ClinVar for MedGen (Select 343403) - ClinVar

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Items: 40

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25725701.	NM_130466.4(UBE3B):c.739_742del (p.Asp247fs) GRCh37: Chr12:109935646-109935649 GRCh38: Chr12:109497841-109497844	UBE3B	D247fs	Oculocerebrofacial syndrome, Kaufman type	Pathogenic	criteria provided, single submitter
Select item 24440402.	NM_130466.4(UBE3B):c.2569-1G>C GRCh37: Chr12:109964162 GRCh38: Chr12:109526357	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24384613.	NM_130466.4(UBE3B):c.1811G>A (p.Arg604Gln) GRCh37: Chr12:109948218 GRCh38: Chr12:109510413	UBE3B	R604Q	Oculocerebrofacial syndrome, Kaufman type	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 24128024.	NM_130466.4(UBE3B):c.1957-1G>A GRCh37: Chr12:109954569 GRCh38: Chr12:109516764	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Dec 28, 2022)	criteria provided, single submitter
Select item 18060255.	NM_130466.4(UBE3B):c.2519T>C (p.Ile840Thr) GRCh37: Chr12:109962259 GRCh38: Chr12:109524454	UBE3B	I840T	Oculocerebrofacial syndrome, Kaufman type, not provided, Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18060246.	NM_130466.4(UBE3B):c.1507G>A (p.Gly503Arg) GRCh37: Chr12:109945425 GRCh38: Chr12:109507620	UBE3B	G503R	Oculocerebrofacial syndrome, Kaufman type	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 17102517.	NM_130466.4(UBE3B):c.2547C>A (p.Tyr849Ter) GRCh37: Chr12:109962287 GRCh38: Chr12:109524482	UBE3B	Y849*	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (May 2, 2022)	no assertion criteria provided
Select item 16910908.	NM_130466.4(UBE3B):c.2098C>T (p.Gln700Ter) GRCh37: Chr12:109958974 GRCh38: Chr12:109521169	UBE3B	Q700*	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Jun 3, 2022)	no assertion criteria provided
Select item 16910899.	NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg) GRCh37: Chr12:109959327 GRCh38: Chr12:109521522	UBE3B	G779R	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Jun 3, 2022)	no assertion criteria provided
Select item 169108810.	NM_130466.4(UBE3B):c.[1445T>A;1616T>C] GRCh37: Chr12:109940990 Chr12:109945534 GRCh38: Chr12:109503185 Chr12:109507729	UBE3B, UBE3B	L482H, L539P	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Jun 3, 2022)	no assertion criteria provided
Select item 168427011.	NM_130466.4(UBE3B):c.3014A>C (p.Gln1005Pro) GRCh37: Chr12:109971362 GRCh38: Chr12:109533557	UBE3B	Q1005P	Oculocerebrofacial syndrome, Kaufman type	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 168426912.	NM_130466.4(UBE3B):c.2624dup (p.Asn875fs) GRCh37: Chr12:109964214-109964215 GRCh38: Chr12:109526409-109526410	UBE3B	N875fs	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 168378513.	NM_130466.4(UBE3B):c.2061del (p.Ser688fs) GRCh37: Chr12:109954673 GRCh38: Chr12:109516868	UBE3B	S688fs	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 167684114.	NM_130466.4(UBE3B):c.3065_3078delinsC (p.Arg1022fs) GRCh37: Chr12:109972445-109972458 GRCh38: Chr12:109534640-109534653	UBE3B	R1022fs	Oculocerebrofacial syndrome, Kaufman type	Pathogenic	criteria provided, single submitter
Select item 160061315.	NM_130466.4(UBE3B):c.1037G>A (p.Arg346Gln) GRCh37: Chr12:109937534 GRCh38: Chr12:109499729	UBE3B	R346Q	Oculocerebrofacial syndrome, Kaufman type, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132373416.	NM_130466.4(UBE3B):c.343-1G>A GRCh37: Chr12:109924275 GRCh38: Chr12:109486470	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Dec 11, 2019)	criteria provided, single submitter
Select item 132373317.	NM_130466.4(UBE3B):c.2302del (p.His768fs) GRCh37: Chr12:109959293 GRCh38: Chr12:109521488	UBE3B	H768fs	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (May 21, 2019)	criteria provided, single submitter
Select item 103237618.	NM_130466.4(UBE3B):c.3046C>T (p.Arg1016Trp) GRCh37: Chr12:109972426 GRCh38: Chr12:109534621	UBE3B	R1016W	Oculocerebrofacial syndrome, Kaufman type, not provided	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103237519.	NM_130466.4(UBE3B):c.2228_2229del (p.Val742_Phe743insTer) GRCh37: Chr12:109959101-109959102 GRCh38: Chr12:109521296-109521297	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Sep 10, 2018)	criteria provided, single submitter
Select item 102854620.	NM_130466.4(UBE3B):c.893G>A (p.Arg298His) GRCh37: Chr12:109936111 GRCh38: Chr12:109498306	UBE3B	R298H	Oculocerebrofacial syndrome, Kaufman type, Inborn genetic diseases	Uncertain significance (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102854521.	NM_130466.4(UBE3B):c.3015+4C>T GRCh37: Chr12:109971367 GRCh38: Chr12:109533562	UBE3B		Oculocerebrofacial syndrome, Kaufman type, Inborn genetic diseases, not provided	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98470822.	NM_130466.4(UBE3B):c.1616T>C (p.Leu539Pro) GRCh37: Chr12:109945534 GRCh38: Chr12:109507729	UBE3B	L539P	Oculocerebrofacial syndrome, Kaufman type	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 98470723.	NM_130466.4(UBE3B):c.1445T>A (p.Leu482His) GRCh37: Chr12:109940990 GRCh38: Chr12:109503185	UBE3B	L482H	Oculocerebrofacial syndrome, Kaufman type	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 93211424.	NM_130466.4(UBE3B):c.1166G>T (p.Trp389Leu) GRCh37: Chr12:109939223 GRCh38: Chr12:109501418	UBE3B	W389L	Oculocerebrofacial syndrome, Kaufman type	Uncertain significance (Aug 14, 2019)	criteria provided, single submitter
Select item 87013625.	NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter) GRCh37: Chr12:109927735 GRCh38: Chr12:109489930	UBE3B	R186*	Oculocerebrofacial syndrome, Kaufman type	Pathogenic	no assertion criteria provided
Select item 82980926.	NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter) GRCh37: Chr12:109924284 GRCh38: Chr12:109486479	UBE3B	Y117*	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Oct 23, 2019)	criteria provided, single submitter
Select item 82980827.	NM_130466.4(UBE3B):c.2172dup (p.Ile725fs) GRCh37: Chr12:109959045-109959046 GRCh38: Chr12:109521240-109521241	UBE3B	I725fs	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80288928.	NM_130466.4(UBE3B):c.2923-1G>T GRCh37: Chr12:109971270 GRCh38: Chr12:109533465	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 66633429.	NM_130466.4(UBE3B):c.2681dup (p.Asn894fs) GRCh37: Chr12:109967742-109967743 GRCh38: Chr12:109529937-109529938	UBE3B	N894fs	Oculocerebrofacial syndrome, Kaufman type	Likely pathogenic (Jan 4, 2016)	criteria provided, single submitter
Select item 52155830.	NM_130466.4(UBE3B):c.1956+1G>A GRCh37: Chr12:109949109 GRCh38: Chr12:109511304	UBE3B		Oculocerebrofacial syndrome, Kaufman type, not provided, Inborn genetic diseases	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50415331.	NM_130466.4(UBE3B):c.1852C>T (p.Arg618Ter) GRCh37: Chr12:109948259 GRCh38: Chr12:109510454	UBE3B	R618*	not provided	Likely pathogenic (Jan 26, 2018)	criteria provided, single submitter
Select item 49668832.	NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr) GRCh37: Chr12:109971310 GRCh38: Chr12:109533505	UBE3B	A988T	Optic nerve hypoplasia, Oculocerebrofacial syndrome, Kaufman type	Conflicting interpretations of pathogenicity (Mar 28, 2019)	criteria provided, conflicting interpretations
Select item 48863133.	NM_130466.4(UBE3B):c.2568+1G>A GRCh37: Chr12:109962309 GRCh38: Chr12:109524504	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Nov 8, 2017)	criteria provided, single submitter
Select item 42798434.	NM_130466.3(UBE3B):c.[1773delC];[1A>G]			Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Apr 4, 2014)	no assertion criteria provided
Select item 22504135.	NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter) GRCh37: Chr12:109921417 GRCh38: Chr12:109483612	UBE3B	E21*	Oculocerebrofacial syndrome, Kaufman type, Inborn genetic diseases, not provided	Pathogenic (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20872936.	NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro) GRCh37: Chr12:109971338 GRCh38: Chr12:109533533	UBE3B	R997P	Oculocerebrofacial syndrome, Kaufman type, Inborn genetic diseases	Pathogenic/Likely pathogenic (Nov 8, 2017)	criteria provided, multiple submitters, no conflicts
Select item 5023737.	NM_130466.4(UBE3B):c.2180A>C (p.Gln727Pro) GRCh37: Chr12:109959056 GRCh38: Chr12:109521251	UBE3B	Q727P	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Dec 7, 2012)	no assertion criteria provided
Select item 5023638.	NM_130466.4(UBE3B):c.545-2A>G GRCh37: Chr12:109927722 GRCh38: Chr12:109489917	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Dec 7, 2012)	no assertion criteria provided
Select item 5023539.	NM_130466.4(UBE3B):c.2223_2224del (p.Arg741fs) GRCh37: Chr12:109959095-109959096 GRCh38: Chr12:109521290-109521291	UBE3B	R741fs	Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Dec 7, 2012)	no assertion criteria provided
Select item 5023440.	NM_130466.4(UBE3B):c.1741+2T>C GRCh37: Chr12:109947521 GRCh38: Chr12:109509716	UBE3B		Oculocerebrofacial syndrome, Kaufman type	Pathogenic (Dec 7, 2012)	no assertion criteria provided

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Items: 40