"Ambry Genetics"[submitter] AND "UPB1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028017	NM_016327.3(UPB1):c.38T>C (p.Leu13Ser)	UPB1 (L13S)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +2 more	GConflicting classifications of pathogenicity
Select item 3186756	NM_016327.3(UPB1):c.41A>G (p.Glu14Gly)	UPB1 (E14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076935	NM_016327.3(UPB1):c.62A>T (p.Asp21Val)	UPB1 (D21V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 4147	NM_016327.3(UPB1):c.105-2A>G	UPB1	Single nucleotide variant (splice acceptor variant)	Deficiency of beta-ureidopropionase +2 more	GPathogenic/Likely pathogenic
Select item 2492273	NM_016327.3(UPB1):c.133G>A (p.Glu45Lys)	UPB1 (E45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544240	NM_016327.3(UPB1):c.206C>G (p.Pro69Arg)	UPB1 (P69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899599	NM_016327.3(UPB1):c.208C>T (p.Arg70Cys)	UPB1 (R70C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3331129	NM_016327.3(UPB1):c.286C>A (p.Leu96Ile)	UPB1 (L96I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601133	NM_016327.3(UPB1):c.303G>C (p.Lys101Asn)	UPB1 (K101N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 903160	NM_016327.3(UPB1):c.310G>A (p.Val104Ile)	UPB1 (V104I)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GConflicting classifications of pathogenicity
Select item 3186754	NM_016327.3(UPB1):c.325A>G (p.Met109Val)	UPB1 (M109V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388836	NM_016327.3(UPB1):c.398T>G (p.Leu133Arg)	UPB1 (L133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236563	NM_016327.3(UPB1):c.464C>G (p.Ala155Gly)	UPB1 (A155G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557161	NM_016327.3(UPB1):c.488T>C (p.Val163Ala)	UPB1 (V163A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899688	NM_016327.3(UPB1):c.539C>T (p.Thr180Ile)	UPB1 (T180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264247	NM_016327.3(UPB1):c.641del (p.Gly214fs)	UPB1 (G214fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2216815	NM_016327.3(UPB1):c.675C>G (p.Phe225Leu)	UPB1 (F225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342512	NM_016327.3(UPB1):c.732G>A (p.Met244Ile)	UPB1 (M244I)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase +1 more	GUncertain significance
Select item 3186757	NM_016327.3(UPB1):c.757A>G (p.Ile253Val)	UPB1 (I253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191345	NM_016327.3(UPB1):c.863G>A (p.Arg288Gln)	UPB1 (R288Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445946	NM_016327.3(UPB1):c.917-1G>A	UPB1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2595306	NM_016327.3(UPB1):c.994C>T (p.Arg332Cys)	UPB1 (R332C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2168690	NM_016327.3(UPB1):c.1000C>T (p.Arg334Trp)	UPB1 (R334W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2338718	NM_016327.3(UPB1):c.1097C>T (p.Ala366Val)	UPB1 (A366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208474	NM_016327.3(UPB1):c.1108G>A (p.Ala370Thr)	LOC130067121, UPB1 (A370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331130	NM_016327.3(UPB1):c.1111G>A (p.Glu371Lys)	LOC130067121, UPB1 (E371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26