UBE3D[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 2465676	NM_198920.3(UBE3D):c.1163A>C (p.Lys388Thr)	UBE3D (K201T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330604	NM_198920.3(UBE3D):c.1133G>A (p.Arg378His)	UBE3D (R191H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2356760	NM_198920.3(UBE3D):c.1132C>T (p.Arg378Cys)	UBE3D (R346C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283120	NM_198920.3(UBE3D):c.1130G>A (p.Arg377His)	UBE3D (R345H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254049	NM_198920.3(UBE3D):c.1057C>G (p.Leu353Val)	UBE3D (L166V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389202	NM_198920.3(UBE3D):c.950G>T (p.Ser317Ile)	UBE3D (S285I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185614	NM_198920.3(UBE3D):c.943G>A (p.Asp315Asn)	UBE3D (D315N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361227	NM_198920.3(UBE3D):c.931A>G (p.Thr311Ala)	UBE3D (T279A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599060	NM_198920.3(UBE3D):c.914T>A (p.Phe305Tyr)	UBE3D (F118Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276823	NM_198920.3(UBE3D):c.845T>G (p.Leu282Trp)	UBE3D (L250W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350603	NM_198920.3(UBE3D):c.742T>G (p.Trp248Gly)	UBE3D (W248G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369346	NM_198920.3(UBE3D):c.739T>C (p.Ser247Pro)	UBE3D (S247P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330606	NM_198920.3(UBE3D):c.677A>G (p.Lys226Arg)	UBE3D (K39R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330605	NM_198920.3(UBE3D):c.658G>A (p.Val220Met)	LOC126859726, UBE3D (V33M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600712	NM_198920.3(UBE3D):c.631C>T (p.Arg211Cys)	LOC126859726, UBE3D (R211C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221815	NM_198920.3(UBE3D):c.587A>G (p.His196Arg)	UBE3D (H164R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618822	NM_198920.3(UBE3D):c.583A>C (p.Asn195His)	UBE3D (N163H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521402	NM_198920.3(UBE3D):c.566G>A (p.Cys189Tyr)	UBE3D (C189Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533429	NM_198920.3(UBE3D):c.447T>G (p.Phe149Leu)	UBE3D (F117L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185611	NM_198920.3(UBE3D):c.382C>T (p.Leu128Phe)	UBE3D (L96F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185610	NM_198920.3(UBE3D):c.362A>C (p.Asp121Ala)	UBE3D (D121A +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2261962	NM_198920.3(UBE3D):c.361G>A (p.Asp121Asn)	UBE3D (D89N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2302058	NM_198920.3(UBE3D):c.352A>C (p.Ile118Leu)	UBE3D (I86L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2527037	NM_198920.3(UBE3D):c.224T>C (p.Val75Ala)	UBE3D (V43A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2212466	NM_198920.3(UBE3D):c.206G>A (p.Arg69His)	UBE3D (R37H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558555	NM_198920.3(UBE3D):c.172C>T (p.Pro58Ser)	UBE3D (P26S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185609	NM_198920.3(UBE3D):c.169C>T (p.Leu57Phe)	UBE3D (L25F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304419	NM_198920.3(UBE3D):c.154T>G (p.Cys52Gly)	UBE3D (C20G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330608	NM_198920.3(UBE3D):c.98T>C (p.Met33Thr)	UBE3D (M33T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2622946	NM_198920.3(UBE3D):c.94G>A (p.Gly32Ser)	UBE3D (G32S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2523386	NM_198920.3(UBE3D):c.86A>G (p.Lys29Arg)	UBE3D (K29R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3185613	NM_198920.3(UBE3D):c.83C>T (p.Pro28Leu)	UBE3D (P28L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2243818	NM_198920.3(UBE3D):c.50A>G (p.Gln17Arg)	UBE3D (Q17R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3185612	NM_198920.3(UBE3D):c.46G>A (p.Gly16Arg)	UBE3D (G16R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3330607	NM_198920.3(UBE3D):c.11C>A (p.Ser4Tyr)	UBE3D (S4Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808487	GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3	DOP1A, IBTK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 814840	GRCh37/hg19 6q14.1(chr6:83252665-83667926)x3	UBE3D	Copy number gain	not provided	GUncertain significance
Select item 814839	GRCh37/hg19 6q14.1-14.2(chr6:82620262-84201117)x1	UBE3D, DOP1A +5 more	Copy number loss	not provided	GUncertain significance
Select item 685209	GRCh37/hg19 6q14.1-14.2(chr6:82987696-84007694)x1	DOP1A, ME1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253817	GRCh37/hg19 6q14.1-14.2(chr6:83753213-84004063)x3	ME1, DOP1A +3 more	Copy number gain	See cases	GUncertain significance
Select item 224831	Single allele	SNAP91, PGM3 +6 more	Deletion	Immunodeficiency 23	GPathogenic

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Items: 54