Related gene-specific medical variations for Gene (Select 7317) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068023	NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)	UBA1 (R119W)	Single nucleotide variant (missense variant)	VEXAS syndrome	GUncertain significance
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 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 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 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 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 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 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 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 2690404	NM_003334.4(UBA1):c.56C>T (p.Pro19Leu)	LOC126863253, UBA1 (P19L)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2688098	NM_003334.4(UBA1):c.1-555A>G	LOC126863253, UBA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2576122	NM_003334.4(UBA1):c.1575+5G>A	UBA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576057	NM_003334.4(UBA1):c.1939-171_1939-167del	UBA1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2438456	NM_003334.4(UBA1):c.117C>T (p.Asn39=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 2438455	NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)	UBA1 (T531M)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
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 2413032	NM_003334.4(UBA1):c.116A>T (p.Asn39Ile)	LOC126863253, UBA1 (N39I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295140	NM_003334.4(UBA1):c.113C>T (p.Thr38Ile)	LOC126863253, UBA1 (T38I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 1794033	NM_003334.4(UBA1):c.262G>A (p.Ala88Thr)	LOC126863253, UBA1 (A88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1601249	NM_003334.4(UBA1):c.177-11del	LOC126863253, UBA1	Deletion (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GBenign
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 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 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 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 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 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 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 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 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 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 1296620	NM_003334.4(UBA1):c.1-258A>G	LOC126863253, UBA1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 965290	NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	LOC126863253, UBA1 (M41T)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +3 more	GConflicting classifications of pathogenicity
Select item 931072	NM_003334.4(UBA1):c.1027C>T (p.His343Tyr)	UBA1 (H343Y)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 914750	NM_003334.4(UBA1):c.105G>A (p.Ser35=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy	GConflicting classifications of pathogenicity
Select item 914749	NM_003334.4(UBA1):c.-45C>T	LOC130068210, UBA1	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
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 836983	NM_003334.4(UBA1):c.121A>G (p.Met41Val)	LOC126863253, UBA1 (M41V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 774767	NM_003334.4(UBA1):c.84C>T (p.Ser28=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	UBA1-related disorder +1 more	GLikely benign
Select item 765024	NM_003334.4(UBA1):c.117+10C>T	LOC126863253, UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy	GLikely benign
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 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 736898	NM_003334.4(UBA1):c.108G>A (p.Val36=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 670264	NM_003334.4(UBA1):c.1576-161G>A	INE1, UBA1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
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 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 511891	NM_003334.4(UBA1):c.176+15G>A	LOC126863253, UBA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 511880	NM_003334.4(UBA1):c.132C>T (p.Asn44=)	UBA1, LOC126863253	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 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 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

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Items: 71