"Ambry Genetics"[submitter] AND "UBA2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985243	NM_005499.3(UBA2):c.1A>G (p.Met1Val)	LOC130064190, UBA2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2346623	NM_005499.3(UBA2):c.11C>G (p.Ser4Trp)	LOC130064190, UBA2 (S4W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339120	NM_005499.3(UBA2):c.31C>A (p.Leu11Met)	LOC130064190, UBA2 (L11M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337663	NM_005499.3(UBA2):c.40G>A (p.Ala14Thr)	LOC130064190, UBA2 (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516307	NM_005499.3(UBA2):c.52_58del (p.Gly18fs)	LOC130064190, UBA2 (G18fs)	Microsatellite (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 3330483	NM_005499.3(UBA2):c.131T>C (p.Ile44Thr)	LOC130064191, UBA2 (I44T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472715	NM_005499.3(UBA2):c.141T>G (p.Ile47Met)	UBA2 (I47M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292029	NM_005499.3(UBA2):c.294C>T (p.Asn98=)	UBA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2405620	NM_005499.3(UBA2):c.361G>A (p.Ala121Thr)	UBA2 (A25T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313857	NM_005499.3(UBA2):c.500A>G (p.Gln167Arg)	UBA2 (Q167R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544851	NM_005499.3(UBA2):c.743G>T (p.Gly248Val)	UBA2 (G248V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185374	NM_005499.3(UBA2):c.787A>G (p.Ile263Val)	UBA2 (I263V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521193	NM_005499.3(UBA2):c.816_817del (p.Trp273fs)	UBA2 (W273fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2521911	NM_005499.3(UBA2):c.820C>T (p.Arg274Trp)	UBA2 (R274W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397106	NM_005499.3(UBA2):c.876A>C (p.Glu292Asp)	UBA2 (E292D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285922	NM_005499.3(UBA2):c.880A>C (p.Thr294Pro)	UBA2 (T294P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382749	NM_005499.3(UBA2):c.887C>T (p.Ala296Val)	UBA2 (A200V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298456	NM_005499.3(UBA2):c.995A>G (p.His332Arg)	UBA2 (H332R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490274	NM_005499.3(UBA2):c.1159A>G (p.Ile387Val)	UBA2 (I387V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330484	NM_005499.3(UBA2):c.1234C>G (p.Gln412Glu)	UBA2 (Q316E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305075	NM_005499.3(UBA2):c.1375G>A (p.Val459Met)	UBA2 (V363M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552926	NM_005499.3(UBA2):c.1378A>T (p.Thr460Ser)	UBA2 (T460S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524099	NM_005499.3(UBA2):c.1401G>C (p.Lys467Asn)	UBA2 (K371N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330482	NM_005499.3(UBA2):c.1402A>C (p.Ile468Leu)	UBA2 (I372L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485147	NM_005499.3(UBA2):c.1541G>A (p.Gly514Asp)	UBA2 (G418D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306873	NM_005499.3(UBA2):c.1690A>G (p.Lys564Glu)	UBA2 (K564E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26