UBA7[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2457858	NM_003335.3(UBA7):c.2962C>T (p.Arg988Trp)	UBA7 (R988W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055060	NM_003335.3(UBA7):c.2910-9C>T	UBA7	Single nucleotide variant (intron variant)	UBA7-related disorder	GLikely benign
Select item 2540162	NM_003335.3(UBA7):c.2861A>G (p.Tyr954Cys)	UBA7 (Y954C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270430	NM_003335.3(UBA7):c.2851G>A (p.Ala951Thr)	UBA7 (A951T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471889	NM_003335.3(UBA7):c.2848T>C (p.Ser950Pro)	UBA7 (S950P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532677	NM_003335.3(UBA7):c.2767C>A (p.Gln923Lys)	UBA7 (Q923K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514139	NM_003335.3(UBA7):c.2672A>G (p.Asn891Ser)	UBA7 (N891S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281359	NM_003335.3(UBA7):c.2656C>G (p.Leu886Val)	UBA7 (L886V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782986	NM_003335.3(UBA7):c.2632C>T (p.Arg878Cys)	UBA7 (R878C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2252510	NM_003335.3(UBA7):c.2629C>T (p.Pro877Ser)	UBA7 (P877S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185407	NM_003335.3(UBA7):c.2627G>A (p.Arg876Gln)	UBA7 (R876Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398989	NM_003335.3(UBA7):c.2587C>G (p.Leu863Val)	UBA7 (L863V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275957	NM_003335.3(UBA7):c.2570C>T (p.Thr857Ile)	UBA7 (T857I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234440	NM_003335.3(UBA7):c.2545A>G (p.Ile849Val)	UBA7 (I849V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411666	NM_003335.3(UBA7):c.2531G>A (p.Arg844Gln)	UBA7 (R844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051003	NM_003335.3(UBA7):c.2516G>C (p.Arg839Pro)	UBA7 (R839P)	Single nucleotide variant (missense variant)	UBA7-related disorder	GBenign
Select item 2522337	NM_003335.3(UBA7):c.2516G>A (p.Arg839His)	UBA7 (R839H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569909	NM_003335.3(UBA7):c.2515C>T (p.Arg839Cys)	UBA7 (R839C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235732	NM_003335.3(UBA7):c.2483G>A (p.Arg828Lys)	UBA7 (R828K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780382	NM_003335.3(UBA7):c.2450A>G (p.His817Arg)	UBA7 (H817R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2604409	NM_003335.3(UBA7):c.2366A>G (p.Glu789Gly)	UBA7 (E789G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260503	NM_003335.3(UBA7):c.2350C>A (p.Pro784Thr)	UBA7 (P784T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472199	NM_003335.3(UBA7):c.2330C>T (p.Ser777Leu)	UBA7 (S777L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251758	NM_003335.3(UBA7):c.2302A>G (p.Ile768Val)	UBA7 (I768V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274299	NM_003335.3(UBA7):c.2283C>A (p.Asp761Glu)	UBA7 (D761E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545543	NM_003335.3(UBA7):c.2236G>A (p.Asp746Asn)	UBA7 (D746N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528518	NM_003335.3(UBA7):c.2230T>A (p.Ser744Thr)	UBA7 (S744T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784006	NM_003335.3(UBA7):c.2223G>T (p.Leu741=)	UBA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2468072	NM_003335.3(UBA7):c.2204A>G (p.Tyr735Cys)	UBA7 (Y735C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185406	NM_003335.3(UBA7):c.2200C>G (p.Leu734Val)	UBA7 (L734V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624102	NM_003335.3(UBA7):c.2092C>A (p.Leu698Ile)	UBA7 (L698I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981909	NM_003335.3(UBA7):c.1904+3A>G	UBA7	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 2588117	NM_003335.3(UBA7):c.1874T>C (p.Leu625Pro)	UBA7 (L625P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594156	NM_003335.3(UBA7):c.1825G>A (p.Glu609Lys)	UBA7 (E609K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454677	NM_003335.3(UBA7):c.1822G>T (p.Ala608Ser)	UBA7 (A608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185405	NM_003335.3(UBA7):c.1801G>A (p.Val601Met)	UBA7 (V601M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220046	NM_003335.3(UBA7):c.1783C>T (p.Pro595Ser)	UBA7 (P595S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185403	NM_003335.3(UBA7):c.1694C>T (p.Ser565Leu)	UBA7 (S565L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477555	NM_003335.3(UBA7):c.1672C>G (p.Pro558Ala)	UBA7 (P558A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472704	NM_003335.3(UBA7):c.1664A>G (p.Tyr555Cys)	UBA7 (Y555C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185402	NM_003335.3(UBA7):c.1652G>A (p.Arg551His)	UBA7 (R551H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351006	NM_003335.3(UBA7):c.1642G>T (p.Val548Leu)	UBA7 (V548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461568	NM_003335.3(UBA7):c.1601G>A (p.Gly534Asp)	UBA7 (G534D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457586	NM_003335.3(UBA7):c.1574G>A (p.Gly525Glu)	UBA7 (G525E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185401	NM_003335.3(UBA7):c.1573G>C (p.Gly525Arg)	UBA7 (G525R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185400	NM_003335.3(UBA7):c.1571A>G (p.Tyr524Cys)	UBA7 (Y524C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057477	NM_003335.3(UBA7):c.1536C>T (p.Leu512=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related disorder	GLikely benign
Select item 3042162	NM_003335.3(UBA7):c.1525G>A (p.Val509Met)	UBA7 (V509M)	Single nucleotide variant (missense variant)	UBA7-related disorder	GLikely benign
Select item 2467225	NM_003335.3(UBA7):c.1421G>A (p.Arg474His)	UBA7 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533000	NM_003335.3(UBA7):c.1416A>G (p.Ile472Met)	UBA7 (I472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275956	NM_003335.3(UBA7):c.1411C>T (p.His471Tyr)	UBA7 (H471Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342969	NM_003335.3(UBA7):c.1375G>A (p.Gly459Arg)	UBA7 (G459R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3055621	NM_003335.3(UBA7):c.1314G>A (p.Val438=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related disorder	GLikely benign
Select item 2635261	NM_003335.3(UBA7):c.1297C>T (p.Gln433Ter)	UBA7 (Q433*)	Single nucleotide variant (nonsense)	UBA7-related disorder	GUncertain significance
Select item 3185398	NM_003335.3(UBA7):c.1295G>A (p.Arg432His)	UBA7 (R432H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3038287	NM_003335.3(UBA7):c.1241G>A (p.Arg414His)	UBA7 (R414H)	Single nucleotide variant (missense variant)	UBA7-related disorder	GLikely benign
Select item 3057290	NM_003335.3(UBA7):c.1173C>T (p.Ala391=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related disorder	GLikely benign
Select item 2623005	NM_003335.3(UBA7):c.1115T>C (p.Val372Ala)	UBA7 (V372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222928	NM_003335.3(UBA7):c.1048G>A (p.Ala350Thr)	UBA7 (A350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185397	NM_003335.3(UBA7):c.1040G>A (p.Arg347Gln)	UBA7 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185414	NM_003335.3(UBA7):c.917G>A (p.Arg306Gln)	UBA7 (R306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292518	NM_003335.3(UBA7):c.824A>G (p.His275Arg)	UBA7 (H275R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185413	NM_003335.3(UBA7):c.778A>G (p.Lys260Glu)	UBA7 (K260E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185412	NM_003335.3(UBA7):c.736C>T (p.Arg246Trp)	UBA7 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315278	NM_003335.3(UBA7):c.692G>C (p.Arg231Pro)	UBA7 (R231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521944	NM_003335.3(UBA7):c.688G>A (p.Val230Met)	UBA7 (V230M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3185411	NM_003335.3(UBA7):c.676C>T (p.Arg226Trp)	UBA7 (R226W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557307	NM_003335.3(UBA7):c.676C>G (p.Arg226Gly)	UBA7 (R226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405730	NM_003335.3(UBA7):c.610C>T (p.Arg204Cys)	UBA7 (R204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600975	NM_003335.3(UBA7):c.478T>G (p.Cys160Gly)	UBA7 (C160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185410	NM_003335.3(UBA7):c.458G>A (p.Gly153Asp)	UBA7 (G153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207143	NM_003335.3(UBA7):c.454C>T (p.Arg152Trp)	UBA7 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033798	NM_003335.3(UBA7):c.453C>A (p.Thr151=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related disorder	GLikely benign
Select item 782242	NM_003335.3(UBA7):c.444G>A (p.Ala148=)	UBA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185409	NM_003335.3(UBA7):c.323C>T (p.Thr108Met)	UBA7 (T108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185408	NM_003335.3(UBA7):c.278A>C (p.Glu93Ala)	UBA7 (E93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057949	NM_003335.3(UBA7):c.264C>T (p.Ala88=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related disorder	GBenign
Select item 2403586	NM_003335.3(UBA7):c.208T>C (p.Ser70Pro)	UBA7 (S70P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231303	NM_003335.3(UBA7):c.190C>A (p.Pro64Thr)	UBA7 (P64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320345	NM_003335.3(UBA7):c.86G>A (p.Arg29Lys)	UBA7 (R29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398076	NM_003335.3(UBA7):c.74C>G (p.Pro25Arg)	UBA7 (P25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	CDHR4, CISH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 90