"Ambry Genetics"[submitter] AND "UBA5"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373169	NM_032169.5(ACAD11):c.46C>T (p.Pro16Ser)	ACAD11, NPHP3-ACAD11 +1 more (P16S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2211917	NM_032169.5(ACAD11):c.28G>A (p.Asp10Asn)	ACAD11, NPHP3-ACAD11 +1 more (D10N)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2490737	NM_024818.6(UBA5):c.91G>T (p.Gly31Cys)	NPHP3-ACAD11, UBA5 (G31C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2530995	NM_024818.6(UBA5):c.115C>T (p.Arg39Cys)	LOC129937585, NPHP3-ACAD11 +1 more (R39C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 985921	NM_024818.6(UBA5):c.129_130insGG (p.Ser44fs)	LOC129937585, NPHP3-ACAD11 +1 more (S44fs)	Insertion (5 prime UTR variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 2619582	NM_024818.6(UBA5):c.203A>C (p.Tyr68Ser)	NPHP3-ACAD11, UBA5 (Y12S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1407487	NM_024818.6(UBA5):c.277A>G (p.Thr93Ala)	NPHP3-ACAD11, UBA5 (T93A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2276539	NM_024818.6(UBA5):c.440A>G (p.His147Arg)	NPHP3-ACAD11, UBA5 (H35R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377113	NM_024818.6(UBA5):c.563G>A (p.Arg188Gln)	NPHP3-ACAD11, UBA5 (R132Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1462872	NM_024818.6(UBA5):c.575A>G (p.Asn192Ser)	NPHP3-ACAD11, UBA5 (N192S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 985922	NM_024818.6(UBA5):c.638C>T (p.Ser213Leu)	NPHP3-ACAD11, UBA5 (S101L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3185379	NM_024818.6(UBA5):c.694C>T (p.Pro232Ser)	NPHP3-ACAD11, UBA5 (P176S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532762	NM_024818.6(UBA5):c.710C>T (p.Ala237Val)	NPHP3-ACAD11, UBA5 (A125V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330487	NM_024818.6(UBA5):c.772A>G (p.Met258Val)	NPHP3-ACAD11, UBA5 (M168V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347116	NM_024818.6(UBA5):c.862A>G (p.Met288Val)	NPHP3-ACAD11, UBA5 (M198V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1367187	NM_024818.6(UBA5):c.895C>T (p.Pro299Ser)	NPHP3-ACAD11, UBA5 (P299S +3 more)	Single nucleotide variant (missense variant)	UBA5-related disorder +2 more	GUncertain significance
Select item 1411090	NM_024818.6(UBA5):c.942A>T (p.Glu314Asp)	NPHP3-ACAD11, UBA5 (E258D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1413284	NM_024818.6(UBA5):c.1061T>A (p.Leu354Gln)	NPHP3-ACAD11, UBA5 (L264Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3185378	NM_024818.6(UBA5):c.1068T>G (p.Asn356Lys)	NPHP3-ACAD11, UBA5 (N244K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231645	NM_024818.6(UBA5):c.1214A>T (p.Ter405Leu)	NPHP3-ACAD11, UBA5	Single nucleotide variant (stop lost)	Inborn genetic diseases	GUncertain significance

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Items: 20