ClinVar for Gene (Select 57488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3276552	NM_001367773.1(ESYT2):c.1318G>T (p.Asp440Tyr)	ESYT2 (D440Y)	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 3276550	NM_001367773.1(ESYT2):c.910T>C (p.Phe304Leu)	ESYT2 (F304L)	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 3276548	NM_001367773.1(ESYT2):c.1279C>G (p.Leu427Val)	ESYT2 (L427V)	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 3276546	NM_001367773.1(ESYT2):c.178T>G (p.Phe60Val)	ESYT2 (F60V)	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 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
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 3090668	NM_001367773.1(ESYT2):c.341C>T (p.Pro114Leu)	ESYT2 (P114L)	Single nucleotide variant (missense variant)	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
Select item 3090666	NM_001367773.1(ESYT2):c.247C>T (p.Arg83Cys)	ESYT2, LOC129999762 (R83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090665	NM_001367773.1(ESYT2):c.238A>G (p.Lys80Glu)	ESYT2, LOC129999762 (K80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 3090656	NM_001367773.1(ESYT2):c.52G>A (p.Gly18Ser)	ESYT2, LOC129999763 (G18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090655	NM_001367773.1(ESYT2):c.46G>T (p.Ala16Ser)	ESYT2, LOC129999763 (A16S)	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 3090651	NM_001367773.1(ESYT2):c.16G>A (p.Gly6Ser)	ESYT2, LOC129999763 (G6S)	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 3090648	NM_001367773.1(ESYT2):c.1190T>C (p.Met397Thr)	ESYT2 (M397T)	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 3090646	NM_001367773.1(ESYT2):c.937A>T (p.Ile313Leu)	ESYT2 (I313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2685044	GRCh37/hg19 7q36.3(chr7:158546177-158953160)x4	DYNC2I1, ESYT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684513	GRCh37/hg19 7q36.3(chr7:158416815-158727591)x3	DYNC2I1, ESYT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684512	GRCh37/hg19 7q36.3(chr7:158393514-159041880)x3	DYNC2I1, ESYT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684511	GRCh37/hg19 7q36.3(chr7:158304929-159073358)x3	DYNC2I1, ESYT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2658284	NM_001367773.1(ESYT2):c.747+5618_747+5619insA	ESYT2	Insertion (intron variant)	not provided	GLikely benign
Select item 2616279	NM_001367773.1(ESYT2):c.-90G>C	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR 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 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 2542670	NM_020728.2(ESYT2):c.26C>A (p.Ala9Glu)	ESYT2, LOC129999763 (A9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542669	NM_020728.2(ESYT2):c.25G>A (p.Ala9Thr)	ESYT2, LOC129999763 (A9T)	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 2515893	NM_001367773.1(ESYT2):c.-84C>T	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR 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 2492399	NM_001367773.1(ESYT2):c.177C>A (p.Ser59Arg)	ESYT2 (S59R)	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 2486159	NM_001367773.1(ESYT2):c.196G>C (p.Ala66Pro)	ESYT2, LOC129999762 (A66P)	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 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 2459787	NM_001367773.1(ESYT2):c.14G>A (p.Arg5Gln)	ESYT2, LOC129999763 (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2383927	NM_001367773.1(ESYT2):c.1958T>C (p.Ile653Thr)	ESYT2 (I653T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 2372070	NM_001367773.1(ESYT2):c.1016A>G (p.Tyr339Cys)	ESYT2 (Y339C)	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 2355708	NM_001367773.1(ESYT2):c.-55C>G	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR 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 2347637	NM_020728.2(ESYT2):c.46G>A (p.Val16Ile)	ESYT2, LOC129999763 (V16I)	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 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 2283679	NM_001367773.1(ESYT2):c.448C>T (p.Arg150Trp)	ESYT2 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273423	NM_001367773.1(ESYT2):c.-87G>C	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR 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 2238036	NM_001367773.1(ESYT2):c.1136A>T (p.Glu379Val)	ESYT2 (E379V)	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 2212401	NM_001367773.1(ESYT2):c.212C>G (p.Ala71Gly)	ESYT2, LOC129999762 (A71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809157	GRCh37/hg19 7q36.3(chr7:158311347-158531086)x3	ESYT2, NCAPG2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808964	GRCh37/hg19 7q36.3(chr7:158587981-159119707)x3	DYNC2I1, ESYT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808858	GRCh37/hg19 7q36.3(chr7:158385219-158727591)x3	DYNC2I1, ESYT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808524	GRCh37/hg19 7q36.3(chr7:158444634-158848036)x3	DYNC2I1, ESYT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808003	GRCh37/hg19 7q36.3(chr7:158449486-158923491)x4	DYNC2I1, ESYT2 +2 more	Copy number gain	not provided	GUncertain significance
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 1527417	GRCh37/hg19 7q36.3(chr7:158311346-158945929)	DYNC2I1, ESYT2 +3 more	Copy number gain	not specified	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 1340838	GRCh37/hg19 7q36.3(chr7:158397361-158630131)x1	ESYT2, NCAPG2	Copy number loss	not provided	GUncertain significance
Select item 1340421	GRCh37/hg19 7q36.3(chr7:158392721-159119707)x1	DYNC2I1, ESYT2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1340382	GRCh37/hg19 7q36.3(chr7:158353383-158706227)x3	DYNC2I1, ESYT2 +2 more	Copy number gain	not provided	GUncertain significance
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 980293	GRCh37/hg19 7q36.3(chr7:158587980-159119707)x3	VIPR2, DYNC2I1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980292	GRCh37/hg19 7q36.3(chr7:158202236-158626229)x3	ESYT2, PTPRN2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980291	GRCh37/hg19 7q36.3(chr7:158116362-159119707)x4	VIPR2, DYNC2I1 +3 more	Copy number gain	not provided	GUncertain significance
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 929395	GRCh37/hg19 7q36.3(chr7:158279412-158828069)x3	DYNC2I1, ESYT2 +3 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

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