ClinVar for MedGen (Select 343403) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064816	NM_130466.4(UBE3B):c.630+1G>T	UBE3B	Single nucleotide variant (splice donor variant)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
Select item 3062052	NM_130466.4(UBE3B):c.518C>A (p.Ser173Ter)	UBE3B (S173*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 2585015	NM_130466.4(UBE3B):c.2545del (p.Tyr849fs)	UBE3B (Y849fs)	Deletion (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
Select item 2584411	NM_130466.4(UBE3B):c.1972C>T (p.Arg658Ter)	UBE3B (R658*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
Select item 2584410	NM_130466.4(UBE3B):c.1615dup (p.Leu539fs)	UBE3B (L539fs)	Duplication (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
Select item 2572570	NM_130466.4(UBE3B):c.739_742del (p.Asp247fs)	UBE3B (D247fs)	Deletion (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 2444040	NM_130466.4(UBE3B):c.2569-1G>C	UBE3B	Single nucleotide variant (splice acceptor variant)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
Select item 2438461	NM_130466.4(UBE3B):c.1811G>A (p.Arg604Gln)	UBE3B (R604Q)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GUncertain significance
Select item 2412802	NM_130466.4(UBE3B):c.1957-1G>A	UBE3B	Single nucleotide variant (splice acceptor variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1806025	NM_130466.4(UBE3B):c.2519T>C (p.Ile840Thr)	UBE3B (I840T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1806024	NM_130466.4(UBE3B):c.1507G>A (p.Gly503Arg)	UBE3B (G503R)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GUncertain significance
Select item 1710251	NM_130466.4(UBE3B):c.2547C>A (p.Tyr849Ter)	UBE3B (Y849*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1691090	NM_130466.4(UBE3B):c.2098C>T (p.Gln700Ter)	UBE3B (Q700*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1691089	NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg)	UBE3B (G779R)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1691088	NM_130466.4(UBE3B):c.[1445T>A;1616T>C]	UBE3B (L482H +1 more)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1684270	NM_130466.4(UBE3B):c.3014A>C (p.Gln1005Pro)	UBE3B (Q1005P)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GUncertain significance
Select item 1684269	NM_130466.4(UBE3B):c.2624dup (p.Asn875fs)	UBE3B (N875fs)	Duplication (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1683785	NM_130466.4(UBE3B):c.2061del (p.Ser688fs)	UBE3B (S688fs)	Deletion (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1676841	NM_130466.4(UBE3B):c.3065_3078delinsC (p.Arg1022fs)	UBE3B (R1022fs)	Indel (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1600613	NM_130466.4(UBE3B):c.1037G>A (p.Arg346Gln)	UBE3B (R346Q)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type +1 more	GBenign
Select item 1323734	NM_130466.4(UBE3B):c.343-1G>A	UBE3B	Single nucleotide variant (splice acceptor variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1323733	NM_130466.4(UBE3B):c.2302del (p.His768fs)	UBE3B (H768fs)	Deletion (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1032376	NM_130466.4(UBE3B):c.3046C>T (p.Arg1016Trp)	UBE3B (R1016W)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type +1 more	GUncertain significance
Select item 1032375	NM_130466.4(UBE3B):c.2228_2229del (p.Val742_Phe743insTer)	UBE3B	Deletion (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 1028546	NM_130466.4(UBE3B):c.893G>A (p.Arg298His)	UBE3B (R298H)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type +1 more	GUncertain significance
Select item 1028545	NM_130466.4(UBE3B):c.3015+4C>T	UBE3B	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 984708	NM_130466.4(UBE3B):c.1616T>C (p.Leu539Pro)	UBE3B (L539P)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GUncertain significance
Select item 984707	NM_130466.4(UBE3B):c.1445T>A (p.Leu482His)	UBE3B (L482H)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GUncertain significance
Select item 932114	NM_130466.4(UBE3B):c.1166G>T (p.Trp389Leu)	UBE3B (W389L)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GUncertain significance
Select item 870136	NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter)	UBE3B (R186*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 829809	NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter)	UBE3B (Y117*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 829808	NM_130466.4(UBE3B):c.2172dup (p.Ile725fs)	UBE3B (I725fs)	Duplication (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 802889	NM_130466.4(UBE3B):c.2923-1G>T	UBE3B	Single nucleotide variant (splice acceptor variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 666334	NM_130466.4(UBE3B):c.2681dup (p.Asn894fs)	UBE3B (N894fs)	Duplication (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
Select item 521558	NM_130466.4(UBE3B):c.1956+1G>A	UBE3B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 504153	NM_130466.4(UBE3B):c.1852C>T (p.Arg618Ter)	UBE3B (R618*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 496688	NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr)	UBE3B (A988T)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 488631	NM_130466.4(UBE3B):c.2568+1G>A	UBE3B	Single nucleotide variant (splice donor variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 427984	NM_130466.3(UBE3B):c.[1773delC];[1A>G]			Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 225041	NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter)	UBE3B (E21*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 208729	NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro)	UBE3B (R997P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 191280	NM_130466.4(UBE3B):c.1689CTC[1] (p.Ser565del)	UBE3B (S565del)	Microsatellite (inframe_deletion)	Oculocerebrofacial syndrome, Kaufman type +1 more	GConflicting classifications of pathogenicity
Select item 50237	NM_130466.4(UBE3B):c.2180A>C (p.Gln727Pro)	UBE3B (Q727P)	Single nucleotide variant (missense variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 50236	NM_130466.4(UBE3B):c.545-2A>G	UBE3B	Single nucleotide variant (splice acceptor variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 50235	NM_130466.4(UBE3B):c.2223_2224del (p.Arg741fs)	UBE3B (R741fs)	Microsatellite (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic
Select item 50234	NM_130466.4(UBE3B):c.1741+2T>C	UBE3B	Single nucleotide variant (splice donor variant)	Oculocerebrofacial syndrome, Kaufman type	GPathogenic

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Items: 46