ClinVar for Gene (Select 63941) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299131	NM_031232.4(NECAB3):c.446C>T (p.Thr149Met)	NECAB3 (T149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299130	NM_031232.4(NECAB3):c.558G>C (p.Arg186Ser)	NECAB3 (R186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263794	NM_001024675.2(ACTL10):c.224A>G (p.Lys75Arg)	ACTL10, LOC130065688 +1 more (K75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263784	NM_001024675.2(ACTL10):c.610G>C (p.Gly204Arg)	ACTL10, NECAB3 (G204R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263773	NM_001024675.2(ACTL10):c.233C>T (p.Thr78Ile)	ACTL10, LOC130065688 +1 more (T78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263764	NM_001024675.2(ACTL10):c.626T>G (p.Val209Gly)	ACTL10, NECAB3 (V209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3190285	NM_031232.4(NECAB3):c.795G>C (p.Trp265Cys)	NECAB3 (W265C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190275	NM_031232.4(NECAB3):c.703A>G (p.Ile235Val)	NECAB3 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190268	NM_031232.4(NECAB3):c.625C>T (p.Pro209Ser)	NECAB3 (P209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190257	NM_031232.4(NECAB3):c.574C>T (p.Arg192Trp)	NECAB3 (R192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190250	NM_031232.4(NECAB3):c.523C>T (p.Arg175Trp)	NECAB3 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190245	NM_031232.4(NECAB3):c.425C>T (p.Thr142Met)	NECAB3 (T142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190240	NM_031232.4(NECAB3):c.166C>T (p.Leu56Phe)	NECAB3 (L56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190237	NM_031232.4(NECAB3):c.1130C>T (p.Ala377Val)	NECAB3 (A377V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190234	NM_031232.4(NECAB3):c.1126C>T (p.Arg376Trp)	NECAB3 (R342W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141335	NM_001024675.2(ACTL10):c.686G>C (p.Arg229Pro)	ACTL10, NECAB3 (R229P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141328	NM_001024675.2(ACTL10):c.5C>G (p.Ala2Gly)	ACTL10, NECAB3 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141319	NM_001024675.2(ACTL10):c.526G>C (p.Ala176Pro)	ACTL10, NECAB3 (A176P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141312	NM_001024675.2(ACTL10):c.488T>C (p.Val163Ala)	ACTL10, NECAB3 (V163A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141302	NM_001024675.2(ACTL10):c.411G>C (p.Glu137Asp)	ACTL10, NECAB3 (E137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141293	NM_001024675.2(ACTL10):c.190A>C (p.Asn64His)	ACTL10, LOC130065688 +1 more (N64H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614149	NM_031232.4(NECAB3):c.589G>A (p.Ala197Thr)	NECAB3 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600932	NM_001024675.2(ACTL10):c.424G>A (p.Ala142Thr)	ACTL10, NECAB3 (A142T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2525611	NM_001024675.2(ACTL10):c.185C>T (p.Ala62Val)	ACTL10, LOC130065688 +1 more (A62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521872	NM_031232.4(NECAB3):c.715G>A (p.Glu239Lys)	NECAB3 (E239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517484	NM_031232.4(NECAB3):c.773C>T (p.Pro258Leu)	NECAB3 (P258L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2495545	NM_031232.4(NECAB3):c.89C>T (p.Ala30Val)	NECAB3 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495534	NM_001024675.2(ACTL10):c.45C>G (p.Phe15Leu)	ACTL10, NECAB3 (F15L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489257	NM_001024675.2(ACTL10):c.499G>A (p.Gly167Ser)	ACTL10, NECAB3 (G167S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464660	NM_031232.4(NECAB3):c.61C>T (p.Pro21Ser)	NECAB3 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407927	NM_001024675.2(ACTL10):c.101C>A (p.Ala34Glu)	ACTL10, NECAB3 (A34E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392363	NM_080825.4(C20orf144):c.358C>G (p.Arg120Gly)	C20orf144, NECAB3 (R120G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380171	NM_031232.4(NECAB3):c.137G>A (p.Arg46His)	NECAB3 (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374701	NM_031232.4(NECAB3):c.586C>G (p.Arg196Gly)	NECAB3 (R196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363638	NM_001024675.2(ACTL10):c.631A>T (p.Thr211Ser)	ACTL10, NECAB3 (T211S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356516	NM_031232.4(NECAB3):c.565G>A (p.Gly189Ser)	NECAB3 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351312	NM_031232.4(NECAB3):c.949C>T (p.Arg317Cys)	NECAB3 (R317C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335322	NM_001024675.2(ACTL10):c.563G>A (p.Arg188Gln)	ACTL10, NECAB3 (R188Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332405	NM_031232.4(NECAB3):c.583C>T (p.Arg195Cys)	NECAB3 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290080	NM_001024675.2(ACTL10):c.158C>G (p.Ser53Trp)	ACTL10, NECAB3 (S53W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258224	NM_080825.4(C20orf144):c.439C>G (p.Arg147Gly)	C20orf144, NECAB3 (R147G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248796	NM_001024675.2(ACTL10):c.319A>G (p.Ser107Gly)	ACTL10, NECAB3 (S107G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246866	NM_031232.4(NECAB3):c.621G>T (p.Trp207Cys)	NECAB3 (W207C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241747	NM_080825.4(C20orf144):c.91T>C (p.Ser31Pro)	C20orf144, NECAB3 (S31P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2230034	NM_080825.4(C20orf144):c.352T>G (p.Trp118Gly)	C20orf144, NECAB3 (W118G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217069	NM_031232.4(NECAB3):c.673C>T (p.Arg225Trp)	NECAB3 (R225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 816125	GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3	PIGU, E2F1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 584348	NC_000020.10:g.(?_31996293)_(33338342_?)del	CBFA2T2, CHMP4B +17 more	Deletion	Long QT syndrome	GUncertain significance
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 63