.Ala76Thr)	NAA10 (A70T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1187842	NM_003491.4(NAA10):c.180-91A>G	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247778	NM_003491.4(NAA10):c.179+236G>C	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283260	NM_003491.4(NAA10):c.179+111A>G	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207238	NM_003491.4(NAA10):c.179+32A>G	NAA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246360	NM_003491.4(NAA10):c.121-132G>T	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309946	NM_003491.4(NAA10):c.112T>A (p.Trp38Arg)	NAA10 (W38R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432646	NM_003491.4(NAA10):c.92A>G (p.Tyr31Cys)	NAA10 (Y31C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1300802	NM_003491.4(NAA10):c.49T>G (p.Cys17Gly)	NAA10 (C17G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1229560	NM_003491.4(NAA10):c.22-88G>A	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677204	NM_003491.4(NAA10):c.22-92C>G	NAA10	Single nucleotide variant (intron variant)	not provided	GBenign
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 423288	NM_003491.4(NAA10):c.11G>T (p.Arg4Leu)	LOC130068840, NAA10 (R4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371634	NM_003491.4(NAA10):c.5del (p.Asn2fs)	LOC130068840, NAA10 (N2fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1287965	NC_000023.11:g.153935224A>G	LOC130068840, NAA10	Single nucleotide variant	not provided	GBenign
Select item 1241171	NC_000023.11:g.153935244C>T	LOC130068840, NAA10	Single nucleotide variant	not provided	GBenign
Select item 253880	GRCh37/hg19 Xq28(chrX:152912867-153236360)x2	RENBP, BCAP31 +14 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253650	GRCh37/hg19 Xq28(chrX:152993910-153555804)x2	RENBP, L1CAM +18 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253510	GRCh37/hg19 Xq28(chrX:153047627-153555804)x2	TMEM187, RENBP +16 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360770	NM_003491.4(NAA10):c.316T>A (p.Tyr106Asn)	NAA10 (Y100N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 82