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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2993832	NM_003334.4(UBA1):c.15G>A (p.Pro5=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 1424507	NM_003334.4(UBA1):c.31C>T (p.Arg11Cys)	LOC126863253, UBA1 (R11C)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1435307	NM_003334.4(UBA1):c.34G>T (p.Val12Leu)	LOC126863253, UBA1 (V12L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 790417	NM_003334.4(UBA1):c.39C>T (p.Ser13=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 2080284	NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)	LOC126863253, UBA1 (K18N)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2080124	NM_003334.4(UBA1):c.57G>A (p.Pro19=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1943973	NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)	LOC126863253, UBA1 (N22D)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1939806	NM_003334.4(UBA1):c.72C>T (p.Ser24=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2718074	NM_003334.4(UBA1):c.75T>G (p.Pro25=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2785221	NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)	LOC126863253, UBA1 (A26T)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 774767	NM_003334.4(UBA1):c.84C>T (p.Ser28=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	UBA1-related condition +1 more	GLikely benign
Select item 1383476	NM_003334.4(UBA1):c.85G>A (p.Val29Met)	LOC126863253, UBA1 (V29M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2067822	NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)	LOC126863253, UBA1 (S31C)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1078709	NM_003334.4(UBA1):c.93C>T (p.Ser31=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1166449	NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)	LOC126863253, UBA1 (E32K)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 852376	NM_003334.4(UBA1):c.97G>A (p.Val33Met)	LOC126863253, UBA1 (V33M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 640059	NM_003334.4(UBA1):c.106G>A (p.Val36Met)	LOC126863253, UBA1 (V36M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 736898	NM_003334.4(UBA1):c.108G>A (p.Val36=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 765024	NM_003334.4(UBA1):c.117+10C>T	UBA1, LOC126863253	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1642017	NM_003334.4(UBA1):c.117+15C>T	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1600925	NM_003334.4(UBA1):c.117+16G>A	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 1352563	NM_003334.4(UBA1):c.118-11_118-3del	LOC126863253, UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2783554	NM_003334.4(UBA1):c.118-10C>G	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 738202	NM_003334.4(UBA1):c.118-10C>T	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1436581	NM_003334.4(UBA1):c.118-2A>C	LOC126863253, UBA1	Single nucleotide variant (splice acceptor variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1298353	NM_003334.4(UBA1):c.118-1G>C	LOC126863253, UBA1	Single nucleotide variant (splice acceptor variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 981654	NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	LOC126863253, UBA1 (M41L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +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)	VEXAS syndrome +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)	not provided +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 specified +3 more	GBenign/Likely benign
Select item 2418337	NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)	LOC126863253, UBA1 (G45S)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 739961	NM_003334.4(UBA1):c.147C>T (p.Asp49=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2845926	NM_003334.4(UBA1):c.153C>T (p.Asp51=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1298352	NM_003334.4(UBA1):c.167C>T (p.Ser56Phe)	LOC126863253, UBA1	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1558324	NM_003334.4(UBA1):c.176+13A>G	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
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 2019633	NM_003334.4(UBA1):c.177-13C>T	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 1601249	NM_003334.4(UBA1):c.177-11del	LOC126863253, UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 1040883	NM_003334.4(UBA1):c.195G>C (p.Glu65Asp)	LOC126863253, UBA1 (E65D)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2842330	NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)	LOC126863253, UBA1 (R69W)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 506924	NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)	LOC126863253, UBA1 (R69Q)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 533618	NM_003334.4(UBA1):c.210C>T (p.Leu70=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 1129719	NM_003334.4(UBA1):c.231A>G (p.Val77=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1006955	NM_003334.4(UBA1):c.241C>T (p.Arg81Trp)	LOC126863253, UBA1 (R81W)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1465397	NM_003334.4(UBA1):c.242G>A (p.Arg81Gln)	LOC126863253, UBA1 (R81Q)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 681846	NM_003334.4(UBA1):c.246C>T (p.Gly82=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1168624	NM_003334.4(UBA1):c.253G>A (p.Val85Met)	LOC126863253, UBA1 (V85M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 1958635	NM_003334.4(UBA1):c.261C>T (p.Ile87=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 2972834	NM_003334.4(UBA1):c.264T>C (p.Ala88=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1082799	NM_003334.4(UBA1):c.303A>G (p.Leu101=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 796811	NM_003334.4(UBA1):c.330T>G (p.Ala110=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1091468	NM_003334.4(UBA1):c.334C>T (p.Leu112Phe)	LOC126863253, UBA1 (L112F)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2809570	NM_003334.4(UBA1):c.345+11C>T	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2069818	NM_003334.4(UBA1):c.345+20_345+23del	UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2730417	NM_003334.4(UBA1):c.345+20T>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2695085	NM_003334.4(UBA1):c.345+29_345+36del	UBA1	Microsatellite (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1938905	NM_003334.4(UBA1):c.346-16C>T	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1119054	NM_003334.4(UBA1):c.346-10A>C	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 533622	NM_003334.4(UBA1):c.346-3C>A	UBA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2421555	NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)	UBA1 (F116C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 368328	NM_003334.4(UBA1):c.351C>T (p.Tyr117=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 1507385	NM_003334.4(UBA1):c.356G>A (p.Arg119Gln)	UBA1 (R119Q)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 706383	NM_003334.4(UBA1):c.360G>A (p.Glu120=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1733857	NM_003334.4(UBA1):c.367A>G (p.Ile123Val)	UBA1 (I123V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 758759	NM_003334.4(UBA1):c.369C>T (p.Ile123=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1395038	NM_003334.4(UBA1):c.370G>A (p.Gly124Ser)	UBA1 (G124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1426909	NM_003334.4(UBA1):c.377A>G (p.Asn126Ser)	UBA1 (N126S)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2853909	NM_003334.4(UBA1):c.384C>T (p.Ala128=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1097094	NM_003334.4(UBA1):c.384C>G (p.Ala128=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 533621	NM_003334.4(UBA1):c.388G>C (p.Val130Leu)	UBA1 (V130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1966899	NM_003334.4(UBA1):c.405C>T (p.Leu135=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2887412	NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)	UBA1 (A136T)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 955348	NM_003334.4(UBA1):c.406G>T (p.Ala136Ser)	UBA1 (A136S)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 515704	NM_003334.4(UBA1):c.411G>A (p.Glu137=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 513445	NM_003334.4(UBA1):c.423T>C (p.Tyr141=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 368329	NM_003334.4(UBA1):c.430G>A (p.Val144Ile)	UBA1 (V144I)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 1047097	NM_003334.4(UBA1):c.436G>A (p.Ala146Thr)	UBA1 (A146T)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 533615	NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)	UBA1 (T148A)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 1951261	NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)	UBA1 (P150S)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 792609	NM_003334.4(UBA1):c.453C>T (p.Leu151=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 1913689	NM_003334.4(UBA1):c.454G>A (p.Val152Ile)	UBA1 (V152I)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 733168	NM_003334.4(UBA1):c.465C>T (p.Phe155=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2117704	NM_003334.4(UBA1):c.480+9G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 513712	NM_003334.4(UBA1):c.480+19C>G	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 2799852	NM_003334.4(UBA1):c.484G>T (p.Val162Leu)	UBA1 (V162L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 771239	NM_003334.4(UBA1):c.486G>A (p.Val162=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
Select item 949877	NM_003334.4(UBA1):c.499A>G (p.Thr167Ala)	UBA1 (T167A)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GUncertain significance
Select item 951129	NM_003334.4(UBA1):c.500C>T (p.Thr167Ile)	UBA1 (T167I)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1531944	NM_003334.4(UBA1):c.501C>T (p.Thr167=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2690486	NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)	UBA1 (P168S)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign/Likely benign
Select item 2904177	NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)	UBA1 (P168L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1490238	NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)	UBA1 (R174Q)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GUncertain significance
Select item 754693	NM_003334.4(UBA1):c.540C>T (p.His180=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 2968676	NM_003334.4(UBA1):c.545G>A (p.Arg182His)	UBA1 (R182H)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 659059	NM_003334.4(UBA1):c.559G>T (p.Val187Leu)	UBA1 (V187L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2960334	NM_003334.4(UBA1):c.572C>T (p.Thr191Met)	UBA1 (T191M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1120407	NM_003334.4(UBA1):c.573G>A (p.Thr191=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
Select item 533611	NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)	UBA1 (R192W)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 465036	NM_003334.4(UBA1):c.574C>A (p.Arg192=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GLikely benign

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