9690[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
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 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146785	GRCh38/hg38 7q36.3(chr7:157028893-159335865)x1	LINC01022, DNAJB6 +79 more	Copy number loss	See cases	GPathogenic
Select item 149686	GRCh38/hg38 7q36.3(chr7:157153628-159335866)x1	DNAJB6, DYNC2I1 +75 more	Copy number loss	See cases	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 2520290	NM_014671.3(UBE3C):c.202A>G (p.Ile68Val)	UBE3C (I68V)	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 3185605	NM_014671.3(UBE3C):c.313T>C (p.Tyr105His)	UBE3C (Y105H)	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 2587968	NM_014671.3(UBE3C):c.394T>A (p.Leu132Met)	UBE3C (L132M)	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 3043379	NM_014671.3(UBE3C):c.459-8T>C	UBE3C	Single nucleotide variant (intron variant)	UBE3C-related disorder	GBenign
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 3185606	NM_014671.3(UBE3C):c.527C>T (p.Ser176Leu)	UBE3C (S176L)	Single nucleotide variant (missense variant)	not specified	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 2614505	NM_014671.3(UBE3C):c.689G>A (p.Arg230Gln)	UBE3C (R230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056835	NM_014671.3(UBE3C):c.759G>A (p.Pro253=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GBenign
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 2365222	NM_014671.3(UBE3C):c.922T>G (p.Cys308Gly)	UBE3C (C308G)	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 3042229	NM_014671.3(UBE3C):c.1143+9C>T	UBE3C	Single nucleotide variant (intron variant)	UBE3C-related disorder	GLikely benign
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 2316790	NM_014671.3(UBE3C):c.1183T>A (p.Cys395Ser)	UBE3C (C395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3330601	NM_014671.3(UBE3C):c.1292C>T (p.Thr431Met)	UBE3C (T431M)	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 2531261	NM_014671.3(UBE3C):c.1340A>G (p.Tyr447Cys)	UBE3C (Y447C)	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 2205728	NM_014671.3(UBE3C):c.1423A>G (p.Met475Val)	UBE3C (M475V)	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 3059343	NM_014671.3(UBE3C):c.1503T>C (p.Tyr501=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GBenign
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 2308854	NM_014671.3(UBE3C):c.1541T>C (p.Ile514Thr)	UBE3C (I514T)	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 2304512	NM_014671.3(UBE3C):c.1565A>G (p.Asp522Gly)	UBE3C (D522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2283714	NM_014671.3(UBE3C):c.1600A>G (p.Met534Val)	UBE3C (M534V)	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 3257377	NM_014671.3(UBE3C):c.1812T>C (p.Val604=)	UBE3C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2569599	NM_014671.3(UBE3C):c.1946A>G (p.His649Arg)	UBE3C (H649R)	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 2404404	NM_014671.3(UBE3C):c.1966A>C (p.Met656Leu)	UBE3C (M656L)	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 3330602	NM_014671.3(UBE3C):c.2111G>A (p.Arg704Lys)	UBE3C (R704K)	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 3330603	NM_014671.3(UBE3C):c.2204A>G (p.Asp735Gly)	UBE3C (D735G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2487688	NM_014671.3(UBE3C):c.2257C>T (p.Arg753Cys)	UBE3C (R753C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185604	NM_014671.3(UBE3C):c.2345A>G (p.Lys782Arg)	UBE3C (K782R)	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 2255729	NM_014671.3(UBE3C):c.2417C>T (p.Ala806Val)	UBE3C (A806V)	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 3052800	NM_014671.3(UBE3C):c.2754G>A (p.Ala918=)	UBE3C	Single nucleotide variant (synonymous variant)	UBE3C-related disorder	GLikely benign
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 3051489	NM_014671.3(UBE3C):c.2801A>C (p.Gln934Pro)	UBE3C (Q934P)	Single nucleotide variant (missense variant)	UBE3C-related disorder	GLikely benign
Select item 2344422	NM_014671.3(UBE3C):c.2977A>G (p.Ile993Val)	UBE3C (I993V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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