22211[HGNC] - 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 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 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 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 58373	GRCh38/hg38 7q36.3(chr7:157271429-159282390)x3	DNAJB6, DYNC2I1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 149053	GRCh38/hg38 7q36.3(chr7:157879987-158752871)x3	ESYT2, LINC01022 +23 more	Copy number gain	See cases	GLikely benign
Select item 147687	GRCh38/hg38 7q36.3(chr7:157898696-159295947)x3	DYNC2I1, ESYT2 +46 more	Copy number gain	See cases	GPathogenic
Select item 57308	GRCh38/hg38 7q36.3(chr7:158154429-159135526)x1	LOC129999754, LOC129999755 +35 more	Copy number loss	See cases	GPathogenic
Select item 58375	GRCh38/hg38 7q36.3(chr7:158297823-159034606)x3	DYNC2I1, ESYT2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60327	GRCh38/hg38 7q36.3(chr7:158568512-159281301)x1	DYNC2I1, ESYT2 +32 more	Copy number loss	See cases	GPathogenic
Select item 545345	Single allele	DYNC2I1, ESYT2 +24 more	Duplication	Autism	GLikely pathogenic
Select item 144299	GRCh38/hg38 7q36.3(chr7:158671461-159127509)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GBenign
Select item 58376	GRCh38/hg38 7q36.3(chr7:158703702-159117047)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 545346	Single allele	DYNC2I1, ESYT2 +21 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3090664	NM_001367773.1(ESYT2):c.2530G>A (p.Glu844Lys)	ESYT2, LOC126860261 (E844K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294464	NM_001367773.1(ESYT2):c.2473T>C (p.Phe825Leu)	ESYT2 (F804L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285943	NM_001367773.1(ESYT2):c.2470G>A (p.Gly824Ser)	ESYT2 (G803S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090662	NM_001367773.1(ESYT2):c.2449G>A (p.Val817Ile)	ESYT2 (V796I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090661	NM_001367773.1(ESYT2):c.2446G>T (p.Asp816Tyr)	ESYT2 (D816Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380264	NM_001367773.1(ESYT2):c.2441C>T (p.Thr814Met)	ESYT2 (T793M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090660	NM_001367773.1(ESYT2):c.2417C>T (p.Ser806Leu)	ESYT2 (S785L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355571	NM_001367773.1(ESYT2):c.2306A>G (p.Tyr769Cys)	ESYT2 (Y748C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276551	NM_001367773.1(ESYT2):c.2131A>T (p.Thr711Ser)	ESYT2 (T690S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305255	NM_001367773.1(ESYT2):c.2125A>G (p.Ile709Val)	ESYT2 (I709V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535331	NM_001367773.1(ESYT2):c.2117C>T (p.Ser706Leu)	ESYT2 (S685L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090659	NM_001367773.1(ESYT2):c.2087A>G (p.Glu696Gly)	ESYT2 (E696G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483436	NM_001367773.1(ESYT2):c.2063C>T (p.Ser688Phe)	ESYT2 (S688F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555251	NM_001367773.1(ESYT2):c.2024T>A (p.Leu675Gln)	ESYT2 (L654Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276545	NM_001367773.1(ESYT2):c.1999C>T (p.Pro667Ser)	ESYT2 (P646S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383927	NM_001367773.1(ESYT2):c.1958T>C (p.Ile653Thr)	ESYT2 (I653T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3090658	NM_001367773.1(ESYT2):c.1945T>G (p.Ser649Ala)	ESYT2 (S628A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090657	NM_001367773.1(ESYT2):c.1913C>A (p.Ser638Tyr)	ESYT2 (S638Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276549	NM_001367773.1(ESYT2):c.1904T>G (p.Met635Arg)	ESYT2 (M614R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276547	NM_001367773.1(ESYT2):c.1814G>A (p.Arg605Gln)	ESYT2 (R584Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276553	NM_001367773.1(ESYT2):c.1796T>C (p.Val599Ala)	ESYT2 (V599A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090654	NM_001367773.1(ESYT2):c.1754C>T (p.Ser585Leu)	ESYT2 (S585L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090653	NM_001367773.1(ESYT2):c.1740C>G (p.Phe580Leu)	ESYT2 (F559L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374576	NM_001367773.1(ESYT2):c.1691C>G (p.Pro564Arg)	ESYT2 (P564R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478679	NM_001367773.1(ESYT2):c.1670C>G (p.Ser557Cys)	ESYT2 (S536C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490330	NM_001367773.1(ESYT2):c.1562G>A (p.Arg521Gln)	ESYT2 (R500Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090650	NM_001367773.1(ESYT2):c.1507C>G (p.Pro503Ala)	ESYT2 (P482A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090649	NM_001367773.1(ESYT2):c.1366G>A (p.Gly456Ser)	ESYT2 (G456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276552	NM_001367773.1(ESYT2):c.1318G>T (p.Asp440Tyr)	ESYT2 (D440Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276548	NM_001367773.1(ESYT2):c.1279C>G (p.Leu427Val)	ESYT2 (L427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090648	NM_001367773.1(ESYT2):c.1190T>C (p.Met397Thr)	ESYT2 (M397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238036	NM_001367773.1(ESYT2):c.1136A>T (p.Glu379Val)	ESYT2 (E379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090647	NM_001367773.1(ESYT2):c.1126C>A (p.Gln376Lys)	ESYT2 (Q376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372070	NM_001367773.1(ESYT2):c.1016A>G (p.Tyr339Cys)	ESYT2 (Y339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090646	NM_001367773.1(ESYT2):c.937A>T (p.Ile313Leu)	ESYT2 (I313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276550	NM_001367773.1(ESYT2):c.910T>C (p.Phe304Leu)	ESYT2 (F304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266882	NM_001367773.1(ESYT2):c.850G>C (p.Val284Leu)	ESYT2 (V284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233294	NM_001367773.1(ESYT2):c.841A>G (p.Asn281Asp)	ESYT2 (N281D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658284	NM_001367773.1(ESYT2):c.747+5618_747+5619insA	ESYT2	Insertion (intron variant)	not provided	GLikely benign
Select item 2393633	NM_001367773.1(ESYT2):c.589G>A (p.Val197Ile)	ESYT2 (V197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155486	GRCh38/hg38 7q36.3(chr7:158795289-159327017)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GLikely benign
Select item 3090669	NM_001367773.1(ESYT2):c.496G>A (p.Val166Met)	ESYT2 (V166M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382131	NM_001367773.1(ESYT2):c.475T>G (p.Phe159Val)	ESYT2 (F159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283679	NM_001367773.1(ESYT2):c.448C>T (p.Arg150Trp)	ESYT2 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362403	NM_001367773.1(ESYT2):c.445G>C (p.Val149Leu)	ESYT2 (V149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090668	NM_001367773.1(ESYT2):c.341C>T (p.Pro114Leu)	ESYT2 (P114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500764	NC_000007.14:g.158815519_159037266dup	DYNC2I1, ESYT2 +15 more	Duplication	not specified	GUncertain significance
Select item 3090667	NM_001367773.1(ESYT2):c.301G>T (p.Gly101Trp)	ESYT2 (G101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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