"GeneDx"[submitter] AND "UBA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 1296620	NM_003334.4(UBA1):c.1-258A>G	LOC126863253, UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2136196	NM_003334.4(UBA1):c.81G>C (p.Gln27His)	LOC126863253, UBA1 (Q27H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413032	NM_003334.4(UBA1):c.116A>T (p.Asn39Ile)	LOC126863253, UBA1 (N39I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506851	NM_003334.4(UBA1):c.117+9C>T	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 981654	NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	LOC126863253, UBA1 (M41L)	Single nucleotide variant (missense variant)	VEXAS syndrome +2 more	GConflicting classifications of pathogenicity
Select item 836983	NM_003334.4(UBA1):c.121A>G (p.Met41Val)	LOC126863253, UBA1 (M41V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 965290	NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	LOC126863253, UBA1 (M41T)	Single nucleotide variant (missense variant)	VEXAS syndrome +3 more	GConflicting classifications of pathogenicity
Select item 511880	NM_003334.4(UBA1):c.132C>T (p.Asn44=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 511891	NM_003334.4(UBA1):c.176+15G>A	LOC126863253, UBA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387030	NM_003334.4(UBA1):c.176+18C>T	UBA1, LOC126863253	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GLikely benign
Select item 506924	NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)	LOC126863253, UBA1 (R69Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 681846	NM_003334.4(UBA1):c.246C>T (p.Gly82=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GLikely benign
Select item 533622	NM_003334.4(UBA1):c.346-3C>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign
Select item 515704	NM_003334.4(UBA1):c.411G>A (p.Glu137=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GLikely benign
Select item 513445	NM_003334.4(UBA1):c.423T>C (p.Tyr141=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +3 more	GLikely benign
Select item 513712	NM_003334.4(UBA1):c.480+19C>G	UBA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1194804	NM_003334.4(UBA1):c.480+165C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236380	NM_003334.4(UBA1):c.480+271C>G	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223611	NM_003334.4(UBA1):c.480+313C>G	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320333	NM_003334.4(UBA1):c.606T>G (p.Phe202Leu)	UBA1 (F202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702776	NM_003334.4(UBA1):c.648A>G (p.Pro216=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign
Select item 670263	NM_003334.4(UBA1):c.679-33C>G	UBA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 513577	NM_003334.4(UBA1):c.753A>G (p.Ser251=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1318833	NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)	UBA1 (K268N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 368331	NM_003334.4(UBA1):c.811+9C>G	UBA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1223649	NM_003334.4(UBA1):c.811+189G>A	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674441	NM_003334.4(UBA1):c.811+212A>G	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387591	NM_003334.4(UBA1):c.812-4G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 511920	NM_003334.4(UBA1):c.819T>C (p.Tyr273=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 426879	NM_003334.4(UBA1):c.842C>T (p.Ser281Phe)	UBA1 (S281F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697795	NM_003334.4(UBA1):c.873C>T (p.Ile291=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 971382	NM_003334.4(UBA1):c.904A>G (p.Ser302Gly)	UBA1 (S302G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 517807	NM_003334.4(UBA1):c.960C>T (p.Phe320=)	UBA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1316141	NM_003334.4(UBA1):c.1028A>G (p.His343Arg)	UBA1 (H343R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 578608	NM_003334.4(UBA1):c.1049G>A (p.Arg350His)	UBA1 (R350H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 368333	NM_003334.4(UBA1):c.1137C>T (p.Asp379=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 1318973	NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr)	UBA1 (A391T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 513578	NM_003334.4(UBA1):c.1233+13G>A	UBA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 674442	NM_003334.4(UBA1):c.1233+43T>G	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368334	NM_003334.4(UBA1):c.1242C>T (p.Ser414=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 368335	NM_003334.4(UBA1):c.1296C>T (p.Leu432=)	UBA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 392703	NM_003334.4(UBA1):c.1305C>T (p.Asp435=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 368336	NM_003334.4(UBA1):c.1340G>A (p.Arg447His)	UBA1 (R447H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 509680	NM_003334.4(UBA1):c.1353T>C (p.Tyr451=)	UBA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 679600	NM_003334.4(UBA1):c.1419+92C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204965	NM_003334.4(UBA1):c.1420-146C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 368337	NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)	UBA1 (E496K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 672841	NM_003334.4(UBA1):c.1575+24C>G	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296210	NM_003334.4(UBA1):c.1575+51C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295807	NM_003334.4(UBA1):c.1575+68dup	UBA1	Duplication (intron variant)	not provided	GBenign
Select item 1233372	NM_003334.4(UBA1):c.1575+67_1575+68dup	UBA1	Duplication (intron variant)	not provided	GBenign
Select item 1707993	NM_003334.4(UBA1):c.1575+68del	UBA1	Deletion (intron variant)	not provided	GLikely benign
Select item 670264	NM_003334.4(UBA1):c.1576-161G>A	INE1, UBA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3253481	NM_003334.4(UBA1):c.1651C>T (p.Arg551Cys)	UBA1 (R551C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579906	NM_003334.4(UBA1):c.1652G>A (p.Arg551His)	UBA1 (R551H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318544	NM_003334.4(UBA1):c.1660C>T (p.Pro554Ser)	UBA1 (P554S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 703256	NM_003334.4(UBA1):c.1665C>T (p.Asp555=)	UBA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1318791	NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr)	UBA1 (D563Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389123	NM_003334.4(UBA1):c.1695C>T (p.Phe565=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 368339	NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)	UBA1 (L568V)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 674443	NM_003334.4(UBA1):c.1742-58C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385997	NM_003334.4(UBA1):c.1742-18G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign
Select item 368340	NM_003334.4(UBA1):c.1742-11G>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign
Select item 511094	NM_003334.4(UBA1):c.1791G>A (p.Glu597=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 674444	NM_003334.4(UBA1):c.1938+60G>A	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207318	NM_003334.4(UBA1):c.1938+164C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198758	NM_003334.4(UBA1):c.1939-82C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514679	NM_003334.4(UBA1):c.2003+12G>A	UBA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 674456	NM_003334.4(UBA1):c.2004-39C>G	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368341	NM_003334.4(UBA1):c.2004-13C>T	UBA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 914298	NM_003334.4(UBA1):c.2004-12G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 2042753	NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)	UBA1 (R693C)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GUncertain significance
Select item 384433	NM_003334.4(UBA1):c.2157G>A (p.Ser719=)	UBA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1197574	NM_003334.4(UBA1):c.2200-196G>T	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194851	NM_003334.4(UBA1):c.2200-123G>T	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 368342	NM_003334.4(UBA1):c.2220G>A (p.Pro740=)	UBA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 368343	NM_003334.4(UBA1):c.2308A>C (p.Asn770His)	UBA1 (N770H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 680282	NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)	UBA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 391497	NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg)	UBA1 (G777R)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GUncertain significance
Select item 513474	NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)	UBA1 (R784Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 368344	NM_003334.4(UBA1):c.2364C>T (p.Ala788=)	UBA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1229257	NM_003334.4(UBA1):c.2465-190T>A	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 465034	NM_003334.4(UBA1):c.2595A>G (p.Ala865=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 2499902	NM_003334.4(UBA1):c.2687C>T (p.Thr896Met)	UBA1 (T896M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 674457	NM_003334.4(UBA1):c.2838+110C>T	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201218	NM_003334.4(UBA1):c.2839-121G>A	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194886	NM_003334.4(UBA1):c.2839-103A>G	UBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674458	NM_003334.4(UBA1):c.2839-75A>G	UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 705430	NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)	UBA1 (D977N)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 506925	NM_003334.4(UBA1):c.2941-14C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 1326812	NM_003334.4(UBA1):c.3085C>T (p.Arg1029Cys)	UBA1 (R1029C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318344	NM_003334.4(UBA1):c.3103G>A (p.Val1035Met)	UBA1 (V1035M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510962	NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)	UBA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 369637	NM_153280.2(UBA1):c.*203C>T	UBA1	Single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy +1 more	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 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 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 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

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