89910[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC124629404, LOC124629407 +4840 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	USP30, USP30-AS1 +316 more	Copy number loss	See cases	GPathogenic
Select item 147614	GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3	KCTD10, LOC130008716 +4 more	Copy number gain	See cases	GBenign
Select item 1235426	NM_130466.4(UBE3B):c.-89C>T	UBE3B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 242637	NM_130466.4(UBE3B):c.1A>G (p.Met1Val)	UBE3B (M1V)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2907418	NM_130466.4(UBE3B):c.12G>C (p.Leu4=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169130	NM_130466.4(UBE3B):c.24G>A (p.Ser8=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102111	NM_130466.4(UBE3B):c.25A>G (p.Arg9Gly)	UBE3B (R9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643271	NM_130466.4(UBE3B):c.30A>G (p.Ala10=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975056	NM_130466.4(UBE3B):c.39C>T (p.Ile13=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159515	NM_130466.4(UBE3B):c.40G>A (p.Asp14Asn)	UBE3B (D14N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042688	NM_130466.4(UBE3B):c.49C>T (p.Arg17Cys)	UBE3B (R17C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2037898	NM_130466.4(UBE3B):c.58C>T (p.Arg20Ter)	UBE3B (R20*)	Single nucleotide variant (nonsense)	not provided	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 2195825	NM_130466.4(UBE3B):c.85C>T (p.Arg29Trp)	UBE3B (R29W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169124	NM_130466.4(UBE3B):c.86G>A (p.Arg29Gln)	UBE3B (R29Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2110421	NM_130466.4(UBE3B):c.92G>A (p.Arg31Gln)	UBE3B (R31Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804367	NM_130466.4(UBE3B):c.112G>T (p.Ala38Ser)	UBE3B (A38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955552	NM_130466.4(UBE3B):c.122G>A (p.Arg41Gln)	UBE3B (R41Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3812907	NM_130466.4(UBE3B):c.125G>C (p.Ser42Thr)	UBE3B (S42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2040000	NM_130466.4(UBE3B):c.136C>T (p.Arg46Trp)	UBE3B (R46W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350362	NM_130466.4(UBE3B):c.143G>A (p.Arg48Gln)	UBE3B (R48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3892805	NM_130466.4(UBE3B):c.154_155dup (p.Asp52fs)	UBE3B (D52fs)	Microsatellite (frameshift variant)	Oculocerebrofacial syndrome, Kaufman type	GLikely pathogenic
Select item 1929979	NM_130466.4(UBE3B):c.156T>G (p.Asp52Glu)	UBE3B (D52E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047910	NM_130466.4(UBE3B):c.158T>C (p.Ile53Thr)	UBE3B (I53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032186	NM_130466.4(UBE3B):c.161+13A>T	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905545	NM_130466.4(UBE3B):c.161+18C>T	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187684	NM_130466.4(UBE3B):c.162-8T>C	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3465136	NM_130466.4(UBE3B):c.170T>C (p.Ile57Thr)	UBE3B (I57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185585	NM_130466.4(UBE3B):c.176A>G (p.Asp59Gly)	UBE3B (D59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2724946	NM_130466.4(UBE3B):c.189A>T (p.Ala63=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3812908	NM_130466.4(UBE3B):c.196C>A (p.Pro66Thr)	UBE3B (P66T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083396	NM_130466.4(UBE3B):c.205A>G (p.Thr69Ala)	UBE3B (T69A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3185587	NM_130466.4(UBE3B):c.208A>G (p.Lys70Glu)	UBE3B (K70E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703032	NM_130466.4(UBE3B):c.219A>C (p.Ala73=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2460899	NM_130466.4(UBE3B):c.220C>T (p.Leu74Phe)	UBE3B (L74F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244941	NM_130466.4(UBE3B):c.238G>T (p.Ala80Ser)	UBE3B (A80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2697485	NM_130466.4(UBE3B):c.252G>A (p.Leu84=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 280737	NM_130466.4(UBE3B):c.256del (p.Leu86fs)	UBE3B (L86fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734859	NM_130466.4(UBE3B):c.262del (p.Arg88fs)	UBE3B (R88fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2053211	NM_130466.4(UBE3B):c.262A>C (p.Arg88=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007610	NM_130466.4(UBE3B):c.282+7C>A	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3730598	NM_130466.4(UBE3B):c.283-18C>T	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933462	NM_130466.4(UBE3B):c.283-14G>A	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108276	NM_130466.4(UBE3B):c.288T>G (p.Phe96Leu)	UBE3B (F96L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2152587	NM_130466.4(UBE3B):c.294G>T (p.Lys98Asn)	UBE3B (K98N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245368	NM_130466.4(UBE3B):c.301C>T (p.Arg101Cys)	UBE3B (R101C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1961231	NM_130466.4(UBE3B):c.313_324del (p.Ser105_Asp108del)	UBE3B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2158818	NM_130466.4(UBE3B):c.320T>C (p.Met107Thr)	UBE3B (M107T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845127	NM_130466.4(UBE3B):c.327T>C (p.Ala109=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3465139	NM_130466.4(UBE3B):c.334G>A (p.Glu112Lys)	UBE3B (E112K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2706783	NM_130466.4(UBE3B):c.336G>A (p.Glu112=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485398	NM_130466.4(UBE3B):c.338C>T (p.Pro113Leu)	UBE3B (P113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3715092	NM_130466.4(UBE3B):c.350A>G (p.Tyr117Cys)	UBE3B (Y117C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 829809	NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter)	UBE3B (Y117*)	Single nucleotide variant (nonsense)	Oculocerebrofacial syndrome, Kaufman type +1 more	GPathogenic
Select item 2784869	NM_130466.4(UBE3B):c.358C>T (p.Leu120=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053671	NM_130466.4(UBE3B):c.365G>A (p.Cys122Tyr)	UBE3B (C122Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2958473	NM_130466.4(UBE3B):c.375C>T (p.Asp125=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057342	NM_130466.4(UBE3B):c.376C>T (p.Leu126Phe)	UBE3B (L126F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713794	NM_130466.4(UBE3B):c.380C>G (p.Thr127Ser)	UBE3B (T127S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3185595	NM_130466.4(UBE3B):c.401T>A (p.Ile134Asn)	UBE3B (I134N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3465134	NM_130466.4(UBE3B):c.410T>C (p.Ile137Thr)	UBE3B (I137T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2902062	NM_130466.4(UBE3B):c.419A>G (p.Tyr140Cys)	UBE3B (Y140C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2174513	NM_130466.4(UBE3B):c.441G>A (p.Gln147=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062537	NM_130466.4(UBE3B):c.442C>T (p.Leu148Phe)	UBE3B (L148F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701819	NM_130466.4(UBE3B):c.447+5_447+7del	UBE3B	Deletion (intron variant)	not provided	GBenign
Select item 789053	NM_130466.4(UBE3B):c.447+10_447+28dup	UBE3B	Duplication (intron variant)	not provided	GLikely benign
Select item 777237	NM_130466.4(UBE3B):c.447+22_447+28dup	UBE3B	Duplication (intron variant)	not provided	GBenign
Select item 707686	NM_130466.4(UBE3B):c.447+19_447+28dup	UBE3B	Duplication (intron variant)	not provided	GLikely benign
Select item 706586	NM_130466.4(UBE3B):c.447+20_447+28dup	UBE3B	Duplication (intron variant)	not provided	GLikely benign
Select item 218833	NM_130466.4(UBE3B):c.447+5C>A	UBE3B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2053160	NM_130466.4(UBE3B):c.448-17G>A	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533006	NM_130466.4(UBE3B):c.448-15G>A	UBE3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2764005	NM_130466.4(UBE3B):c.448-10T>C	UBE3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901932	NM_130466.4(UBE3B):c.469C>T (p.Arg157Ter)	UBE3B (R157*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2159421	NM_130466.4(UBE3B):c.469C>A (p.Arg157=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961503	NM_130466.4(UBE3B):c.478A>G (p.Thr160Ala)	UBE3B (T160A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3721647	NM_130466.4(UBE3B):c.481C>T (p.Leu161=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956002	NM_130466.4(UBE3B):c.492G>A (p.Thr164=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789550	NM_130466.4(UBE3B):c.493A>T (p.Met165Leu)	UBE3B (M165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3185596	NM_130466.4(UBE3B):c.520A>G (p.Thr174Ala)	UBE3B (T174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2056891	NM_130466.4(UBE3B):c.522G>A (p.Thr174=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185597	NM_130466.4(UBE3B):c.535C>T (p.Arg179Trp)	UBE3B (R179W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195132	NM_130466.4(UBE3B):c.536G>A (p.Arg179Gln)	UBE3B (R179Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3658504	NM_130466.4(UBE3B):c.537G>A (p.Arg179=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931137	NM_130466.4(UBE3B):c.545-6_545-3del	UBE3B	Microsatellite (intron variant)	not provided	GLikely benign
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 3026248	NM_130466.4(UBE3B):c.551G>C (p.Ser184Thr)	UBE3B (S184T)	Single nucleotide variant (missense variant)	not provided	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 2116127	NM_130466.4(UBE3B):c.574A>G (p.Ile192Val)	UBE3B (I192V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740550	NM_130466.4(UBE3B):c.585T>C (p.Asn195=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900157	NM_130466.4(UBE3B):c.609T>C (p.His203=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616028	NM_130466.4(UBE3B):c.622G>A (p.Val208Met)	UBE3B (V208M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703033	NM_130466.4(UBE3B):c.627G>C (p.Leu209=)	UBE3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3003300	NM_130466.4(UBE3B):c.630+20del	UBE3B	Deletion (intron variant)	not provided	GBenign
Select item 1656216	NM_130466.4(UBE3B):c.630+18C>A	UBE3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2724121	NM_130466.4(UBE3B):c.630+19C>A	UBE3B	Single nucleotide variant (intron variant)	not provided	GBenign

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