ClinVar for Gene (Select 9690) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362693	NM_014671.3(UBE3C):c.1274T>C (p.Met425Thr)	UBE3C (M425T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities	GUncertain significance
Select item 3330603	NM_014671.3(UBE3C):c.2204A>G (p.Asp735Gly)	UBE3C (D735G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330602	NM_014671.3(UBE3C):c.2111G>A (p.Arg704Lys)	UBE3C (R704K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330601	NM_014671.3(UBE3C):c.1292C>T (p.Thr431Met)	UBE3C (T431M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330600	NM_014671.3(UBE3C):c.1544A>G (p.His515Arg)	UBE3C (H515R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330599	NM_014671.3(UBE3C):c.1820A>G (p.Asn607Ser)	UBE3C (N607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257377	NM_014671.3(UBE3C):c.1812T>C (p.Val604=)	UBE3C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3245892	NC_000007.13:g.(?_156798214)_(157202715_?)dup	DNAJB6, MNX1 +1 more	Duplication	not provided	GUncertain significance
Select item 3185608	NM_014671.3(UBE3C):c.857C>T (p.Ala286Val)	UBE3C (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185606	NM_014671.3(UBE3C):c.527C>T (p.Ser176Leu)	UBE3C (S176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185605	NM_014671.3(UBE3C):c.313T>C (p.Tyr105His)	UBE3C (Y105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185604	NM_014671.3(UBE3C):c.2345A>G (p.Lys782Arg)	UBE3C (K782R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185603	NM_014671.3(UBE3C):c.1537T>G (p.Ser513Ala)	UBE3C (S513A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185602	NM_014671.3(UBE3C):c.148A>G (p.Ile50Val)	UBE3C (I50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185601	NM_014671.3(UBE3C):c.1459C>T (p.Pro487Ser)	UBE3C (P487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185600	NM_014671.3(UBE3C):c.1312A>G (p.Met438Val)	UBE3C (M438V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185599	NM_014671.3(UBE3C):c.1009G>A (p.Gly337Arg)	UBE3C (G337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
Select item 3059343	NM_014671.3(UBE3C):c.1503T>C (p.Tyr501=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GBenign
Select item 3057827	NM_014671.3(UBE3C):c.2265C>T (p.His755=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GLikely benign
Select item 3056835	NM_014671.3(UBE3C):c.759G>A (p.Pro253=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GBenign
Select item 3052800	NM_014671.3(UBE3C):c.2754G>A (p.Ala918=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GLikely benign
Select item 3051489	NM_014671.3(UBE3C):c.2801A>C (p.Gln934Pro)	UBE3C (Q934P)	Single nucleotide variant (missense variant)	UBE3C-related disorder	GLikely benign
Select item 3051093	NM_014671.3(UBE3C):c.2230A>G (p.Asn744Asp)	UBE3C (N744D)	Single nucleotide variant (missense variant)	UBE3C-related disorder	GUncertain significance
Select item 3050746	NM_014671.3(UBE3C):c.528G>C (p.Ser176=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GLikely benign
Select item 3043379	NM_014671.3(UBE3C):c.459-8T>C	UBE3C	Single nucleotide variant (intron variant)	UBE3C-related disorder	GBenign
Select item 3042229	NM_014671.3(UBE3C):c.1143+9C>T	UBE3C	Single nucleotide variant (intron variant)	UBE3C-related disorder	GLikely benign
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2614505	NM_014671.3(UBE3C):c.689G>A (p.Arg230Gln)	UBE3C (R230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606585	NM_014671.3(UBE3C):c.3005G>A (p.Gly1002Glu)	UBE3C (G1002E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587968	NM_014671.3(UBE3C):c.394T>A (p.Leu132Met)	UBE3C (L132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569599	NM_014671.3(UBE3C):c.1946A>G (p.His649Arg)	UBE3C (H649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531261	NM_014671.3(UBE3C):c.1340A>G (p.Tyr447Cys)	UBE3C (Y447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520290	NM_014671.3(UBE3C):c.202A>G (p.Ile68Val)	UBE3C (I68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487688	NM_014671.3(UBE3C):c.2257C>T (p.Arg753Cys)	UBE3C (R753C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479695	NM_014671.3(UBE3C):c.473G>A (p.Cys158Tyr)	UBE3C (C158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460848	NM_014671.3(UBE3C):c.349C>G (p.Leu117Val)	UBE3C (L117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455186	NM_014671.3(UBE3C):c.373A>G (p.Ser125Gly)	UBE3C (S125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	INSIG1, LMBR1 +13 more	Deletion	not provided	GPathogenic
Select item 2404806	NM_014671.3(UBE3C):c.1595C>T (p.Ser532Leu)	UBE3C (S532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404404	NM_014671.3(UBE3C):c.1966A>C (p.Met656Leu)	UBE3C (M656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365222	NM_014671.3(UBE3C):c.922T>G (p.Cys308Gly)	UBE3C (C308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355558	NM_014671.3(UBE3C):c.2797C>T (p.Arg933Cys)	UBE3C (R933C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344422	NM_014671.3(UBE3C):c.2977A>G (p.Ile993Val)	UBE3C (I993V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322641	NM_014671.3(UBE3C):c.2383A>G (p.Thr795Ala)	UBE3C (T795A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316790	NM_014671.3(UBE3C):c.1183T>A (p.Cys395Ser)	UBE3C (C395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308854	NM_014671.3(UBE3C):c.1541T>C (p.Ile514Thr)	UBE3C (I514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304512	NM_014671.3(UBE3C):c.1565A>G (p.Asp522Gly)	UBE3C (D522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298808	NM_014671.3(UBE3C):c.1639C>G (p.Arg547Gly)	UBE3C (R547G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293284	NM_014671.3(UBE3C):c.3187G>A (p.Glu1063Lys)	UBE3C (E1063K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283714	NM_014671.3(UBE3C):c.1600A>G (p.Met534Val)	UBE3C (M534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274672	NM_014671.3(UBE3C):c.432A>G (p.Ile144Met)	UBE3C (I144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274671	NM_014671.3(UBE3C):c.262A>G (p.Ile88Val)	UBE3C (I88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273215	NM_014671.3(UBE3C):c.2690C>T (p.Ala897Val)	UBE3C (A897V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259658	NM_014671.3(UBE3C):c.1963C>T (p.Arg655Trp)	UBE3C (R655W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255729	NM_014671.3(UBE3C):c.2417C>T (p.Ala806Val)	UBE3C (A806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239994	NM_014671.3(UBE3C):c.1406G>A (p.Arg469Gln)	UBE3C (R469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207585	NM_014671.3(UBE3C):c.3025C>T (p.Arg1009Cys)	UBE3C (R1009C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206723	NM_014671.3(UBE3C):c.2171A>T (p.Asn724Ile)	UBE3C (N724I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205973	NM_014671.3(UBE3C):c.1146G>C (p.Glu382Asp)	UBE3C (E382D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205728	NM_014671.3(UBE3C):c.1423A>G (p.Met475Val)	UBE3C (M475V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879837	NM_014671.3(UBE3C):c.1999del (p.Asp667fs)	UBE3C (D667fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1705937	GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1	RBM33, DNAJB6 +7 more	Copy number loss	Microcephaly	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1436808	NC_000007.13:g.(?_155595594)_(157208792_?)dup	DNAJB6, LMBR1 +5 more	Duplication	Holoprosencephaly 3	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 983166	GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1	UBE3C, ESYT2 +16 more	Copy number loss	See cases	GPathogenic
Select item 980290	GRCh37/hg19 7q36.3(chr7:155319280-159119707)x1	DNAJB6, LMBR1 +12 more	Copy number loss	not provided	GPathogenic
Select item 973043	GRCh37/hg19 7q36.3(chr7:156886376-159119707)x1	DNAJB6, DYNC2I1 +5 more	Copy number loss	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 688371	GRCh37/hg19 7q36.3(chr7:157060274-157166765)x3	DNAJB6, UBE3C	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686940	GRCh37/hg19 7q36.3(chr7:156629234-159119707)x1	DNAJB6, DYNC2I1 +8 more	Copy number loss	not provided	GPathogenic
Select item 686356	GRCh37/hg19 7q36.3(chr7:156879808-157222010)x3	DNAJB6, UBE3C	Copy number gain	not provided	GUncertain significance
Select item 685168	GRCh37/hg19 7q36.3(chr7:156855443-157197882)x3	DNAJB6, UBE3C	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 563418	GRCh37/hg19 7q36.2-36.3(chr7:153958355-159119707)x1	INSIG1, ESYT2 +16 more	Copy number loss	not provided	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 443710	GRCh37/hg19 7q36.3(chr7:156320289-159119707)x3	DNAJB6, DYNC2I1 +9 more	Copy number gain	See cases	GPathogenic
Select item 443709	GRCh37/hg19 7q36.2-36.3(chr7:154963758-157582526)x3	CNPY1, DNAJB6 +10 more	Copy number gain	See cases	GLikely pathogenic
Select item 443708	GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1	ACTR3B, CNPY1 +23 more	Copy number loss	See cases	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic

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