EN2[gene] - 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 2269008	NM_001427.4(EN2):c.16C>A (p.Pro6Thr)	EN2 (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088810	NM_001427.4(EN2):c.79G>C (p.Gly27Arg)	EN2 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275393	NM_001427.4(EN2):c.89G>A (p.Gly30Asp)	EN2 (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613072	NM_001427.4(EN2):c.119C>G (p.Ala40Gly)	EN2 (A40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275394	NM_001427.4(EN2):c.127G>C (p.Gly43Arg)	EN2 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088801	NM_001427.4(EN2):c.133C>T (p.Arg45Trp)	EN2 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088802	NM_001427.4(EN2):c.172G>A (p.Gly58Ser)	EN2 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275040	NM_001427.4(EN2):c.203A>G (p.Asn68Ser)	EN2 (N68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755379	NM_001427.4(EN2):c.231C>G (p.Pro77=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088803	NM_001427.4(EN2):c.269C>G (p.Ala90Gly)	EN2 (A90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393945	NM_001427.4(EN2):c.281G>A (p.Gly94Glu)	EN2 (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272004	NM_001427.4(EN2):c.323G>C (p.Gly108Ala)	EN2 (G108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275390	NM_001427.4(EN2):c.326C>T (p.Ala109Val)	EN2 (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246891	NM_001427.4(EN2):c.340G>A (p.Gly114Ser)	EN2 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088804	NM_001427.4(EN2):c.367G>C (p.Gly123Arg)	EN2 (G123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275388	NM_001427.4(EN2):c.377C>T (p.Ser126Phe)	EN2 (S126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088805	NM_001427.4(EN2):c.388C>G (p.Arg130Gly)	EN2 (R130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275389	NM_001427.4(EN2):c.397C>A (p.Pro133Thr)	EN2 (P133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318657	NM_001427.4(EN2):c.419G>A (p.Gly140Asp)	EN2 (G140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088806	NM_001427.4(EN2):c.425C>T (p.Pro142Leu)	EN2 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401306	NM_001427.4(EN2):c.440G>T (p.Gly147Val)	EN2 (G147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275391	NM_001427.4(EN2):c.493G>C (p.Gly165Arg)	EN2 (G165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520881	NM_001427.4(EN2):c.499G>T (p.Ala167Ser)	EN2 (A167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088807	NM_001427.4(EN2):c.535G>C (p.Gly179Arg)	EN2 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593777	NM_001427.4(EN2):c.547G>A (p.Ala183Thr)	EN2 (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243714	NM_001427.4(EN2):c.562G>T (p.Gly188Cys)	EN2 (G188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363254	NM_001427.4(EN2):c.581G>C (p.Ser194Thr)	EN2 (S194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711482	NM_001427.4(EN2):c.600G>C (p.Ser200=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088808	NM_001427.4(EN2):c.633G>A (p.Met211Ile)	EN2 (M211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16631	NM_001427.4(EN2):c.686-1073G>A	EN2	Single nucleotide variant (intron variant)	Autism, susceptibility to, 10	GUncertain significance
Select item 16632	NM_001427.4(EN2):c.686-921T>C	EN2	Single nucleotide variant (intron variant)	Autism, susceptibility to, 10	GUncertain significance
Select item 2320940	NM_001427.4(EN2):c.813G>T (p.Glu271Asp)	EN2 (E271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275392	NM_001427.4(EN2):c.814C>G (p.Gln272Glu)	EN2 (Q272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252791	NM_001427.4(EN2):c.889G>A (p.Ala297Thr)	EN2 (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1260669	NM_001427.4(EN2):c.952T>C (p.Leu318=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735324	NM_001427.4(EN2):c.960C>T (p.Asn320=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658276	NM_001427.4(EN2):c.996C>T (p.Ser332=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2684510	GRCh37/hg19 7q36.2-36.3(chr7:155055213-155326366)x3	CNPY1, EN2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2504594	GRCh37/hg19 7q36.2-36.3(chr7:154672988-155411249)x3	PAXIP1, RBM33 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	INSIG1, LMBR1 +13 more	Deletion	not provided	GPathogenic
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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1703527	GRCh37/hg19 7q36.2-36.3(chr7:154831466-156356088)	INSIG1, RBM33 +4 more	Copy number loss	Holoprosencephaly 3	GPathogenic
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 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 929391	GRCh37/hg19 7q36.2-36.3(chr7:154585431-155488931)x3	CNPY1, EN2 +4 more	Copy number gain	See cases	GUncertain significance
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

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