ClinVar for MedGen (Select 343403) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233333	NM_130466.4(UBE3B):c.1924C>T (p.Gln642Ter)	UBE3B (Q642*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
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)	not provided +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)	Oculocerebrofacial syndrome, Kaufman type +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 817523	NM_130466.4(UBE3B):c.730C>T (p.Gln244Ter)	UBE3B (Q244*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type +1 more	GLikely pathogenic
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)	not provided +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	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 48